- G protein coupled receptors. Modeling, activation, interactions and virtual screening — Genetic basis of common diseases. 2nd ed. (166)
- Genetic cardiomyopathies : a clinical approach — Geriatric urology (166)
- Geriatrics models of care : bringing 'best practice' to an aging America — Goodman & Gilman's The Pharmacological basis of therapeutics. 12th ed. (166)
- Goodman & Gilman's The Pharmacological basis of therapeutics. 11th ed. — Gynecological imaging : a reference guide to diagnosis (163)
- 2013 SpringerCamerini, F.; Mestroni, Luisa; Sinagra, Gianfranco.
- Genetic control of embryo patterning in Xenopus laevis : description of the anterior inducer XGREUL1 and a genomic analysis of organizer function2006Hufton, Andrew L.
- 2007 SpringerMeyer, Gundela.
- 2006Levi, Boaz Pirie.
- 2010Bartels, Dianne M.; LeRoy, Bonnie; Veach, Patricia McCarthy.Complicated shadows : a critique of autonomy in genetic counseling / Robert G. Resta -- Actively engaging with patients in decision making / Andrea Zanko and Michelle Fox -- Risk communication : a complex process / Shannan DeLany Dixon and Yasmine L. Konheim-Kalkstein -- Grieving : an inevitable journey / Elizabeth Gettig -- Facing patient anger / Bonnie Jeanne Baty -- Resistance and adherence : understanding the patient's perspective / Jon Weil -- Countertransference : making the unconscious conscious / Jon Weil -- Honoring diversity : cultural competence in genetic counseling / Linwood J. Lewis -- Genetic counseling strategies for working with families / Deborah L. Eunpu -- Developmentally based approaches for counseling children and adolescents / Stephanie Austin -- Genetic counseling for women with intellectual disabilities / Brenda Finucane -- Genetic counselors : caring mindfully / June A. Peters -- Professional development : reflective genetic counseling practice / Kimberly W. Zahm -- Mobilizing genetic counselor leadership skills / Nancy P. Callanan.
- 2014 Oxford Medicine OnlineMacFarlane, Ian M.; LeRoy, Bonnie; Veach, Patricia McCarthy.Developing research questions -- Finding sources -- Writing a review of literature -- Ethics in research -- Choosing a paradigm -- Designing a quantitative study -- Quantitative data analysis : I've got data, how do I get answers? -- Conducting qualitative genetic counseling research -- Preparing a manuscript for publication -- Guidelines for directing research.
- 2014 SpringerBaldi, Elisabetta; Muratori, Monica.There are several types of damage that can be found in the male gamete. Genetic damage in spermatozoa can originate during spermatogenesis, or it can originate during transit in both male and female genital tracts. Damage can also be due to aging, environmental or iatrogenic conditions, as well as to the protocols to cryopreserve and to select spermatozoa in assisted reproduction techniques. This book provides a comprehensive resource for all possible DNA damages in sperm, the relation to fertility and infertility, and possible transgenerational heritable effects.Also available: Print – 2014
- 2008 SpringerLaunis, Veikko; Räikkä, Juha.Introduction : the scope and importance of genetic democracy / Veikko Launis -- The prerequisites for genetic democracy / Helena Siipi -- Ethical expertise in democratic societies / Eerik Lagerspetz -- Towards global bioethics : the UNESCO universal declaration on bioethics and human rights / Henk ten Have -- Autonomy and genetic privacy / Juha Räikkä -- Values, rights and GMO : against radicalism -- The precautionary principle and the risks of modern agri-biotechnology / Marko Ahteensuu -- Population databanks and democracy in light of the Icelandic experience / Vilhjálmur Árnason and Stefán Hjörleifsson -- Equality and community in public deliberation : genetic democracy in Taiwan / Terence Hua Tai and Wen-Tsong Chiou -- Genetic resources, genetic democracy and genetic equity / Keekok Lee -- Moral constraints on permissible genetic design / Thomas Pogge.
- 2010 ScienceDirect2010 ClinicalKeyRefetoff, Samuel; Weiss, Roy E.Mechanisms of mutation -- Pancreas - Genetic testing in diabetes mellitus: a clinical guide to monogenic diabetes -- Obesity -- Syndromes of severe insulin resistance and/or lipodystrophy -- Pituitary -- Functioning pituitary adenomas -- Diabetes insipidus -- States of pituitary hypofunction -- Thyroid -- Congenital defects of thyroid hormone synthesis -- Developmental abnormalities of the thyroid -- Syndromes of reduced sensitivity to thyroid hormone -- Molecular genetics of thyroid cancer: pathogenetic significance and clinical applications -- Parathyroid and bone -- Genetics of hyperparathyroidism including parathyroid cancer -- Genetic diagnosis of skeletal dysplasias -- Vitamin D disorders -- Adrenal -- Congenital adrenal hyperplasia -- Genetics of adrenocortical tumors (ACT) and hypersecretory syndromes -- Hereditary pheochromocytoma and multiple endocrine neoplasia type 2 (MEN2) -- Genetic conditions associated with congenital adrenocortical insufficiency or glucocorticoid and/or mineralocorticoid resistance -- Reproductive -- Genetic considerations in the evaluation of menstrual cycle irregularities -- Genetic diagnosis of hypogonadotropic hypogonadism and Kallmann syndrome -- Disorders of sex development -- Genetic defects of androgen resistance -- Multisystem disorders -- Multiple endocrine neoplasia type 1 (MEN1) -- Genetics of polyglandular failure -- Growth -- Genetic diagnosis of growth failure -- Counseling and laboratory -- Genetic counseling -- Setting up a laboratory.
- 2010 SpringerTeebi, Ahmad S.
- 2010Kumar, Dhavendra."The population of the Indian subcontinent consists of a fine amalgamation of people from diverse tribal, cultural, religious and social backgrounds. Mortality and morbidity from a vast number of medical and surgical conditions is significant and well above compared to the developed countries. Although a large component of the human health problem is related to infection, malnutrition and other preventable causes, a significant proportion is linked to hereditary factors reflecting in the form of chromosomal, single gene and complex medical diseases. Unusual and unique Mendelian disorders are not uncommon and a number of common medical conditions, such as ischemic heart disease and diabetes mellitus are relatively more prevalent among those living in the developing countries of the Indian subcontinent and as well as among the migrant population groups in the western world. However, true burden of the inherited disorders among the Asian Indians is not known, and probably underestimated. -- This text includes a detailed and concise account of the social and cultural diversity, medical demography, genetic epidemiology, consanguinity and common genetic disorders affecting people from the Indian subcontinent. In addition, specific issues of genetic services in various regions are addressed. This volume also provides a glossary for the benefit of non-genetic professionals and is aimed at a wide audience including physicians, genetic professionals, public health consultants, medical demographers, medica/social anthropologists and health administrators." -- [Publisher-supplied data]
- 2007/2008Hoopfer, Eric Dominguez.
- 2008Sternheim, Nitzan.
- 2008/2009Katsov, Alexander Y.
- 2008Rutter, Michael.Introduction : whither gene-environment interactions? ? Michael Rutter -- Gene-environment interaction : overcoming methodological challenges / Rudolf Uher -- Gene-environment interaction and behavioral disorders : a developmental perspective based on endophenotypes / Marco Battaglia, Cecilia Marino, Michel Maziade, Massimo Molteni and Francesca D'Amato -- Use of monozygotic twins to investigate the relationship between 5HTTLPR genotype, depression and stressful life events : an application of item response theory / Naomi R. Wray, William L. Coventry, Michael R. James, Grant W. Montgomery, Lindon J. Eaves and Nicholas G. Martin -- Role of gene-stress interactions in gene finding studies / Harold Snieder, Xiaoling Wang, Vasiliki Lagou, Brenda W. J. H. Penninx, Harriëtte Riese and Catharina A. Hartman -- Practice and public policy in the era of gene-environment interactions / Kenneth A. Dodge -- Gene-environment interaction and the metabolic syndrome / Kristi B. Adamo and Frédérique Tesson -- Longitudinal studies of gene-environment interaction in common diseases - good value for money? / Stephen P. Robertson and Richie Poulton -- Gene-environment interactions in breast cancer / Kee-Seng Chia -- Unbiased forward genetics and systems biology approaches to understanding how gene-environment interactions work to predict susceptibility and outcomes of infections / Malak Kotb, Nourtan Fathey, Ramy Aziz, Sarah Rowe, Robert W. Williams and Lu Lu -- Gene-environment interactions in environmental lung diseases / Steven R. Kleeberger and Hye-Youn Cho -- Gene-environment interaction in complex diseases : asthma as an illustrative case / Fernando D. Martinez -- Conclusions : taking stock and looking ahead / Michael Rutter.
- v. 27-28, 2006-2007. Springerv. 28, 2007 SpringerHollaender, Alexander; Setlow, Jane K.Also available: Print – v. 1-28, 1979-2007.
- 2006 SpringerNolta, Jan A.Also available: Print – 2006
- 2009 Springer ProtocolsTeare, M. Dawn.Molecular Genetics and Genetic Variation / Mohammed-Elfatih Twfieg, M. Dawn Teare -- Terminology, Concepts, and Models in Genetic Epidemiology / M. Dawn Teare, Mauro F. Koref -- An Introduction to Epidemiology / Cother Hajat -- Genetic Distance and Markers Used in Linkage Mapping / Kristina Allen-Brady, Nicola J. Camp -- Approaches to Genetic Linkage Analysis / M. Dawn Teare -- Fine-Scale Structure of the Genome and Markers Used in Association Mapping / Karen Curtin, Nicola J. Camp -- Genome-Wide Association Studies / Mark M. Iles -- Candidate Gene Association Studies / M. Dawn Teare -- Family-Based Association Studies / Frank Dudbridge -- Genome Variation: A Review of Web Resources / Andrew Collins, William J. Tapper -- Advanced Methods in Twin Studies / Jaakko Kaprio, Karri Silventoinen -- Mendelian Randomisation: A Tool for Assessing Causality in Observational Epidemiology / Nuala A. Sheehan, Sha Meng, Vanessa Didelez -- Copy Number Variation / Louise V. Wain, Martin D. Tobin -- Epigenetic Variation / Kevin Walters -- Modeling the Effect of Susceptibility Factors (HLA and PTPN22) in Rheumatoid Arthritis / Hervé Perdry, Françoise Clerget-Darpoux -- Coronary Artery Disease: An Example Case Study / Jennifer H. Barrett -- The Genetic Epidemiology of Obesity: A Case Study / Laura M. Johnson.
- 2011 Springer ProtocolsTeare, M. Dawn.Molecular genetics and genetic variation / Mohammed-Elfatih Twfieg and M. Dawn Teare -- Terminology, concepts, and models in genetic epidemiology / M. Dawn Teare and Mauro F. Santibàñez Koref -- An introduction to epidemiology / Cother Hajat -- Genetic distance and markers used in linkage mapping / Kristina Allen-Brady and Nicola J. Camp -- Approaches to genetic linkage analysis / M. Dawn Teare -- Fine-scale structure of the genome and markers used in association mapping / Karen Curtin and Nicola J. Camp -- Genome-wide association studies / Mark M. Iles -- Candidate gene association studies / M. Dawn Teare -- Family-based association studies / Frank Dudbridge -- Genome variation : a review of web resources / Andrew Collins and William J. Tapper -- Advanced methods in twin studies / Jaakko Kaprio and Karri Silventoinen -- Mendelian randomisation : a tool for assessing causality in observational epidemiology / Nuala A. Sheehan, Sha Meng, and Vanessa Didelez -- Copy number variation / Louise V. Wain and Martin D. Tobin -- Epigenetic variation / Kevin Walters -- Modeling the effect of susceptibility factors (HLA and PTPN22) in rheumatoid arthritis / Hervé Perdry and Françoise Clerget-Darpoux -- Coronary artery disease : an example case study / Jennifer H. Barrett -- The genetic epidemiology of obesity : a case study / Laura M. Johnson.
- 2002 KargerCremers, C. W. R. J.; Smith, R.Also available: Print – 2002
- 2006 ScienceDirectAshizawa, Tetsuo; Wells, R. D.Overview. Overview of the field / Tetsuo Ashizawa and Robert D. Wells -- Myotonic dystrophy. Myotonic dystrophies: an overview / Tetsuo Ashizawa and Peter S. Harper. The RNA-mediated disease process in myotonic dystrophy / Charles A. Thornton, Maurice S. Swanson, and Thomas A. Cooper. cis Effects of CTG expansion in myotonic dystrophy type 1 / Sita Reddy and Sharan Paul. Normal and pathophysiological significance of myotonic dystrophy protein kinase / Derick G. Wansink, René E.M.A. van Herpen, and Bé Wieringa. Biochemistry of myotonic dystrophy protein kinase / Ram Singh and Henry F. Epstein. Clinical and genetic features of myotonic dystrophy type 2 / Jamie M. Margolis, Laura P.W. Ranum, and John W. Day. Myotonic dystrophy type 2: clinical and genetic aspects / Ralf Krahe, Linda L. Bachinski, and Bjarne Udd. The subtelomeric D4Z4 repeat instability in facioscapulohumeral muscular dystrophy / Silvére van der Maarel, Rune R. Frants, and George W. Padberg -- Fragile X syndrome. Fragile X syndrome and fragile X-associated tremor/ataxia syndrome / Randi J. Hagerman and Paul J. Hagerman. Animal models of fragile X syndrome: mice and flies / Ben A. Oostra and David L. Nelson. Chromosomal fragile sites: mechanisms of cytogenetic expression and pathogenic consequences / Robert I. Richards -- Kennedy's disease. Clinical features and molecular biology of Kennedy's disease / CheunJu Chen and Kenneth H. Fischbeck -- Huntington's disease. Molecular pathogenesis and therapeutic targets in Huntington's disease / John S. Bett, Gillian P. Bates, and Emma Hockly. Molecular pathogenesis of Huntington's disease: the role of excitotoxicity / Mahmoud A. Pouladi ... [et al.] Huntington's disease-like 2 / Russell L. Margolis ... [et al.] -- Friedreich's ataxia. Friedreich's ataxia / Massimo Pandolfo. Experimental therapeutics for Friedreich's ataxia / Robert B. Wilson. Evolution and instability of the GAA triplet-repeat sequence in Friedreich's ataxia / Irene De Biase, Astrid Rasmussen, and Sanjay I. Bidichandani. Mouse models for Friedreich's ataxia / Hélène Puccio. Triplexes, sticky DNA, and the (GAA-TTC) trinucleotide repeat associated with Friedreich's ataxia / Leslie S. Son and Robert D. Wells -- Spinocerebellar ataxias. Phosphorylation of ataxin-1: a link between basic research and clinical application in spinocerebellar ataxia type 1 / Kerri M. Carlson and Harry T. Orr. Spinocerebellar ataxia type 2 / Stefan M. Pulst. Machado-Joseph disease/spinocerebellar ataxia type 3 / Henry Paulson. Spinocerebellar ataxia type 6 / Hidehiro Mizusawa and Kinya Ishikawa. Pathogenesis of spinocerebellar ataxia type 7: new insights from mouse models and ataxin-7 function / Dominique Helmlinger and Didier Devys. Spinocerebellar ataxia type 7: clinical features to cellular pathogenesis / Gwenn A. Garden ... [et al.] Molecular genetics of spinocerebellar ataxia type 8 / Yoshio Ikeda ... [et al.] Spinocerebellar ataxia type 10: a disease caused by an expanded (ATTCT)n pentanucleotide repeat / Tetsuo Ashizawa. DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion / Vladimir N. Potman ... [et al.] Spinocerebellar ataxia type 12 / Susan E. Holmes ... [et al.] Spinocerebellar ataxia 17 and Huntington's disease-like 4 / Giovanni Stevanin and Alexis Brice -- Other polyamino acid repeats. Polyalanine and polyglutamine diseases: possible common mechanisms? / Aida Abu-Baker and Guy A. Rouleau -- Biophysics of polyQ. Chemical and physical properties of polyglutamine repeat sequences / Ronald Wetzel -- In vivo instability studies. Somatic mosaicism of expanded CAG·CTG repeats in humans and mice: dynamics, mechanisms, and consequences / Peggy F. Shelbourne and Darren G. Monckton. Transgenic mouse models of unstable trinucleotide repeats: toward an understanding of disease-associated repeat size mutation / Mário Gomes-Pereira, Laurent Foiry, and Geneviève Gourdon -- Insect models. Drosophila models of polyglutamine disorders / George R. Jackson, Tzu-Kang Sang, and J. Paul Taylor -- Instability mechanisms in vivo and in vitro. Involvement of genetic recombination in microsatellite instability / Ruhee Dere, Micheal L. Hebert, and Marek Napierala. Bending the rules: unusual nucleic acid structures and disease pathology in the repeat expansion diseases / Karen Usdin. Replication of expandable DNA repeats / Sergei M. Mirkin. Error-prone repair of slipped (CTG)·(CAG) repeats and disease-associated expansions / Gagan B. Panigrahi ... [et al.] DNA repair models for understanding triplet repeat instability / Yuan Liu, Rajendra Prasad, and Samuel H. Wilson. Models of repair underlying trinucleotide DNA expansion / Irina V. Kovtun and Cynthia T. McMurray. Transcription and triplet repeat instability / Yunfu Lin, Vincent Dion, and John H. Wilson. Structural characteristics of trinucleotide repeats in transcripts / Wlodzimierz J. Krzyzosiak, Krzysztof Sobczak, and Marek Napierala -- Mutations in flanking sequences. Gross rearrangements caused by long triplet and other repeat sequences / Albino Bacolla [et al.] -- Cancer and genetic instability. Microsatellite instability in cancer / Michael J. Siciliano.Also available: Print – 2006
- 2004 NCBI BookshelfDean, Laura; McEntyre, Johanna.
- 2016 Springer ProtocolsBose, Jeffrey L.Understanding staphylococcal nomenclature / Christina N. Krute and Jeffrey L. Bose -- Restriction-modification systems as a barrier for genetic manipulation of Staphylococcus aureus / Marat R. Sadykov -- Complementation plasmids, inducible gene-expression systems, and reporters for Staphylococci / Ralph Bertram -- De novo assembly of plasmids using yeast recombinational cloning / Ameya A. Mashruwala and Jeffrey M. Boyd -- Splicing by overlap extension PCR to obtain hybrid DNA products / Justin A. Thornton -- Method for preparation and electroporation of S. aureus and S. epidermidis / Melinda R. Grosser and Anthony R. Richardson -- Rapid isolation of DNA from staphylococcus / Kelsey L. Krausz and Jeffrey L. Bose -- Bacteriophage transduction in Staphylococcus aureus : broth-based method / Kelsey L. Krausz and Jeffrey L. Bose -- Bacteriophage transduction in Staphylococcus aureus / Michael E. Olson -- Batch transduction of transposon mutant libraries for rapid phenotype screening in staphylococcus / Katherine L. Maliszewski -- Conjugative transfer in Staphylococcus aureus / Cortney R. Halsey and Paul D. Fey -- Allelic exchange / McKenzie K. Lehman, Jeffrey L. Bose, and Kenneth W. Bayles -- Creation of staphylococcal mutant libraries using transposon Tn917 / Kelly C. Rice -- Generation of a transposon mutant library in Staphylococcus aureus and staphylococcus epidermidis using bursa aurealis / Vijaya Kumar Yajjala ... [et al.] -- Chemical and UV mutagenesis / Jeffrey L. Bose -- Pulse field gel electrophoresis / Batu K. Sharma-Kuinkel, Thomas H. Rude, and Vance G. Fowler Jr. -- RNA-sequencing of Staphylococcus aureus messenger RNA / Ronan K. Carroll, Andy Weiss, and Lindsey N. Shaw -- Quantitative real-time PCR (qPCR) workflow for analyzing Staphylococcus aureus gene expression / April M. Lewis and Kelly C. Rice -- Electrophoretic mobility shiftaAssays / Sarah E. Rowe and James P. O'Gara -- Rapid amplification of cDNA ends for RNA transcript sequencing in staphylococcus / Eric Miller.
- 2009 ScienceDirectSawa, Akira.
- 2009 Springer ProtocolsBaum, Christopher.Immunomagnetic enrichment of human and mouse hematopoietic stem cells for gene therapy applications / Guillermo Guenechea, Jose C. Segovia, and Juan A. Bueren -- Isolation of human and mouse hematopoietic stem cells / Yuk Yin Ng ... [et al.] -- Murine hematopoietic stem cell transduction using retroviral vectors / Ute Modlich ... [et al.] -- Genetic modification of human hematopoietic cells: preclinical optimization of oncoretroviral-mediated gene transfer for clinical trials / Tulin Budak-Alpdogan and Isabelle Rivière -- Short-term culture of human CD34⁺ cells for lentiviral gene transfer / Francesca Santoni de Sio and Luigi Naldini -- T cell culture for gammaretroviral transfer / Sebastian Newrzela, Gunda Brandenburg, and Dorothee von Laer -- Retroviral transduction of murine primary T lymphocytes / James Lee, Michel Sadelain, and Renier Brentjens -- Lentiviral vector gene trasfer into human T cells / Els Verhoeyen, Caroline Costa, and Francois-Loic Cosset -- DNA transposons for modification of human primary T lymphocytes / Xin Huang ... [et al.] -- Retroviral gene transfer into primary human natural killer cells / Evran Alici, Tolga Sutlu, and M. Sirac Dilber -- Lentiviral vector-mediated genetic programming of mouse and human dendritic cells / Renata Stripecke -- In situ (in vivo) gene transfer into murine bone marrow stem cells / Dao Pan -- In vivo and ex vivo gene transfer in thymocytes and thymocyte precursors / Oumeya Adjali ... [et al.] -- Design and production of retro- and lentiviral vectors for gene expression in hematopoietic cells / Axel Schambach, William P. Swaney, and Johannes C.M. van der Loo -- Knock-down of gene expression in hematopoietic cells / Michaela Scherr, Letizia Venturiani, and Matthias Eder -- The use of retroviral vectors for tet-regulated gene expression in cell populations / Rainer Löw -- Detection of replication competent retrovirus and lentivirus / Lakshmi Sastry and Kenneth Cornetta -- Release testing of retroviral vectors and gene-modified cells / Diana Nordling, Anne Kaiser, and Lilith Reeves -- Copy number determination of genetically-modificed hematopoietic stem cells / Todd Schuesler ... [et al.] -- Tissue procurement for molecular studies using laser-assisted microdissection / Ulrich Lehmann and Hans Kreipe -- Leukemia diagnosis in murine bone marrow transplantation models / Zhixiong Li, Ute Modlich, and Anjali Mishra -- Humanized mouse models to study the human haematopoietic stem cell compartment / Dominique Bonnet -- Canine models of gene-modified hematopoiesis / Brian C. Beard and Hans-Peter Kiem -- Detection of retroviral integration sites by linear amplification-mediated PCR and tracking of individual integration clones in different samples / Manfred Schmidt ... [et al.] -- Retroviral insertion site analysis in dominant haematopoietic clones / Olga S. Kustikova, Ute Modlich, and Boris Fehse -- Tracking gene-modified T cells in vivo / Alessandra Recchia and Fulvio Mavilio -- DNA microarray studies of hematopoietic subpopulations / Karin Pike-Overzet ... [et al.] -- Quantification of genomic mutations in murine hematopoietic cells / Hartmut Geiger ... [et al.] -- Proteomics studies after hematopoietic stem cell transplantation / Eva M. Weissinger, Petra Zürbig, and Arnold Ganser -- Spectral karyotyping and fluorescence in situ hybridization of murine cells / Cornelia Rudolph and Brigitte Schlegelberger -- Database setup for preclinical studies of gene-modified hematopoiesis / Brenden Balcik, Elke Grassman, and Lilith Reeves -- The US and EU regulatory perspectives on the clinical use of hematopoietic stem/progenitor cells genetically modified ex vivo by retroviral vectors / Carolyn A. Wilson and Klaus Cichutek.
- 2009Espinosa, Juan Sebastian.
- 2014 SpringerAngelini, C.Section 1 Muscular Dystrophies -- Duchenne Muscular Dystrophy -- Duchenne Muscular Dystrophy carrier -- Becker Muscular Dystrophy -- Emery-Dreifuss Muscular Dystrophy type 1 -- Emery-Dreifuss Muscular Dystrophy type 2 -- Limb Girdle Muscular Dystrophy type 1B -- Limb Girdle Muscular Dystrophy type 1C -- Limb Girdle Muscular Dystrophy type 1F -- Limb Girdle Muscular Dystrophy type 2A -- Limb Girdle Muscular Dystrophy type 2B -- Limb Girdle Muscular Dystrophy type 2C -- Limb Girdle Muscular Dystrophy type 2D -- Limb Girdle Muscular Dystrophy type 2E -- Limb Girdle Muscular Dystrophy type 2F -- Limb Girdle Muscular Dystrophy type 2I -- Limb Girdle Muscular Dystrophy type 2K -- Limb Girdle Muscular Dystrophy type 2N -- Congenital Muscular Dystrophy type 1A -- Congenital Muscular Dystrophy type 1C -- Congenital Muscular Dystrophy with rigid spine -- Congenital Muscular Dystrophy with integrin-alpha-7 deficiency -- Congenital Muscular Dystrophy, Ullrich type -- Bethlem myopathy -- Facio Scapulo Humeral Muscular Dystrophy type 1A -- Facio Scapulo Humeral Muscular Dystrophy type 2 -- Section 2: Congenital Myopathies -- Congenital Multi-Mini-Core Myopathy -- Congenital Central-Core Myopathy with Malignant Hyperthermia -- Congenital Centronuclear Myopathy type 1 -- Congenital Hyaline Body Myopathy -- Congenital Myotubular Myopathy -- Congenital Nemaline Myopathy type 2 -- Congenital Fiber Type Disproportion type 1 -- Congenital Fiber Type Disproportion -- Congenital Myofibrillar Myopathy type 1 -- Congenital Myofibrillar Myopathy type 6 -- Congenital Tubular Aggregate Myopathy -- Hereditary Inclusion Body Myopathy type 2 -- Section 3: Ion Channel Disorders -- Myotonic Dystrophy type 1, Steinert Disease -- Congenital Myotonic Dystrophy -- Myotonic Dystrophy type 2, Proximal Myotonic Myopathy -- Congenital Myotonia, Thomsen Disease -- Hyperkalemic Periodic Paralysis -- Hypokalemic Periodic Paralysis type 1 -- Slow-channel Congenital Myasthenic Syndrome -- Congenital Myasthenic Syndrome -- Brody Disease -- Section 4: Metabolic Myopathies -- Glycogenosis type 2, Pompe Disease -- Glycogenosis type 3, Cori-Forbes Disease -- Glycogenosis type 5, McArdle Disease -- Danon Disease -- Kearns-Sayre Syndrome -- Chronic Progressive External Ophthalmoplegia -- MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like) -- Leigh Syndrome due to COX Deficiency -- Mitochondrial Encephalopathy with COX Deficiency -- Coenzyme Q10 Deficiency -- Multiple Symmetrical Lipomatosis -- NARP (Neuropathy, Ataxia, Retinitis Pigmentosa) -- SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis) -- Systemic Primary Carnitine Deficiency -- Neutral Lipid Storage Disease with Ichthyosis -- Neutral Lipid Storage Disease with Myopathy -- Multiple Acyl-CoA Dehydrogenase Deficiency -- Carnitine-Palmitoyl-Transferase-II Deficiency -- Niemann-Pick Disease type C1 -- Section 5: Neurogenic Disorders -- Spinal Muscular Atrophy type 1, Werdnig-Hoffmann Disease -- Spinal Muscular Atrophy type 2 -- Spinal Muscular Atrophy type 3, Kugelberg-Welander Disease -- Spinal Bulbar Muscular Atrophy, Kennedy Disease -- Charcot-Marie-Tooth Disease type 1A -- Charcot-Marie-Tooth Disease type 1B -- Charcot-Marie-Tooth Disease neuronal type -- Charcot-Marie-Tooth Disease type 4A -- Charcot-Marie-Tooth Disease with pyramidal features -- Charcot-Marie-Tooth Disease type X1 -- Distal Spinal Muscular Atrophy -- Hereditary Neuropathy with Pressure Palsies -- Friedreich Ataxia -- Spastic Ataxia, Charlevoix-Saguenay type -- Ataxia-Telangiectasia, Louis-Bar Syndrome -- Spastic Paraparesis type 4 -- Spastic Paraparesis type 7 -- Optic Atrophy Plus Syndrome -- Amyotrophic Lateral Sclerosis type 1 -- Amyotrophic Lateral Sclerosis.
- Genetic probing of the origin of alveolar myofibroblasts and bronchopulmonary dysplasia, a disease of alveolar development2013St. Julien, Krystal Renee; Brown, Patrick O.; Krasnow, Mark; Spudich, James A.Alveolarization, the final stage of lung development, promotes gas-exchange by dividing the sac-like terminal airspaces of the lung into thin-walled pockets. Myofibroblasts are found at sites of septation, and mouse mutants in PDGFR alpha signaling lack myofibroblasts and air sacs fail to septate, suggesting that myofibroblasts play a role in septation. Further, a similar arrest in alveolarization is observed in diseases like bronchopulmonary dysplasia (BPD), a disease of premature infants that twin studies implicate may have important genetic contributions. In this thesis, I explore the developmental origins of myofibroblasts in mouse and the genetic basis of BPD. I first describe a novel protocol developed to extract DNA from dried blood spots taken from newborn infants that can be used in genotyping and genome-wide association studies (GWAS). I then describe an agnostic exploration of the genetic basis of BPD. Finally, I describe the use of genetic lineage tracing in mice to identify airway smooth muscle cells as a source of ductal myofibroblasts during lung development.
- Genetic programming : 11th European Conference, EuroGP 2008, Naples, Italy, March 26-28, 2008 : proceedings2008 SpringerO'Neill, Michael.
- 2003 ScienceDirectSherbet, G. V.
- 2012 CambridgeChapman, Audrey R."The manner in which genetic research associated with addiction is conducted, interpreted and translated into clinical practice and policy initiatives raises important social, ethical and legal issues. Genetic Research on Addiction fulfils two key aims; the first is to identify the ethical issues and requirements arising when carrying out genetically-based addiction research, and the second is to explore the ethical, legal and public policy implications of interpreting, translating and applying this research. The book describes research guidelines on human protection issues such as improving the informed consent process, protecting privacy, responsibilities to minors and determining whether to accept industry funding. The broader public health policy implications of the research are explored and guidelines offered for developing effective social interventions. Highly relevant for clinicians, researchers, academics and policy-makers in the fields of addiction, mental health and public policy"--Provided by publisher.
- Genetic studies of endocrine function and metabolic regulation by the corpora cardiaca cells in Drosophila melanogaster2011Bustamante, Erika Liliana; Clandinin, Thomas R.; Fuller, Margaret T.; Kim, Seung K.; Tsao, Philip.In humans, the hormones insulin and glucagon are the principal regulators of blood sugar homeostasis. In the fruit fly, Drosophila melanogaster, the regulation of circulating sugar levels is similarly controlled by insulin-like and glucagon-like factors. Insulin signaling in Drosophila has been studied intensively; by contrast, relatively little is known about the genetic regulation of Drosophila Adipokinetic hormone (Akh), the polypeptide with glucagon-like functions, and the corpora cardiaca (CC) cells that produce Akh. Here I describe the use of an enhancer trap screen that led to the identification of a novel regulator of CC function, the homeodomain transcription factor unplugged (unpg). Knocking down unpg in the CC cells results in decreased Akh transcript levels and reduced circulating glucose and trehalose. I also describe the identification of a number of enhancer traps that are capable of driving GFP expression in the CC cells, suggesting a role for the associated genes in CC cell function. As in human diabetes, insulin deficiency in the fruit fly elevates circulating glucose levels and impairs triglyceride regulation. Reduced insulin signaling in Drosophila also increases expression of the adipokine Akh, a phenotype reminiscent of the excessive glucagon signaling that accompanies human diabetes. Thus, it remains unclear if insulin deficiency or adipokine excess is the primary basis for diabetic phenotypes in flies lacking insulin-producing cells. Here I show that simultaneous targeted ablation of cells producing Drosophila insulin and adipokinetic hormone results in hypoglycemia. Mutation of the gene encoding the Akh receptor (Akhr) reduces circulating glucose levels in adult Drosophila lacking insulin, arguing that excessive Akh signaling is the basis for hyperglycemia in insulin-deficient flies. Simultaneous attenuation of insulin and Akh synthesis also produced hypoglycemic flies. Similar approaches revealed triglyceride imbalance from insulin deficiency requires Akh. Thus adipokines like Akh, not insulin, may be the principal hormonal regulators of glucose and lipid balance in some non-mammalian animal classes and states of insulin deficiency.
- v. 1-5, <1925>Terman, Lewis Madison.v. 1. Mental and physical traits of a thousand gifted children / L.M. Terman, assisted by B.T. Baldwin, and others -- v. 2. The early mental traits of three hundred geniuses / C.M. Cox, assisted by L.O. Gillan and others -- v. 3. The promise of youth; follow-up studies of a thousand gifted children / B.S. Burks and others -- v. 4. The gifted child grows up; twenty-five years' follow-up of a superior group / L.M. Terman and M.H. Oden -- v. 5. The gifted group at mid-life; thirty-five years' follow-up of the superior child / L.M. Terman and M.H. Oden.
- 2003 Wellcome TrustChristie, D. A.; Tansey, E. M.
- 2012 Springer ProtocolsParry, Elizabeth M.; Parry, J. M.The application of structure-activity relationships to the prediction of the mutagenic activity of chemicals / Philip Judson -- Bacterial mutagenicity assays : test methods / David Gatehouse -- The mouse lymphoma assay / Melvyn Lloyd and Darren Kidd -- Mammalian cell HPRT gene mutation assay : test methods / George E. Johnson -- The in vitro mammalian chromosome aberration test / Gill Claire -- The interpretation and analysis of cytogenetic data / Natalie Danford -- The in vitro micronucleus assay / Ann T. Doherty -- The in vitro and in vivo comet assays / Brian Burlinson -- Assessment of DNA interstrand crosslinks using the modified alkaline comet assay / Jian Hong Wu and Nigel J. Jones -- 32P-postlabelling for the sensitive detection of DNA adducts / Nigel J. Jones -- Methods for the detection of DNA adducts / Karen Brown -- The GADD45a-GFP GreenScreen HC assay / Richard M. Walmsley and Matthew Tate -- Real-time reverse-transcription polymerase chain reaction : technical considerations for gene expression analysis / Shareen H. Doak and Zoulikha M. Zaïr -- Cytogenetic in vivo assays in somatic cells / Ann T. Doherty, Adi Baumgartner, and Diana Anderson -- Cytogenetic methods in human biomonitoring : principles and uses / Raluca A. Mateuca, Ilse Decordier, and Micheline Kirsch-Volders -- The measurement of induced genetic change in mammalian germ cells / Ilse-Dore Adler, Francesca Pacchierotti, and Antonella Russo -- Transgenic animal mutation models : a review of the models and how they function / Steve Dean -- Analysis of genotoxicity data in a regulatory context / Ian de G. Mitchell and David O.F. Skibinski.
- 2006Hecker, Karl Heinz.
- 2013 SpringerCarrasquillo, Minerva M.; Morgan, Kevin.Since 2009, a revolution has been witnessed in Alzheimer's Disease genetics. New genetic links are being discovered at an unprecedented pace and our understanding of the molecular mechanisms of neurodegeneration have taken a quantum leap forward. This book provides a thorough description of the genes that have been implicated in the aetiology of late-onset Alzheimer's disease (LOAD) based on evidence of genetic association. These "AD susceptibility genes" are described both in their genomic and cellular context, as well as with respect to their known or suspected molecular functions. Although these genes are not sufficient to explain all of the genetic contributions to LOAD, they represent the best replicated set of genes to date. Undoubtedly the list will grow as more advanced genomic approaches towards the identification of novel LOAD genes progresses.
- 2010 SpringerDumitrescu, Alexandrina L.; Kobayashi, Junya.Classification of periodontal diseases -- Evidence for the role of genetic variants in periodontitis -- A gene mutation of major effect on human disease and its association with periodontitis -- Modifying disease genes in relation to periodontitis -- Heritability of chronic periodontitis -- Heritability of aggressive periodontitis -- Heritability of gingivitis -- Heritability of peri-implantitis -- Common guidelines for association studies -- Clinical utility of genetic knowledge.
- 2012 Springer ProtocolsMartin, Jean-René.In vivo functional brain imaging using a genetically encoded Ca2+-scensitive bioluminescence reporter, GFP-Aequorin / Jean-Rene Martin -- Ca2+ imaging in brain slices using bioluminescent reporters / Ludovic Tricoire, Estelle Drobac, and Bertrand Lambolez -- Calcium imaging of neural activity in the olfactory system of drosophila / Antonia Strutz [and others] -- Functional imaging of antennal lobe neurons in drosophila with synapto-pHluorin / Dinghui Yu and Ronald L. Davis -- Performing electrophysiology and two-photon calcium imaging in the adult drosophila central brain during walking behavior / M. Eugenia Chiappe and Vivek Jayaraman -- In Vivo optical recording of brain interneuron activities from a drosophila male on a treadmill / Soh Kohatsu, Masayuki Koganezawa, and Daisuke Yamamoto -- Two-photon imaging of population activity with genetically encoded calcium indicators in living flies / Robert A.A. Campbell [and others] -- Engineering and application of genetically encoded calcium indicators / Jasper Akerboom [and others] -- Imaging cAMP dynamics in the drosophila brain with the genetically encoded sensor Epac1-Camps / Katherine R. Lelito and Orie T. Shafer.
- 2003 WileyHeller, Knut.Part 1. Application and Perspectives -- ch. 1. Transgenic Modification of Production Traits in Farm Animals / Mathias Müller and Gottfried Brem -- ch. 2. Genetically Modified Plants / Susanne Stirn and Horst Lörz -- ch. 3. Fermented Food Production using Genetically Modified Yeast and Filamentous Fungi / Anke Niederhaus and Ulf Stahl -- ch. 4. Production of Food Additives using Filamentous Fungi / Carsten M. Hjort -- ch. 5. Perspectives of Genetic Engineering of Bacteria used in Food Fermentations / Arnold Geis -- Part II. Legislation in Europe -- ch. 6. The Legal Situation for Genetically Engineered Food in Europe / Rudolf Streinz and Lars O. Fuchs -- Part III. Methods of Detection -- ch. 7. Detection of Genetic Modifications: Some Basic Considerations / Knut J. Heller -- ch. 8. DNA-based Methods for Detection of Genetic Modifications / Ralf Einspanier and Stephanie Rief -- ch. 9. Genetic Engineering of Fishes and Methods for Detection / Hartmut Rehbein -- ch. 10. Detection Methods for Genetically Modified Crops / Rolf Meyer -- ch. 11. Methods to Detect the Application of Genetic Engineering in Composed and Processed Foods / Karl-Heinz Engel and Francisco Moreano -- ch. 12. Mutations in Lactococcus lactis, and their Detection / Jan Kok and Bertus van den Burg -- ch. 13. Detection Methods for Genetically Modified Microorganisms used in Food Fermentation / Walter P. Hammes, Christian Hertel and Torsten Bauer.
- 2006 WileyHeller, Knut.Part I. Application and Perspectives -- ch. 1. Transgenic modification of production traits in farm animals / Gottfried Brem, Mathias Müller -- ch. 2. Genetically modified plants / Susanne Stirn, Horst Lörz -- ch. 3. Fermentation of food by means of genetically modified yeast and filamentous fungi / Rena Leisegang, Elke Nevoigt, Anja Spielvogel, Georg Kristan, Anke Niederhaus, Ulf Stahl -- ch. 4. Production of food additives using filamentous fungi / Carsten M. Hjort -- ch. 5. Genetic engineering of bacteria used in food fermentation / Arnold Geis -- Part II. Legislation in Europe -- ch. 6. The Legal situation for genetically engineered food in Europe / Rudolf Streinz, Jan Kalbheim -- Part III. Methods of Detection -- ch. 7. Detection of genetic modifications : some basic considerations / Knut J. Heller -- ch. 8. DNA-based methods for detection of genetic modifications / Ralf Einspanier -- ch. 9. Genetic engineering of fish, and methods of detection / Hartmut Rehbein -- ch. 10. Detection methods for genetically modified crops / Rolf Meyer -- ch. 11. Methods for detection of genetically modified organisms in composite and processed foods / Karl-Heinz Engel, Francisco Moreano, Alexandra Ehlert -- ch. 12. Mutations in Lactococcus lactis and their detection / Jan Kok, Bertus van den Burg -- ch. 13. Methods for detection of genetically modified microorganisms used in food fermentation processes / Walter P. Hammes, Christian Hertel, Torsten Bauer.
- Genetically engineered mice for cancer research : design, analysis, pathways, validation and pre-clinical testing2012 SpringerGreen, Jeff; Ried, Thomas.Overview of designing genetically engineered mouse (GEM) models -- Use of Cre-loxP technology and inducible systems to generate mouse models of cancer -- Using recombineering technology to create genetically engineered mouse models -- Insertional mutagenesis for generating mouse models of cancer -- RCAS/TVA somatic gene transfer method in modeling human cancer -- Target-selected ENU mutagenesis to develop cancer models in the rat -- Tumor pathology of genetically engineered mice: genomic pathology -- Genomic DNA copy number alterations in mouse cancer models and human cancer -- Characterization of chromosomal translocations in mouse models of hematological malignancies using spectral karyotyping, FISH, and immunocytochemistry -- Expression profiling of mouse models of human cancer: model categorization and guidance for preclinical testing -- Imaging mouse models of human cancer -- Identifying mammary epithelial stem and progenitor cells -- Differentiation programs in development and cancer -- Roles of p53 and pRB tumor suppressor networks in human cancer: insight from studies in the engineered mouse -- Mouse models for colorectal cancer -- Src family tyrosine kinases: implications for mammary tumor progression -- Maspin and suppresion of tumor metastasis -- Epigenetic mouse models -- Modeling transforming growth factor-ss signalling in cancer -- Modeling stromal-epithelial interactions -- Utilizing mouse models of human cancer for assessing immune modulation of cancer development -- Transplanted tumor models for preclinical drug testing and the potential benefit of genetically engineered mouse models -- Development and use of genetically tractable preclinical mouse models -- Animal models for breast cancer prevention research -- Oncogene addiction: mouse models and clinical relevance for molecularly targeted therapies -- Mouse models in preclinical drug development: applications to CNS models -- Mouse models of human cancer: role in preclinical testing and personalized medicine -- Mighty, bow how useful? The emerging role of genetically engineered mice in cancer drug discovery and development.
- 2006 CRCnetBASEIchiki, Tsutomu; Sundberg, John P.
- 2002 CRCnetBASEBurrows, Beth Elpern; Letourneau, Deborah Kay.
- 2012 KargerPiguet, Pascale; Poindron, Philippe.Genetically modified organisms : concepts and methods -- Restriction enzymes : from their discovery to their applications -- Transforming growth factor-beta superfamily : animal models for development and disease -- Transfection of human neuroblastoma cells with Alzheimer's Disease brain hallmarks as a promising strategy to investigate the role of neurosteroidogenesis in neuroprotection -- Investigating therapeutic strategies for Fragile X syndrome in mice -- Innovative therapeutic perspectives in neuromuscular diseases -- Gene therapy for cancer treatment : state of the art -- Manipulating the mitochondrial genetic system.
- 2009Hartl, Daniel L.; Jones, Elizabeth W.Genes, genomes, and genetic analysis -- DNA structure and genetic variation -- Transmission genetics : the principle of segregation -- Chromosomes and sex-chromosome inheritance -- Genetic linkage and chromosome mapping -- Molecular biology of DNA replication and recombination -- Molecular organization of chromosomes -- Human karyotypes and chromosome behavior -- Genetics of bacteria and their viruses -- Molecular biology of gene expression -- Molecular mechanisms of gene regulation -- Genomics, proteomics, and transgenics -- Genetic control of development -- Molecular mechanisms of mutation and DNA repair -- Molecular genetics of the cell cycle and cancer -- Mitochondrial DNA and extranuclear inheritance -- Molecular evolution and population genetics -- The genetic basis of complex traits.
- 2008Hartwell, Leland.Genetics: the study of biological information -- Mendel's breakthrough: patterns, particles, and principles of heredity -- Extensions to mendel: complexities in relating genotype to phenotype -- The chromosome theory of inheritance -- Linkage, recombination, and the the mapping of genes on chromosomes -- DNA: how the molecule of heredity carries, replicates, and recombines information -- Anatomy and function of a gene: dissection through mutation -- Gene expression: the flow of genetic information from DNA to RNA to protein -- Deconstructing the genome: DNA at high resolution -- Reconstructing the genome through genetic and molecular analysis -- The direct detection of genotype distinguishes individual genomes -- Systems biology and proteomics -- The eukaryotic chromosome: an organelle for packaging and managing DNA -- Chromosomal rearrangements and changes in chromosome number reshape eukaryotic genomes -- The prokaryotic chromosome: genetic analysis in bacteria -- The chromosomes of organelles outside the nucleus exhibit non-mendelian patterns of inheritance -- Gene regulation in prokaryotes -- Gene regulation in eukaryotes -- Cell-cycle regulation and the genetics of cancer -- Using genetics to study development -- The genetic analysis of populations and how they evolve -- Evolution at the molecular level.
- 2010 SpringerDunwoodie, Sally L.; Kusumi, Kenro.
- 2014Strachan, T.; Chinnery, Patrick F.; Goodship, J."Genetics and Genomics in Medicine is a new textbook written for undergraduate and graduate students, as well as medical researchers, which explains the science behind the uses of genetics and genomics in medicine today. It is not just about rare inherited and chromosomal disorders, but how genetics affects the whole spectrum of human health and disease. DNA technologies are explained, with emphasis on the modern techniques that have revolutionized the use of genetic information in medicine and are indicating the role of genetics in common complex diseases. The detailed, integrative coverage of genetic approaches to treatment and prevention includes pharmacogenomics and the prospects for personalized medicine. Cancers are essentially genetic diseases and are given a dedicated chapter that includes new insights from cancer genome sequencing. Clinical disorders are covered throughout and there are extensive end-of-chapter questions and problems"--Provided by publisher.
- 2011Hong, Lewis Zuocheng; Barsh, Gregory Stefan; Fire, Andrew Z.; Kingsley, David M.; Sidow, Arend.Hundreds of coat color loci have been cloned and studied in the laboratory mouse, and most aspects of the mouse pigmentary system are conserved in other mammals. However, comparative zoologic studies suggest that some components of mammalian pigmentation are not represented as coat color mutations in laboratory mice. This dissertation aims to advance our molecular understanding of mammalian pigmentation, and strives to identify novel components of the genetic toolkit involved in generating the diverse array of coat color patterns found in nature. In the Syrian hamster, X-linked inheritance of the Sex-linked yellow (Sly) mutation results in irregular patches of black and yellow hair in heterozygous females. Female-specific variegation of black and yellow coat color is also present in the domestic cat, but curiously absent from other vertebrate species. Using a combination of comparative genomics and linkage mapping, I made key contributions towards defining a candidate interval for the Sly mutation and discovering that the hamster and cat mutations lie in non-homologous regions of the X chromosome. Periodic color patterns on animal skin, such as cheetah spots and zebra stripes, are evident across the mammalian phylogeny, but their molecular basis remains a mystery. Taking advantage of improvements in ultra high-throughput sequencing technologies, I developed a methodology called EDGE, or EcoP15I-tagged Digital Gene Expression, that is well suited for gene expression profiling in non-model organisms. Applying EDGE to black spot and yellow background regions of cheetah skin, I discovered that localized differences in Endothelin-3 expression is likely to be responsible for maintaining black spotting through a pigment-type switching mechanism in hair follicle melanocytes. The use of EDGE and other genomic approaches to generate comparative molecular profiles of mammalian skin patterns is likely to open new avenues of research into mammalian pigment patterning and initiate a molecular renaissance for a set of questions that has mostly resided in the area of theoretical biology for the past few decades.
- 2008 SpringerSandberg, Avery A.; Stone, John F.
- Genetics and parallel evolution of pelvic reduction in the threespine stickleback (Gasterosteus aculeatus)2006Marks, Melissa Ellen.
- 2010 CRCnetBASERuvinsky, Anatoly.Limits and uncertainty in nature and logic -- Quantum fluctuations, mutations, and "fixation" of uncertainty -- Recombination and randomness -- Uncertainty of development -- Organized randomness -- Random genetic drift and "deterministic" selection -- Life : making uncertainty certain.
- 2009 KargerCollins, Malcolm.Key concepts in human genetics : understanding the complex phenotype / W.T. Gibson -- Nature versus nurture in determining athletic ability / T.D. Brutsaert, E.J. Parra -- Genetics and sports : an overview of the pre-molecular biology era / M.W. Peeters ... [et al.] -- Genes, athlete status, and training : an overview / I.I. Ahmetov, V.A. Rogozkin -- Angiotensin : converting enzyme, renin-angiotensin system and human performance / D. Woods -- Actinin-3 and performance / N. yang, F. Garton, K. North -- East African runners : their genetics, lifestyle, and athletic prowess / V.O. Onywera -- Gene-lifestyle interactions and their consequences on human health / J. Pomeroy, A.M. Söderberg, P.W. Franks -- Genetic risk factors for musculoskeletal soft tissue injuries / M. Collins, S.M. Raleigh -- Innovative strategies for treatment of soft tissue injuries in human and animal athletes / A. Hoffmann, G. Gross -- Gene doping : possibilities and practicalities / D.J. Wells -- Genetic testing of athletes / A.G. Williams, H. Wackerhage -- The future of genetic research in exercise science and sports medicine / R.J. Trent, B. Yu.
- 2012Lee, Catherine Y.; Nelson, Alondra; Wailoo, Keith.PrintLane Catalog RecordWho am I? Genes and the problem of historical identity / Keith Wailoo -- Reconciliation projects : from kinship to justice / Alondra Nelson -- The unspoken significance of gender in constructing kinship, race, and nation / Catherine Lee -- A biologist's perspective on DNA and race in the genomics era / Abram Gabriel -- The dilemma of classification : the past in the present / Lundy Braun and Evelynn Hammonds -- The informationalization of race : communication, databases, and the digital coding of the genome / Peter A. Chow-White -- Forensic DNA phenotyping : continuity and change in the history of race, genetics, and policing / Pamela Sankar -- Forensic DNA and the inertial power of race in American legal practice / Jonathan Kahn -- Making history via DNA, making DNA from history : deconstructing the race-disease connection in admixture mapping / Ramya Rajagopalan and Joan H. Fujimura -- Waiting on the promise of prescribing precision : race in the era of pharmacogenomics / Sandra Soo-Jin Lee -- French families, paper facts : genetics, nation, and explanation / Nina Kohli-Laven -- Categorization, census, and multiculturalism : molecular politics and the material of nation / Amy Hinterberger -- "It's a living history, told by the real survivors of the times-DNA" : anthropological genetics in the tradition of biology as applied history / Marianne Sommer -- Cells, gene, and stories : HeLa's journey from labs to literature / Priscilla Wald -- The case of the genetic ancestor / Jennifer A. Hamilton -- Making sense of genetics, culture, and history : a case study of a native youth education program / Michelle M. Jacob -- Humanitarian DNA identification in post-apartheid South Africa / Jay D. Aronson -- Forbidden or forsaken? The (mis)use of a forbidden knowledge argument in research on race, DNA, and disease / Reanne Frank -- Genetic claims and credibility : revisiting history and remaking race / Keith Wailoo, Catherine Lee, and Alondra Nelson.
- 2005 NCBI BookshelfMorrison, Patrick J.; Spence, Roy A. J.
- 2014 KargerGloyn, Anna L.; McCarthy, Mark I.Genome-wide association studies in type 2 diabetes / Beer, N.L.; McCarthy, M.I. -- Fine mapping type 2 diabetes susceptibility loci / Morris, A.P. -- Whole genome and exome sequencing of type 2 diabetes / Gaulton, K.; Flannick, J.; Fuchsberger, C. -- Genome-wide association studies of glycaemic traits : a magical journey / Florez, J.C.; Barroso, I. -- Genome-wide association studies of obesity and related traits / Mohlke, K.L.; Lindgren, C.M. -- Next-generation sequencing for the diagnosis of monogenic diabetes and discovery of novel aetiologies / Ellard, S.; De Franco, E. -- Whole-exome sequencing of patients with severe disorders of insulin action / Semple, R.; Barroso, I. -- Epigenetic modifications and type 2 diabetes in humans / Ling, C. -- Insights into ?-cell biology and type 2 diabetes pathogenesis from studies of the islet transcriptome / van de Bunt, M.; Morán, I.; FerrerJ.; McCarthy, M.I. -- Genomics of adipose tissue / Pinnick, K.E.; Karpe, F. -- Translating genetic association signals for diabetes and metabolic traits into molecular mechanisms for disease / Rees, M.G.; Gloyn, A.L. -- Understanding molecular mechanisms for diabetes and obesity through mouse models / Merkestein, M.; Cox, R.; Ashcroft, F. -- Genetics of drug response in diabetes / Pearson, E.R.; Florez, J.C. -- Translating advances in our understanding of the genetics of diabetes into the clinic / Gardner, D.S.; Owen, K.R.; Gloyn, A.L.
- 2003 KargerKohl, Susanne; Langenbeck, U.; Wissinger, B.A glimpse into genomeland / Langenbeck, U. -- Epidemiology of hereditary ocular disorders / Rosenberg, T. -- Interactions of genes and environment in myopia / Feldkämper, M., Schaeffel, F. -- A molecular perspective on corneal dystrophies / Vincent, A.L., Rootman, D., Munier, F.L., Héon, E. -- Molecular genetics of cataract / Hejtmancik, J.F., Smaoui, N. -- Progress in the genetics of glaucoma / Weisschuh, N., Schiefer U. -- LHON and other optic nerve atrophies: the mitochondrial connection / Howell, N. -- Retinitis pigmentosa: genes, proteins and prospects / Hims, M.M., Diager, S.P., Inglehearn, C.F. -- Bardet-Biedl syndrome and Usher syndrome / Koenig, R. -- Genetic defects in vitamin A metabolism of the retinal pigment epithelium / Thompson, D.A., Gal, A. -- Genetics of macular dystrophies and implications for age-related macular degeneration / Klaver, C.C.W., Allikmets, R. -- Genetics of color vision deficiencies / Deeb, S.S., Kohl, S. -- Gene therapy and animal models for retinal disease / Dejneka, N.S., Rex, T.S., Bennett, J. -- Support for patients loosing [sic] sight / Trauzettel-Klosinski, S., Hahn, G.0A. - Author index -- Subject index.Also available: Print – 2003
- 2012 SpringerSuhre, Karsten.
- 2005 SpringerMauricio, Rodney.
- 2007Postma, D. S.; Weiss, Scott T.
- 2013 SpringerSrivastava, Sheela.Described as the earliest, simplest life forms, with unlimited metabolic versatility, bacteria are ideally suited to answer some very fundamental questions on life and its processes. They have been employed in almost all fields of biological studies, including Genetics. The whole edifice of science of Genetics centers around three processes: the generation, expression, and transmission of biological variation, and bacteria offer immediate advantages in studying all the three aspects of heredity. Being haploid and structurally simple, it becomes easy to isolate mutations of various kinds and relate them to a function. The availability of such mutants and their detailed genetic and biochemical analyses lead to a gamut of information on gene expression and its regulation. While studying the transmission of biological variation, it is clear that unlike their eukaryotic counterpart, a more genetic approach needs to be employed. Transmission of genetic information in most eukaryotic organisms rests on sexual reproduction that allows the generation of genetically variable offspring through the process of gene recombination. Even though bacteria show an apparent preference for asexual reproduction, they too have evolved mechanisms to trade their genetic material. In fact, bacteria not only could acquire many genes from close relatives, but also from entirely distant members through the process of horizontal gene transfer. Their success story of long evolutionary existence will stand testimony to these mechanisms. While teaching a course on Microbial Genetics to the post-graduate students at Delhi University, it was realized that a book devoted to bacterial genetics may be very handy to the students, researchers, and teachers alike. A strong foundation in genetics also helps in comprehending more modern concepts of molecular biology and recombinant DNA technology, always a favorite with the students and researchers. Planning the format of the book, emphasis has been laid on the generation and transmission of biological variability. The omission of expression part is indeed intentional because lots of information is available on this aspect in any modern biology book. The contents are spread over seven chapters and the text is supported with figures/tables wherever possible. The endeavor has been to induce the readers to appreciate the strength of bacterial genetics and realize the contribution of these tiny organisms to the growth of biological sciences as a whole and genetics in particular.
- 2013Thakker, R. V.This book identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder. Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles. Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease. Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays. For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.
- 2009 SpringerLindor, Noralane M.; Potter, John D.
- 2014 ScienceDirectSteinlein, Ortrud K.
- 2007 SpringerCarrell, Douglas T.The genetics of male infertility in the era of genomics: tools for progress / Douglas T. Carrell -- The use of cDNA libraries to demonstrate a linkage between transcription and translation in male germ cells / Norman B. Hecht -- Considerations when using array technologies for male factor assessment / Adrian E Platts, David J. Dix, and Stephen A. Krawetz -- Microarray analysis of a large number of single-nucleotide polymorphisms in individual human spermatozoa / Honghua Li ... [et al.] -- Physiological and proteomic approaches to understand human sperm function: prefertilization events / Sarah J. Conner -- Genetics of idiopathic male infertility: the power of a cross-species approach / Angshumoy Roy, Yi-Nan Lin, and Martin M. Matzuk -- The immunocytogenetics of human male meiosis: a progress report / Daniel Topping, Petrice Brown, and Terry Hassold -- The clinical relevance of sperm aneuploidy / Renee H. Martin -- DNA repair genes and genomic instability in severe male factor infertility / Francesca K.E. Gordon and Dolores J. Lamb -- Germ cell-specific genes and posttranscriptional regulation in the testis / Mark S. Fox and Renee A. Reijo Pera -- The genetics of cryptorchidism / Alexander I. Agoulnik and Shu Feng -- The chromatoid body and microRNA pathways in male germ cells / Martti Parvinen ... [et al.] -- Sperm maturation in the epididymis: role of segment-specific microenvironments / Gail A. Cornwall and Hans H. von Horsten -- The structure of the Y chromosome in infertility / Leslie Ayensu-Coker, Collin Bishop, and Jan Rohozinski -- Y chromosome microdeletions and haplotypes / Ken McElreavey ... [et al.] -- The genetics of male infertility: from bench to clinic / David M. de Kretser ... [et al.] -- The future of the diagnosis of male (in)fertility / Christopher De Jonge -- Polymorphisms and male infertility / Csilla Krausz -- The genetics of abnormal protamine expression / Vincent W. Aoki and Douglas T. Carrell -- Chromatin damage and male infertility / Denny Sakkas, Davide Bizzaro, and Gian C. Manicardi -- Clinical evaluation of the genetics of male infertility / Peter N. Schlegel.
- Genetics of mental retardation : an overview encompassing learning disability and intellectual disability2010 KargerKnight, Samantha J. L.A parent's perspective / Gregory, J.P. -- Mental retardation : definition, classification, and etiology / Regan, R., Willatt, L. -- Technological advances in the molecular cytogenetic diagnosis of mental retardation : telomere testing and genome-wide array analysis / Kaminsky, E.B., Martin, C.L -- The importance of genome architecture in mental retardation / Mefford, H.C -- The clinical evaluation of patients with mental retardation/intellectual disability / Romano, C. -- Database aids for the evaluation of mental retardation / Firth, H.V. Carter, N.P. -- 3D shape and molecular analyses of facial dysmorphology associated with cognitive impairment / Hammond, P., Tassabehji, M. -- Monogenic causes of mental retardation / Raymond, F.L. -- Newly recognized mental retardation microdeletion/duplication syndromes -- Koolen, D.A., de Vries, B.B.A. -- Mendelian CNVs causing mental retardation and developmental disorders -- Vermeesch, J.R., de Ravel, T.J.L. -- Genetic overlaps in mental retardation, autism, and schizophrenia / Kooy, R.F. ... [et al.] -- Chromosome 22q13 rearrangements causing global developmental delay and autistic spectrum Disorder / Bonaglia, M.C. ... [et al.] -- Translating genetics research into a national health service clinical diagnostic environment / Taylor, J.
- 2003 ScienceDirectPulst, Stefan-M.
- 2014 SpringerGrant, Struan F. A.In the past four years, many genetic loci have been implicated for BMI from the outcomes of genome-wide association studies (GWAS), primarily in adults. Insulin-induced gene 2 (INSIG2) was the first locus to be reported by this method to have a role in obesity, but replication attempts have yielded inconsistent outcomes. The identification of the second locus, the fat mass- and obesity-associated gene (FTO), has been more robustly observed by others. Studies from both FTO knock out and FTO over expression mouse model support the fact that FTO is directly involved in the regulation of energy intake and metabolism in mice, where the lack of FTO expression leads to leanness while enhanced expression of FTO leads to obesity. Along with numerous other studies, a number of genetic variants have been established robustly in the context of obesity, giving us fresh insights into the pathogenesis of the disease. This book provides a comprehensive overview of efforts aimed at uncovering genetic variants associated with obesity, which have been particularly successful in the past 5 years with the advent of genome-wide association studies (GWAS). The Genetics of Obesity covers this state of the art technology and its application to obesity in great detail. Topics include genetics of childhood obesity, genetics of syndromic obesity, copy number variants and extreme obesity, co-morbidities of obesity genetics, and functional follow-up of genetic variants.
- 2007Candille, Sophie Isabelle.
- 2008McGowan, Kelly Ann.
- 2009/2010Anderson, Matthew Zack.
- 2007Hickey, G. I.; Fletcher, H.; Winter, P.
- Genital cutting : protecting children from medical, cultural, and religious infringements; proceedings of the 11th International Symposium on Circumcision, Genital Integrity, and Human Rights, 29-31 July 2010, University of California-Berkeley2013 SpringerDenniston, George C.; Hodges, Frederick Mansfield; Milos, Marilyn Fayre.Tortured Bodies, Tortured Doctrines: Informed Consent as a Legal Fiction Inapplicable to Neonatal Male Circumcision -- Routine Infant Circumcision: Vital Issues that the Circumcision Proponents may be Overlooking -- The Smart Penis -- The Harm of Circumcision -- Evolution of Circumcision Methods: Not "Just a Snip" -- Penile Wounding: Complications of Routine Male Circumcision in a Typical American Family Practice -- Male Circumcision and the Potential for Unexplained Male Adolescent Suicide in Northern Ireland -- Healing the Harms of Circumcision: A Nursing Case Study -- Ten Years of Training: Family Medicine Residents as Conscientious Objectors to Circumcision -- Intersex Surgeries, Circumcision, and the Making of "Normal" -- Intersex Genital Autonomy: A Rights-Based Framework for Medical Intervention with Intersex Infants -- The SAR/ROHAN (The Possession): A Response of Somali Women to Pharaonic Circumcision/Infibulation (PhC) -- Genital Stretching Among the Venda Ethnic Group (South Africa) -- Male Circumcision Among the Venda of Limpopo (South Africa) -- Critique of African RCTs into Male Circumcision and HIV Sexual Transmission -- Randomized Controlled Trials for HIV/AIDS Prevention Among Men in Africa: Untraced Infections, Unasked Questions, and Unreported Data -- Dangerous Myths and Tragic Misconceptions: Fighting HIV and AIDS Cases in Africa with Male Circumcision Strategies -- Defying the Enlightenment: Jewish Ethnicity and Ethnic Circumcision -- Circumcision: Gender and Power -- Reclaiming Circumcision: Armenian Stories -- Self-Made Intactivism in the Middle East -- Genital Autonomy: A New Approach.
- 1982-Paulson, David F.
- 2015 SpringerHarisinghani, Mukesh G.; Rajesh, Arumugam.Covering all modalities currently used as well as emerging novel imaging tools, each chapter covers an aspect of Genitourinary Imaging with a comprehensive coverage of subspeciatlies. Genitourinary Imaging - A Case Based Approach closely mimics day to day clinical practice, and allows retention of pertinent practice information in an easy to understand format. Providing Genitourinary specific content in a portable form that can be used in close proximity to the PACS workstation, Genitourinary Imaging - A Case Based Approach is the perfect book for residents both in training and practicing as well as genitourinary radiologists worldwide.
- 2007 ClinicalKeyZagoria, Ronald J.; Fielding, Julia R.; Mayo-Smith, William W.; Zagoria, Ronald J.This title provides an excellent case selection for sharpening diagnostic skills in this challenging subspecialty area. Emphasis is on differential diagnoses and pertinent radiological findings, but the relevant clinical points are also covered. This second edition contains numerous new images (more than 400 total images) as well as an addition of fifty cases. It is cross-referenced to GU RADIOLOGY: The Requisites, 2e. Volume in the Case Review series, covering brain imaging, targeted towards residents, fellows and practicing RadiologistsMimics official exam formats and daily practice environment with a pedagogically anchored format that introduces cases/images as unknowns with three to four questions; then, on the flip side of the page, diagnosis, answers to the questions, additional commentary, references and cross-references to The Requisites volume are supplied in logical succession; blank space is available for note taking. Cases are randomly organized and then divided into three overall categories reflecting three different levels of difficulty.
- Zagoria, Ronald J.
- 2016 ClinicalKeyKawamoto, Satomi; Macura, Katarzyna J.
- Chopra, Shailendra.
- 2016 ClinicalKeyZagoria, Ronald J.; Brady, Christopher; Dyer, Ray.An introduction to radiologic methods -- The kidney and retroperitoneum : anatomy and congenital abnormalities / Raymond Dyer -- Renal masses / Ronald Zagoria -- The kidney : the diffuse parenchymal abnormality / Raymond Dyer -- The renal sinus, pelvocalyceal system, and ureter / Ronald Zagoria -- The lower urinary tract / Christopher Brady -- The female genital tract / Christopher Brady -- The male genital tract / Raymond Dyer -- Imaging of the adrenal glands / Christopher Brady -- Interventional genitourinary radiology / Ronald Zagoria.
- 2008 SpringerPotts, Jeannette M.
- 2015 SpringerMagi-Galluzzi, Cristina; Przybycin, Christopher G.This book provides a comprehensive, state-of-the art review of the genitourinary tumor pathology field and the most contemporary insights regarding specimen submission, histologic morphology, immunohistochemistry, and molecular studies useful in the diagnosis of genitourinary neoplasms. Discussion of the clinical implications of pathological findings is contributed by renowned clinicians in the field. This handsome volume guides the reader through the intricacies of genitourinary tumor pathology, diagnosis, reporting, and prognosis. Written by experts in the field, Genitourinary Pathology: Practical Advances is of great value to anatomic pathologists, urologists, fellows in genitourinary pathology, as well as upper level residents training in pathology .
- 2015 ClinicalKeyMagi-Galluzzi, Cristina; Zhou, Ming.Nonneoplastic diseases of the prostate / Kiril Trpkov -- Neoplastic diseases of the prostate / Ming Zhou, Cristina Magi-Galluzzi -- Nonneoplastic diseases of the urinary bladder / Fang-Ming Deng, Jonathan Melamed -- Neoplasms of the urinary bladder / Jesse K. McKenney, Ming Zhou, Cristina Magi-Galluzzi -- Nonneoplastic diseases of the kidney / Stephen M. Bonsib -- Neoplasms of the kidney / Ming Zhou, Eyas M. Hattab, John N. Eble, Liang Cheng -- Introduction to renal biopsy / Laura Barisoni, Lois J. Arend, David B. Thomas -- Diseases of the ureter and renal pelvis / Ximing J. Yang -- Diseases of penis, urethra, and scrotum / Rajal B. Shah -- Nonneoplastic diseases of the testis / Cristina Magi-Galluzzi, Howard S. Levin -- Neoplasms of the testis / Charles C. Guo.
- 2007 ClinicalKeyMagi-Galluzzi, Cristina; Zhou, Ming.This volume in the Foundations in Diagnostic Pathology Series packs today's most essential genitourinary pathology know-how into a compact, high-yield format! Its pragmatic, well-organized approach, abundant full-color illustrations, and at-a-glance tables make the information you need easy to access. It covers both neoplastic and non-neoplastic diseases of the genitourinary system. Reviews normal histology before examining abnormal findings. Covers all of the most commonly seen neoplastic and non-neoplastic conditions of the genitourinary system. Uses a consistent, user-friendly format to explore each entity's clinical features pathologic features (gross and microscopic) ancillary studies differential diagnoses and prognostic and therapeutic considerations. Offers hundreds of full-color illustrations that demonstrate the key features of a wide variety of pathologic lesions.
- 2013 SpringerDogra, Vikram; MacLennan, Gregory T.1. Renal Neoplasms / Gregory T. MacLennan -- 2. Inflammatory Conditions of the Kidney / Gregory T. MacLennan -- 3. Cystic Diseases of the Kidney / Gregory T. MacLennan -- 4. Renal Calculus Disease / Can Zafer Karaman -- 5. Vascular Disorders of the Kidney / Gregory T. MacLennan -- 6. Medical Renal Disease and Transplantation Considerations / Gregory T. MacLennan -- 7. Non-neoplastic Disorders of the Renal Pelvis and Ureter / Gregory T. MacLennan -- 8. Neoplasms of the Renal Pelvis and Ureter / Gregory T. MacLennan -- 9. Renal and Ureteral Trauma / Vikram S. Dogra -- 10. Nonneoplastic Disorders of the Bladder / Gregory T. MacLennan -- 11. Neoplasms of the Bladder / Gregory T. MacLennan -- 12. Bladder Trauma / Musturay Karcaaltincaba -- 13. Congenital and Acquired Nonneoplastic Disorders of the Urethra / Gregory T. MacLennan -- 14. Neoplasms of the Urethra / Gregory T. MacLennan.
- 2013 SpringerDogra, Vikram; MacLennan, Gregory T.Contrast Materials and Contrast Reaction Management -- Congenital and Acquired Nonneoplastic Disorders of the Prostate and Seminal Vesicles -- Neoplasms of the Prostate and Seminal Vesicles -- Congenital and Acquired Nonneoplastic Disorders of the Spermatic Cord and Testicular Adnexae -- Neoplasms of the Spermatic Cord and Testicular Adnexae -- Congenital and Acquired Nonneoplastic Disorders of the Testis -- Neoplasms of the Testis -- Congenital and Acquired Nonneoplastic Disorders of the Penis and Scrotum -- Neoplasms of the Penis and Scrotum -- Congenital and Acquired Nonneoplastic Adrenal Diseases -- Adrenal Neoplasms -- Congenital and Acquired Nonneoplastic Retroperitoneal Disorders -- Retroperitoneal Neoplasms -- Imaging of Urinary Diversion and Neobladder.
- v. 1-4, 1997-99.Birren, Bruce W.v. 1. Analyzing DNA -- v. 2. Detecting genes -- v. 3. Cloning systems -- v. 4. Mapping genomes.
- 2006. KargerVolff, Jean-Nicolas.The genomic basis of disease, mechanisms and assays for genomic disorders / P. Stankiewicz, J.R. Lupski -- Gross deletions and translocations in human genetic disease / S.S. Abeysinghe, N. Chuzhanova, D.N. Cooper -- Nucleotide excision repair and related human diseases / V. Bergoglio, T. Magnaldo -- Oxidative damage to DNA in non-malignant disease / M.D. Evans, M.S. Cooke -- Dominant non-coding repeat expansions in human disease / K.A. Dick ... [et al.] -- Telomeres and telomerase in stem cells during aging and disease / Z. Ju, K.L. Rudolph -- Retrotransposable elements and human disease / P.A. Callinan, M.A. Batzer -- The spindle checkpoint and chromosomal stability / W. Qi, H. Yu -- Protein kinases that regulate chromosome stability and their downstream targets / H. Nojima -- The role of the APC tumor suppressor in chromosomal instability / P. Alberici, R. Fodde -- c-Myc, genomic instability, and disease -- F. Kuttler, S. Mai -- Nijmegen breakage syndrome and functions of the responsible protein, NBS1 / A. Antoccia ... [et al.] -- Werner syndrome, aging, and cancer / A. Ozgenc, L.A. Loeb -- Fanconi anemia / R. Kalb ... [et al.].
- v. 1-, 2007- Springer
- 2005 SpringerNigg, Erich A.Also available: Print – 2005
- 2007 SpringerLankenau, Dirk-Henner.From microorganisms to humans, this volume provides an interdisciplinary overview of how genome integrity is maintained. It begins with DNA replication and continues with replicative DNA repair and pleiotropic protein interactions. It also reviews the cellular responses to radiation and genotoxic stress affecting whole genomes.
- 2011Markova-Raina, Penka Vassileva; Batzoglou, Serafim; Feldman, Marcus W.; Petrov, Dmitri A.Recent advances in technology have unleashed a breathtaking amount of genome sequence data. My doctoral research builds on the resulting opportunities of whole genome sequence data and analysis in a quest for gaining new insights into molecular evolution, and in particular molecular evolution and adaptation of proteins. Chapter One of my dissertation is focused on methodology, specifically the impact that the choice of multiple sequence alignment procedure has on the inference of positive selection. I find that selection inference is highly dependent on the choice of alignment procedure. Furthermore, in the case of the 12 Drosophila genomes proteins and commonly used alignment programs, most of the inferences are false positives, caused by misaligned codons. These results put into question the reliability of some of the previously reported conclusions on adaptation in these proteins, as well as in similar studies of other species. The second chapter relates these alignment errors to specific regions in the proteins, the so-called intrinsically disordered protein regions. Disordered protein regions do not have a stable fold in native physiological conditions, and therefore do not fit the standard assumptions made in codon-based evolutionary analyses about structure and folding constraints. My findings indicate that in the case of the false-positively inferred positively selected sites, as well as in general throughout the alignments, most alignment errors and ambiguities originate in disordered regions. Indels in the alignments also appear predominantly in those regions. Examination of widely used alignment benchmarks indicates that disordered regions have mostly been excluded from the benchmarks. I discuss implications of these findings for both evolutionary research and development of alignment software. The last chapter of my dissertation characterizes the evolution of disordered regions in Drosophila. I survey protein substitution and polymorphism patterns in D. melanogaster and D. simulans, and find that relative to structured regions, disordered ones have multiple-fold higher rates of replacement polymorphisms and substitutions, as well as fewer rare polymorphisms. Structured regions appear to be significantly more impacted by both positive and purifying selection, contrary to indications from previous reports where within-species data was not incorporated in the analysis.
- 2009 SpringerKole, Chittaranjan; Nene, Vishvanath.
- 2008 SpringerHunter, Wayne; Kole, Chittaranjan.Honeybee / D. Schlipalius, P.R. Ebert, G.J. Hunt -- Bumblebee / L. Wilfert, P. Schmid-Hempel, J. Gadau -- The jewel wasp - Nasonia / J. Gadau ... [et al.] -- Silkworm / Y. Yasukochi, H. Fujii, M.R. Goldsmith -- Pea aphid / J.A. Brisson, G.K. Davis -- Mosquito / D.W. Severson -- Hessian fly / J.J. Stuart, M.-S. Chen, M.O. Harris -- Tick / A.J. Ullmann, J.J. Stuart, C.A. Hill.
- 2008 SpringerKocher, Thomas D.; Kole, Chittaranjan.
- 2012 SpringerDenny, Paul; Kole, Chittaranjan.Genomics in the sea urchin : new perspectives on a perennial model system / Katherine M. Buckley amd Jonathan P. Rast -- Genome mapping and genomics of Caenorhabditis elegans / Jonathan Hodgkin, Michael Paulini, and mary Ann Tuli -- Genome mapping and genomics in Drosophila / Boris Adryan and Steven Russell -- Genome structure, functional genomics, and proteomics in ascidians / Yasunori Sasakura, Nicolas Sierro, Kenta Nakai, Kazuo Inaba, and takehiro G. Kusakabe -- Punching above their weight : the compact genomes of pufferfishes / Brian Cusack and Hugues Roest Crollius -- Medaka genomics and the methods and resources for decoding genomic functions / Tetsuaki Kimura, Yasuhiro Kamei, Yusuke Takehana, Takao Sasado, and Kiyoshi Naruse -- Xenopus genomics and genetics : progress and prospects / Amy K. Sater and Michael J. Gilchrist -- Mouse genome mapping and genomics / Paul Denny -- Rat genome mapping and genetics / Claude Szpirer and Göran Levan.
- 2003 Cold Spring Harb Lab PressSU Catalog (SearchWorks) Click LINK above for Print location/circulation status.Stewart, David J.; Stillman, Bruce.Human genome sequence -- Human genetic variation -- Genome structure and evolution -- Genomics of non-human species -- Bioinformatics and annotation -- Comparing genomes -- Comparative functional genomics -- Genetic variation and disease -- Genome biology and disease -- Human evolution.
- 2010 SpringerNasheuer, Heinz Peter.Coming full circle: Cyclin-dependent kinases as anti-cancer drug targets / R.P. Fisher -- Core and linker histone modifications involved in the DNA damage response / J.E. Chubb and S. Rea -- Chromatin assembly and signalling the end of DNA repair requires acetylation of histone H3 on lysine 56 / T. Costelloe and N.F. Lowndes -- Structure and function of histone H2AX / D.M. Pinto and A. Flaus -- The initiation step of eukaryotic DNA replication / H. Pospiech, F. Grosse and F.M. Pisani -- Non-coding RNAs: New players in the field of eukaryotic DNA replication / T. Krude -- Function of TopBP1 in Genome Stability / M. Sokka ... [et al.] -- Eukaryotic single-stranded DNA binding proteins: central factors in genome stability / S. Broderick ... [et al.] -- DNA polymerases and mutagenesis in human cancers / E. Crespan, A. Amoroso and G. Maga -- DNA polymerase [eta], a key protein in translesion synthesis in human cells / S. Cruet-Hennequart ... [et al.] -- The mitochondrial DNA polymerase in health and disease / W.C. Copeland -- Centromeres: assembling and propagating epigenetic function / M. Glynn ... [et al.] -- Nucleotide excision repair in higher eukaryotes: mechanism of primary damage recognition in global genome repair / N.I. Rechkunova and O.I. Lavrik -- Nonhomologous DNA end joining (NHEJ) and chromosomal translocations in humans / M.R. Lieber ... [et al.] -- Fluorescence-based quantification of pathway-specific DNA double-strand break repair activities: a powerful method for the analysis of genome destabilizing mechanisms / M. Bohringer and L. Wiesmuller -- Apoptosis: a way to maintain healthy individuals / C. Mondello and A.I. Scovassi -- The use of transgenic mice in cancer and genome stability research / S. Conmy and H.P. Nasheuer.
- 2007Brown, T. A.Genomes, transcriptomes, and proteomes -- Studying DNA -- Mapping genomes -- Sequencing genomes -- Understanding a genome sequence -- Understanding how a genome functions -- Eukaryotic nuclear genomes -- Genomes of prokaryotes and eukaryotic organelles -- Virus genomes and mobile genetic elements -- Accessing the genome -- Assembly of the transcription initiation comple -- Synthesis and processing of RNA -- Synthesis and processing of the proteome -- Regulation of genome activity -- Genome replication -- Mutations and DNA repair -- Recombination -- How genomes evolve -- Molecular phylogenetics.
- 2005 SpringerNewton, William E.; Palacios, Rafael.
- 2002 NCBI BookshelfBrown, T. A.
- 2006Saxonov, Serge.
- 2009/2010Brunner, Alayne Lisette.
- 2005/2006Rubins, Kathleen Hallisey.
- 2013 Springer ProtocolsGondro, Cedric; Hayes, Ben; Werf, Julius van der."With the detailed genomic information that is now becoming available, we have a plethora of data that allows researchers to address questions in a variety of areas. Genome-wide association studies (GWAS) have become a vital approach to identify candidate regions associated with complex diseases in human medicine, production traits in agriculture, and variation in wild populations. Genomic prediction goes a step further, attempting to predict phenotypic variation in these traits from genomic information. Genome-Wide Association Studies and Genomic Prediction pulls together expert contributions to address this important area of study. The volume begins with a section covering the phenotypes of interest as well as design issues for GWAS, then moves on to discuss efficient computational methods to store and handle large datasets, quality control measures, phasing, haplotype inference, and imputation. Later chapters deal with statistical approaches to data analysis where the experimental objective is either to confirm the biology by identifying genomic regions associated to a trait or to use the data to make genomic predictions about a future phenotypic outcome (e.g. predict onset of disease). As part of the Methods in Molecular Biology series, chapters provide helpful, real-world implementation advice."--Back cover
- Genome-wide functional genomic analysis for physiological investigation and improvement of cell-free protein synthesis2011Airen, Isoken Omosefe; Covert, Markus; Spormann, Alfred M.; Swartz, James R.We set out to develop and apply a high-throughput cell-free protein synthesis (CFPS) platform that provides functional genomics information for a wide variety of open reading frames (ORFs). We then used this information to improve CFPS yields by 4- to 5-fold, depending on the protein product. With the increasing number of completed genome sequences and ongoing sequencing projects, the post-genomic era has ushered in the promise of complete understanding of biological systems. For such a task, the most important set of information is inarguably the knowledge of the function of each gene product. To lead this endeavor of discerning the properties and functions of the entirety of an organism's genes and gene products, the field of functional genomics has emerged. Functional genomics focuses on dynamic cellular aspects, such as gene transcription, translation, and protein-protein interactions, in attempts to understand the relationship between an organism's genome and its phenotype. Thus, the ultimate goal of such studies is to provide a more complete picture of how biological function arises from the hereditary information of a living system. However, despite this clear interest in analyzing the expression and function of gene products, the development of techniques to address the high-throughput needs of functional genomics has been challenging, given the large diversity of protein functions and physiochemical properties, such as molecular weight and hydrophobicity, as well as the varying expression levels of proteins within a cell. In light of these challenges, we developed a sequential CFPS platform, which is capable of characterizing a variety of diverse proteins in the context of the dynamic metabolic networks that exist in vivo. The first round of expression is directed by PCR-generated expression templates (ETs) and creates an array of cell extracts that are individually enriched with a single target gene product. This round of CFPS is terminated by the selective degradation of the linear DNA templates, and a subsequent round of protein expression is initiated by the addition of a plasmid ET for a reporter protein. The array is then screened to identify gene products that enhanced or inhibited the expression and folding of the reporter. With such a method, we expect that the observations will expand our knowledge of both cell-free and in vivo metabolism, as well as identify key factors and reactions that could potentially lead to improved in vitro transcription, translation and protein folding. CFPS systems offer attractive alternatives to conventional fermentation processes used for protein production. Although improvements in CFPS energetics and reaction conditions have greatly enhanced in vitro protein synthesis, we believe that there are still other issues limiting the productivity of the technology. For this reason, identifying targets that could further improve CFPS is desirable. To validate the developed sequential CFPS protocol, we conducted a genome-wide survey of the well-studied bacterium Escherichia coli (E. coli) to identify soluble gene products that influence the in vitro metabolism. With this method, we identified 139 gene products (79 positive and 60 negative effectors) that influenced the cell-free transcription, translation, and protein folding of our three reporter proteins, as well as the energy metabolism and RNA and protein stability in the CFPS system. Encouragingly, most of the observed effects were consistent with the accepted in vivo metabolic functions of the gene products. However, many were not and required subsequent assays and in-depth literature searches to suggest hypotheses for the in vitro activities of the identified gene products. In many cases, the observations illuminated principles and influences that are unknown, lesser known, or secondary functions that were not expected to influence the CFPS performance. The information from the genome-wide survey was then used to guide modifications of the CFPS system to improve the productivity and duration of in vitro protein synthesis, as well as the efficiency of protein folding. First, fifteen positive effectors were produced and supplemented into the expression reactions in various combinations of the effectors in order to identify cooperative interactions that further enhance system performance. Next, we constructed and evaluated four mutant E. coli strains with chromosomal deletions in non-essential genes that encode negative effectors identified by the genomic survey. We also re-optimized the small molecule metabolite environment in the CFPS reactions. Thus, in the improved in vitro expression system, energy generation, translation initiation and elongation, and protein folding were enhanced; the reaction pH was stabilized; the supplies of specific molecular substrates that are essential for protein synthesis were replenished; and mRNA transcripts were stabilized. With this new system, the total, soluble, and active yields of the several diverse proteins were enhanced by 300 to 400%. The functional genomic analysis of E. coli has greatly broadened our understanding of the biology of the organism. And with the use of species-independent translational leaders that can facilitate cell-free expression (Mureev et al., 2009), our sequential CFPS platform can be used for similar genome-wide surveys of most organisms. In this way, the vast wealth of information available in the sequenced genomes will be utilized, and our knowledge of these biological systems will be significantly improved. Furthermore, the forward, or targeted, metabolic engineering strategy that was used to enhance our CFPS system can be applied to the development and/or improvement of most organism-based in vitro protein expression platforms. These targeted metabolic changes will lead to more rapid and more significant enhancements than traditional improvement strategies, as well as bring us closer to a complete understanding of the biological systems.
- 2013 SpringerMuley, Vijaykumar Yogesh; Acharya, Vishal.Introduction -- From genomes to protein functions -- Co-evolutionary signals within genome sequences reflect functional dependence of proteins -- Chromosomal proximity of genes as an indicator of functional linkage -- Analyses of complex genome-scale biological networks -- Application of protein interaction networks.
- 2012Wan, Yue; Chang, Howard Y.; Fire, Andrew Z.; Sarnow, P.; Sherlock, Gavin.RNA plays an important role in regulating cellular gene expression. Its ability to fold into secondary and tertiary structures underlies the RNA's ability to function and be processed in every step of its life cycle, including transcription, splicing, cellular localization, translation and turnover of the RNA. However, structural information for most RNAs in the cells, such as mRNAs, is missing due to the low throughput nature of RNA structure probing and the traditional difficulty of probing long RNAs, making it difficult to assess the full impact of RNA structure in biology. To fulfill the need to understand the roles of RNA structure on a global scale, we developed for the first time a novel strategy termed Parallel Analysis of RNA Structure (PARS), which couples structure-specific probing to high throughput sequencing to simultaneously generate secondary structures for thousands of RNA species at single nucleotide resolution. Applying PARS to the yeast transcriptome identified distinct structural organization of mRNAs, including a three nucleotide periodicity in the coding region and increased accessibility near the start codon for translation. Furthermore, we demonstrated that PARS can be used to study dynamics by probing the yeast transcriptome across a temperature gradient to identify functional structural regions that have differential propensity to melt. PARS can be readily applied to different organisms and conditions, to identify structural determinants that regulate gene expression changes across organisms in different cellular states. This expansion of RNA structural data will likely enhance our understanding of how RNA structure translates into RNA function in cellular systems, as well as open doors to potentially targeting these structural elements to regulate cellular behavior in diseases.
- Genome-wide siRNA screen identifies a novel, 7 transmembrane protein that mediates amino acid signaling to mTORC12013Gan, Lin; Brunet, Anne; Ferrell, James Ellsworth; Meyer, Tobias.Cells have an evolutionarily conserved mechanism to sense and integrate nutrient information for optimal growth and survival. The signaling network that is central to receiving nutritional inputs and translating them to effects on anabolic and catabolic activities of the cell consists of a large serine/threonine kinase known as mTOR. mTOR signaling is crucial for many important cellular processes such metabolism, growth, proliferation and differentiation. It is able to integrate diverse inputs including growth factors, cytokines, energy, oxygen and stress in addition to nutrients and regulate diverse outputs including translation, ribosome biogenesis, lipid biogenesis and autophagy. It is also an important therapeutic target and its inhibitor Rapamycin is currently being used or tested for a wide range of diseases including cancers and neurodegenerative diseases. Amino acids are arguably the most important regulators of mTOR and a long standing mystery in the field is the identity of the amino acid sensor and the mechanism of sensing. Using RNAi, we systematically screened through the human genome for candidate genes regulating amino acid signaling. We confirm that the mitochondria and the lysosomes are the two key sensing organelles, with amino acid metabolism and the RagGTPases being important for signal transduction. We identify a novel lysosomal 7 transmembrane protein that mediates signals upstream the RagGTPases and binds mTORC1-RagA in an amino-acid dependent manner. We also demonstrate that increasing levels of this protein enables cells to recruit mTOR to lysosomes and activate its kinase activity in the absence of amino acids. We show that GPR137B, mTORC1 and RagA form an amino acid sensitive, high-affinity binding complex at the lysosome. We propose a model of sensing where the 7-transmembrane protein, which we renamed to MORTOR, forms a tight complex with mTORC1-RagA in the presence of amino acids, resulting in the persistent lysosomal recruitment and activation of mTORC1. In addition to identifying novel regulators, this systematic study has also generated testable hypotheses about systems level properties of mTORC1 signaling, thus providing the foundation to understand mTOR signaling as a network. The discovery of the novel 7 transmembrane protein and its GPCR-like characteristics also has the potential to lead to new classes of therapeutics and targets for this important pathway.
- Genome-wide siRNA screen reveals diverse cellular processes and pathways that mediate genomic stability2010Paulsen, Renee Darlene; Cimprich, Karlene; Meyer, Tobias; Wang, Clifford; Wysocka, Joanna.Genome instability has long been known to be a hallmark of cancerous cells, but the cellular causes and consequences of such instability are still not fully understood. Mutations, translocations, DNA rearrangements, as well as chromosomal loss can all result in the loss of genomic integrity. To prevent the disruption of cellular homeostasis due to DNA damage accumulation, cells contain pathways to sense and respond to DNA damage including cell cycle checkpoints and numerous DNA repair processes, collectively known as the DNA damage response (DDR). Mutations in many of the genes involved in the DDR are linked to several diseases, including premature aging, neurodegeneration and cancer. These signaling pathways are especially critical during DNA replication when the DNA is unwound and vulnerable to processing. Here, the cell relies on the S-phase checkpoint to sense DNA damage at the sites of replication forks and to facilitate a number of downstream pathways to maintain genomic stability. These processes include blocking further origin firing, facilitating DNA repair, preventing cell cycle progression, and stabilizing stalled replication forks. Here, two genome-wide siRNA screens were employed to identify additional genes involved in genome stabilization by monitoring phosphorylation of the histone variant H2AX, an early mark of DNA damage. The first screen looked at H2AX phosphorylation that occurred simply by individual protein depletion, and the second screen used a low level of a replication inhibitor, aphidicolin, to specifically identify genes that were needed to prevent DNA damage during S-phase, potentially due to the loss of replication fork stabilization mechanisms. While the results from the second screen are still undergoing further characterization, we did discover hundreds of genes whose down-regulation led to elevated levels of H2AX phosphorylation in the absence of any external stress. From this gene set, we identified many gene networks that were significantly enriched amongst our screening hits as well as several intriguing individual genes that were chosen for follow up study. These included genes involved in mRNA processing, the pathology of Charcot-Marie-Tooth syndrome, and the histone methyl transferase protein, Set8.
- Genomic analysis of Drosophila tracheal organogenesis : identification of a transcriptional target of Trachealess mediating cell adhesion and motility2007Chao, Elizabeth Danhwa.
- 2007/2008Mitiku, Nesanet Senaite.
- Genomic analysis of highly purified astrocytes reveals in vivo astrocyte gene expression : a new resource for understanding astrocyte development and function2007Cahoy, John David.
- Genomic analysis of neuron-restrictive silencer factor activity in neuronal and non-neuronal human cell lines2010Leeper, Evonne Chen; Barsh, Gregory Stefan; Brunet, Anne; Fuller, Margaret T.; Myers, Richard.The neuron-restrictive silencer factor/RE-1 silencing transcription factor (NRSF/REST) is thought to be a negative regulator of neuronal genes in non-neuronal cells. However, evidence of its continued expression and activity in neurons suggests that NRSF may play other roles. A complete knowledge of NRSF target genes in neuronal and non-neuronal cells is the first step to understanding its functions. Using chromatin immunoprecipitation and quantitative PCR, I experimentally tested the occupancy of NRSF in living non-neuronal cells on 113 candidate binding sites predicted on the basis of conservation across the human, mouse, and dog genomes. These tests helped to further refine the prediction algorithm and identified a number of NRSF-bound regulatory microRNAs that may work in a feedforward loop to downregulate NRSF and its co-repressor, CoREST. I next focused on understanding NRSF recruitment in neuron-derived versus non-neuronal cell lines, using chromatin immunoprecipitation paired with ultrahigh-throughput sequencing (ChIP-seq) to get a direct, genome-wide picture of NRSF binding in human neuron-derived and non-neuronal cell lines. I found a large overlap in the NRSF binding pattern between the two cell types, particularly in binding sites found to be strongly or commonly bound. There is a subset of strong sites bound in all cell types, and weaker sites that are more likely to be cell-type specific. These common sites contain the canonical NRSE while the cell line unique sites do not. Finally, I used another ultrahigh-throughput sequencing based method to catalog and quantify all mRNA transcripts in each of the cell lines (RNA-seq) to add target gene expression to the analysis of NRSF function. Common target genes were more likely to be highly expressed in the neuron-derived cell line than in non-neuronal cell lines despite NRSF binding in both. I also found that the neuron-specific binding sites were primarily located in exons and promoters, while common or non-neuronal specific binding sites were primarily located in introns and intergenic regions. Differences in binding strength and target gene expression levels suggest that NRSF has different binding mechanisms and functions in neuron-derived and non-neuronal human cell lines.
- 2009Bocanegra, Melanie C.
- 2013 ClinicalKeyGinsburg, Geoffrey S.; Willard, Huntington F.This two-volume set provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. The inclusion of the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more presents this book as an essential tool for both students and specialists across many biological and medical disciplines, including human genetics and genomics, oncology, neuroscience, cardiology, infectious disease, molecular medicine, and biomedical science, as well as health policy disciplines focusing on ethical, legal, regulatory and economic aspects of genomics and medicine. Volume One Includes: Principles, Methodology and Translational Approaches, takes readers on the journey from principles of human genomics to technology, informatic and computational platforms for genomic medicine, as well as strategies for translating genomic discoveries into advances in personalized clinical care. Volume Two Includes: Genome Discoveries and Clinical Applications presents the latest developments in disease-based genomic and personalized medicine. With chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, this work provides the most comprehensive guide to the principles and practice of genomic and personalized medicine. * Contributions from leaders in the field provide unparalleled insight into current technologies and applications in clinical medicine. * Full colour throughout enhances the utility of this work as the only available comprehensive reference for genomic and personalized medicine. * Discusses scientific foundations and practical applications of new discoveries, as well as ethical, legal/regulatory, and social issues related to the practice of genomic medicine.
- 2009 ScienceDirectGinsburg, Geoffrey S.; Willard, Huntington F.v. 1. Principles, methodology, and translational approaches -- v. 2. Genome discoveries and clinical applications.
- Genomic and regulatory network diversity revealed by REST/NRSF, maltase glucoamylase and the protocadherin gene cluster2010Garcia, Sarah Theresa Kerfoot; Barsh, Gregory Stefan; Brunet, Anne; Myers, Richard; Stearns, Tim.This thesis details the experimentation on three gene/gene families: the RE1-silencing transcription factor also known as neuron-restrictive silencer factor (REST/NRSF), a repressor of neuronal genes; maltase-glucoamylase (MGAM), the intestinal enzyme responsible for the breakdown of starch; and the neuronally expressed protocadherin gene family of unknown function (PCDH). The research I have completed is tied together by the fundamental question: how is diversity achieved? On the evolutionary scale, I have investigated the functional consequences of mutation and how these functional changes may have impacted the evolution of diversity. On the cellular scale, I have sought to understand how diversity is generated by attempting to define the binding networks of proteins important in the determination of cell fate in the case of REST/NRSF and in the determination of specific neuronal identities as the predicted function of the protocadherins. REST/NRSF is canonically known as a master repressor whose function is to establish and maintain the repression of neuronal genes in nonneuronal cells. While a handful of REST/NRSF target genes of neuronal function have been extensively studied, there is little consensus on the entire repertoire of REST/NRSF targets. I participated in the development of a set of software tools for transcription factors with known binding sites which allows the identification and characterization of binding sites and their potential target genes. We identified 660 putative target genes for REST/NRSF and demonstrated that this set is enriched for genes of known neuronal function and that the expression of REST/NRSF is negatively correlated with predicted target gene expression. We validated a large number of potential binding sites and experimentally determined a threshold value which enriches the set of predicted binding sites for true positive sites. Maltase glucoamylase (MGAM) is responsible for starch breakdown and is thought to be especially important in brain development when glucose demand is high. Other components of starch metabolism are known to have common variations which affect function and these high functioning variants are more common in populations with high starch diets. Research in our lab revealed a large, common deletion in the MGAM gene with a high allele frequency in Europeans, a population with comparatively increased starch intake. I mapped the endpoints of this large, common deletion and determined the likely mechanism by which the deletion occurred to be recombination between two highly similar repeats within the MGAM gene. I then demonstrated that the deletion has no gross impact on mRNA structure or expression in heterozygous form and is therefore likely to be a neutral mutation. The protocadherins are a diverse set of neuronally-expressed cell-adhesion-like molecules hypothesized to provide the molecular code necessary for the identification of individual neurons for their incorporation into appropriate neural circuits. I demonstrate that gene conversion events occur and have likely functional effects on protocadherin paralogs, a hypothesis that had only previously been supported by evolutionary evidence. Previous research suggested that endogenous cleavage products of some protocadherins localized to the nucleus and affected gene expression. I verified nuclear localization of the protocadherin paralogs previously published and demonstrated that this nuclear localization is a common feature of all protocadherin paralogs assayed. I found no evidence that the protocadherin fragment was capable of binding to DNA directly or to affect protocadherin expression, but was unable to determine whether this was indicative of a lack of these functions in vivo or a failure of my experimental system to detect them. I conclude that nuclear localization of protocadherin internal fragments is a process common to disparate members of the protocadherin cluster but the functional consequences of this nuclear localization remain unknown.
- 2015 SpringerNetto, George J.; Schrijver, Iris.Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist?s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing. Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.
- Genomic approaches for cross-species extrapolation in toxicology : proceedings from the Workshop on Emerging Molecular and Computational Approaches for Cross-Species Extrapolations, 18-22 July 2004, Portland, Oregon, USA2007 CRCnetBASEBenson, William H.; Di Giulio, Richard T."Omics" approaches in the context of environmental toxicology / Jon C. Cook ... [et al.] -- Selection of surrogate animal species for comparative toxicogenomics / Nancy D. Denslow ... [et al.] -- Species differences in response to toxic substances: shared pathways of toxicity--value and limitations of omics technologies to elucidate mechanism or mode of action / David Eaton ... [et al.] -- Bioinformatic approaches and computational models for data integration and cross-species extrapolation in the postgenomic era / Kenneth S. Ramos ... [et al.] -- The extension of molecular and computational information to risk assessment and regulatory decision making / James S. Bus ... [et al.].
- 2009Chan, Yingguang Frank.
- 2012Kvitek, Daniel Jeffrey; Petrov, Dmitri A.; Sherlock, Gavin; Sidow, Arend; Tang, Hua.Adaptive evolution by natural selection is largely responsible for the variety of forms and functions observable in the natural world. Identifying the genetic changes underlying adaptive evolution of organisms to their environment is of fundamental importance in understanding the history of life, as well as predicting how organisms will evolve to novel environments in the future. Experimental evolution of microbes in the laboratory provides a precisely controlled environment for investigations into the genetic basis of adaptation, while also allowing for large population sizes and experimental replication, benefits that are often not available in natural populations. Recent technologies have enabled the identification of the genetic changes responsible for adaptive evolution genome-wide, giving us a genomic view of adaptation during evolution experiments. Here, I have added to our understanding of the genomic basis of adaptation by investigating how Saccharomyces cerevisiae adapts to limiting glucose environments during experimental evolution. Throughout this work, I utilize next- generation, whole-genome sequencing to identify the mutations responsible for adaptation. In Chapter 1, I investigate how genetic interactions define the fitness landscape, and find that very strong negative epistasis between two beneficial mutations creates a fitness valley, so each mutation effectively determines the evolutionary trajectory of adaptation. In Chapter 2, I take a step back and look more broadly at adaptation while asking the question: is there a general functional theme for the genomic basis of adaptation to limiting glucose? To facilitate answering this question in an unbiased manner, I develop a whole-population, whole-genome sequencing technique, and find that the theme of adaptation in the constant and predictable environment of the glucose-limited chemostat is for the yeast to lose function of signaling networks responsible for sensing environmental stimulus, effectively decoupling environmental sensing from response. In Chapter 3, in a collaborative project, we seek to understand the extent that genotypic convergence underlies phenotypic convergence by evolving genetically distinct yeast under different conditions. We find a single gene is recurrently mutated across most genetic backgrounds, suggesting that genotypic convergence plays a large role in adaptive evolution.
- 2014 ScienceDirectJallal, Bahija; Ranade, Koustubh; Yao, Yihong.Genomic Biomarkers for Pharmaceutical Development: Advancing Personalized Health Care provides an in-depth review of the state of translational science across all stages of pharmaceutical development with a special focus on personalized health care. This book provides a complete picture of biomarker development and validation in a pharmaceutical setting while addressing the inherent challenges of targeting the appropriate indications, biomarker robustness, regulatory hurdles, commercialization and much more. It features case studies devoted to the applications of pharmacogenomics, toxicogenomics, and other genetic technologies as they support drug discovery and development. With chapters written by international authorities in industry and academia, this work is a truly unique presentation of the thoughts and approaches that lead to the development of personalized medicine. Intended for all those involved in clinical translational research, this book is the ideal resource for scientists searching for the applications, strategies and successful approaches of translational science in pharmaceutical development. Provides case studies in applications of pharmacodynamic and predictive markers in drug development in oncology, autoimmunity, respiratory diseases and infectious diseases. Shows how to identify potential new therapeutic targets in different diseases and provides examples of potential new disease indications for life cycle management of drugs. Authored by leading international experts from industry and academia.
- 2010Wheeler, Heather Elizabeth; Barsh, Gregory Stefan; Brunet, Anne; Kim, Stuart K.; Tang, Hua.Although family studies have shown that genes play a role in longevity and tissue aging, it has proven difficult to identify the specific genetic variants involved. Kidneys age at different rates, such that some people show little or no effects of aging whereas others show rapid functional decline. We developed a sequential transcriptional profiling and expression quantitative trait loci (eQTL) mapping approach known as genomic convergence to find genes associated with aging in the kidney. We first performed whole-genome transcriptional profiling to find 630 genes that change expression with age in the kidney. Next, we used two methods to determine which of these age-regulated genes are eQTLs, which means they contain SNPs whose alleles associate with expression level. We found that 101 of the age-regulated genes are eQTLs. We also found that the allele-specific eQTL detection method, which compares the mRNA levels of the two alleles within heterozygous individuals, was more sensitive than the total expression method in detecting allelic expression differences. We tested the eQTLs for association with kidney aging, measured by glomerular filtration rate (GFR) using combined data from the Baltimore Longitudinal Study of Aging (BLSA) and the InCHIANTI study. We found a SNP association (rs1711437 in MMP20) with kidney aging (uncorrected p = 3.6E-05, empirical p = 0.01) that explains 1-2% of the variance in GFR among individuals. The results of this sequential analysis may provide the first evidence for a gene association with kidney aging in humans. Our approach of combining both expression and genotype data can be applied to any phenotype of interest to increase the power to find genetic associations.
- 2006 SpringerLupski, James R.; Stankiewicz, Paweł.The CMT1A duplication: a historical perspective viewed from two sides of an ocean / James R. Lupski and Vincent Timmerman -- Alu elements / Prescott Deininger -- The impact of LINE-1 retrotransposition on the human genome / Amy E. Hulme ... [et al.] -- Ancient transposable elements, processed pseudogenes, and endogenous retroviruses / Adam Pavlicek and Jerzy Jurka -- Segmental duplications / Andrew J. Sharp and Evan E. Eichler -- Non-B DNA and chromosomal rearrangements / Albino Bacolla and Robert D. Wells -- Genetic basis of olfactory deficits / Idan Menashe, Ester Feldmesser, and Doron Lancet -- Genomic organization and function of human centromeres / Huntington F. Willard and M. Katharine Rudd -- Primate chromosome evolution / Stefan Müller -- Genome plasticity in evolution: the centromere repositioning / Mariano Rocchi and Nicoletta Archidiacono -- The CMT1A duplication and HNPP deletion / Vincent Timmerman and James R. Lupski -- Smith-Magenis syndrome deletion, reciprocal duplication dup(17)(p11.2p11.2), and other proximal 17p rearrangements / Paweł Stankiewicz, Weimin Bi, and James R. Lupski -- Chromosome 22q11.2 rearrangement disorders / Bernice E. Morrow -- Neurofibromatosis 1 / Karen Stephens -- Williams-Beuren syndrome / Stephen W. Scherer and Lucy R. Osborne -- Sotos syndrome / Naohiro Kurotaki and Naomichi Matsumoto -- X chromosome rearrangements / Pauline H. Yen -- Pelizaeus-Merzbacher disease and spastic paraplegia type 2 / Ken Inoue -- Y-chromosomal rearrangements and azoospermia / Matthew E. Hurles and Chris Tyler-Smith -- Inversion chromosomes / Orsetta Zuffardi ... [et al.] -- Monosomy 1p36 as a model for the molecular basis of terminal deletions / Blake C. Ballif and Lisa G. Shaffer -- Inv dup(15) and inv dup(22) / Heather E. McDermid and Rachel Wevrick -- Mechanisms underlying neoplasia-associated genomic rearrangements / Thoas Fioretos -- Recombination hotspots in nonallelic homologous recombination / Matthew E. Hurles and James R. Lupski -- Position effects / Paweł Stankiewicz -- Chromosome-engineered mouse models / Pentao Liu -- Array-CGH for the analysis of constitutional genomic rearrangements / Nigel P. Carter ... [et al.] -- Appendix A: Well-characterized rearrangement-based diseases and genome structural features at the locus / Paweł Stankiewicz and James R. Lupski -- Appendix B: Diagnostic potential for chromosome microarray analysis / Paweł Stankiewicz, Sau W. Cheung and Arthur L. Beaudet.
- 2008 SpringerWilkins, Jon F.DNA methylation reprogramming in the germ line / Diane J. Lees-Murdock and Colum P. Walsh -- Control of imprinting at the GNAS cluster / Jo Peters and Christine M. Williamson -- The GNAS locus and pseudohypoparathyroidism / Murat Bastepe -- Imprinted genes, postnatal adaptations, and enduring effects on energy homeostasis / Margalida Frontera ... [et al.] -- What are imprinted genes doing in the brain? / William Davies ... [et al.] -- Genomic imprinting and human psychology : cognition, behavior, and pathology / Lisa M. Goos and Gillian Ragsdale -- Genomic imprinting in plants / Olivier Garnier, Sylvia Laouiellé-Duprat, and Charles Spillane -- Imprinted genes and human disease : an evolutionary perspective / Francisco Úbeda and Jon F. Wilkins -- Evolutionary theories of imprinting ; enough already! / Tom Moore and Walter Mills.
- Ward, Andrew.Generation of monoparental embryos for investigation into genomic imprinting -- Deriving and propagating mouse embryonic stem cell lines for studying genomic imprinting -- Balanced translocation for the analysis of imprinted regions of the mouse genome -- Production of YAC transgenic mice by pronuclear injection -- A transgenic approach to studying imprinted genes: modified BACs and PACs -- Methylation-sensitive genome scanning -- Subtraction-hybridization method for the identification of imprinted genes -- Identification of imprinted loci by methylation: use of methylation-sensitive representational difference analys (Me-RDA) -- Ribonuclease protection -- Quantitative RT-PCR-based analysis of allele-specific gene expression -- Allele-specific In Situ hybridization (ASISH) -- RNA-FISH to analyze allele-specific expression -- Flow cytometry and FISH to investigate allele-specific replication timing and homologous association of imprinted chromosomes -- Southern analysis using methyl-sensitive restriction enzymes -- A PCR-based method for studying DNA methylation -- Bisulfite-based methylation analysis of imprinted genes -- Direct analysis of chromosome methylation -- In vitro methylation of predetermined regions in recombinant DNA constructs -- In vitro methylation of specific regions in recombinant DNA constructs by excision and religation -- Probing chromatin, structure with nuclease sensitivity assays -- Examining histone acetylation at specific genomic regions -- Purification of the MeCP2/histone deacetylase complex from Xenopus laevis -- Reconstitution of chromatin in vitro -- Genomic imprinting in plants.
- Genomic instability and cancer metastasis : mechanisms, emerging themes, and novel therapeutic strategies2015 SpringerMaxwell, Chris; Roskelley, Cal.Metastasis is the primary cause of mortality associated with cancer, and tumor genomic heterogeneity is a likely source for the cells that support cancer progression, resistance to therapy, and disease relapse. This book connects cancer metastasis with genomic instability in a comprehensive manner. Section 1 outlines the fundamental mechanisms responsible for these cellular and tissue phenotypes. Section 2 discusses in silico, in vitro, and in vivo models used for the experimental study of these processes. Section 3 reviews emerging themes (ex., microenvironment, mechanotransduction, and immunomodulation), and Section 4 highlights new therapeutic approaches to overcome the unique challenges presented by the heterogeneous and metastatic tumor. This book is intended for undergraduates and postgraduates with an interest in the areas of medicine, oncology, and cancer biology as well as for the content expert searching for thorough reviews of current knowledge in these areas.
- 2008Parra, Jessica.
- 2001 ScienceDirectDavidson, Eric H.Also available: Print – 2001
- 2007Halbleib, Jennifer Michelle.
- 2002 ebraryDeSalle, Rob; Yudell, Michael.Making the genome public : the American Museum of Natural History and the coming age of genomics / Michael Yudell and Rob DeSalle -- Genome science and the new frontier -- Introduction / Nicholas Wade -- What does knowing about genomes mean for science and society? / Harold Varmus -- Sequencing the human genome : elucidating our genetic blueprint / Eric Green -- Whole-genome shotgun sequencing / J. Craig Venter -- After the genome: where should we go? / Leroy Hood -- Applications of genomics to medicine and agriculture -- Introduction / Robert Bazell -- Genomics : a rapid road from gene to patient / William Haseltine -- The origins of cancer and the human genome / Arnold J. Levine -- Gene diversity in the endorphin system: SNPs, chips, and possible implications / Mary Jeanne Kreek -- Genomics and biotechnology in agriculture / Barbara A. Schaal -- Exploring human variation : understanding identity in the genomic era -- Introduction / Rob DeSalle -- Using maternal and paternal genes to unlock human history / Douglas C. Wallace -- Eugenics, the genome, and human rights / Daniel J. Kevles -- Redesigning the self: the promise and perils of genetic enhancement / David J. Rothman and Sheila M. Rothman -- Financial, legal, and ethical issues and the new genomics -- Introduction / Michael Waldholz -- Investing in the biotechnology sector / Kris H. Jenner -- The role of patents in exploiting the genome / Rebecca Eisenberg -- Social side effects of the new human molecular genetic diagnostics / Troy Duster -- Mapping morality : the rights and wrongs of genomics / Arthur l. Caplan -- Summing up : finding our way through the revolution / Kathi E. Hanna.
- 2012 Springer ProtocolsFeuk, Lars.What have studies of genomic disorders taught us about our genome / Alexandra D. Simmons, Claudia M.B. Carvalho, and James R. Lupski -- Microdeletion and microduplication syndromes / Lisenka E.L.M. Vissers and Paweł Stankiewicz -- Structural genomic variation in intellectual disability / Rolph Pfundt and Joris A. Veltman -- Copy number variation and psychiatric disease risk / Rebecca J. Levy [and others] -- Detection and characterization of copy number variation in autism spectrum disorder / Christian R. Marshall and Stephen W. Scherer -- Structural variation in subtelomeres / M. Katharine Rudd -- Array-based approaches in prenatal diagnosis / Paul D. Brady [and others] -- Structural variation and its effect on expression / Louise Harewood, Evelyne Chaignat, and Alexandre Reymond -- Challenges of studying complex and dynamic regions of the human genome / Edward J. Hollox -- Population genetic nature of copy number variation / Per Sjodin and Mattias Jakobsson -- Detection and interpretation of genomic structural variation in mammals / Ira M. Hall and Aaron R. Quinlan -- Structural genetic variation in the context of somatic mosaicism / Jan P. Dumanski and Arkadiusz Piotrowski -- Online resources for genomic structural variation / Tam P. Sneddon and Deanna M. Church -- Algorithm implementation for CNV discovery using affymetrix and illumina SNP array data / Laura Winchester and Jiannis Ragoussis -- Targeted screening and validation of copy number variations / Shana Ceulemans, Karlijn van der Ven, and Jurgen Del-Favero -- High-resolution copy number profiling by array CGH using DNA isolated from formalin-fixed, paraffin-embedded tissues / Hendrik F. van Essen and Bauke Ylstra -- Characterizing and interpreting genetic variation from personal genome sequencing / Anna C.V. Johansson and Lars Feuk -- Massively parallel sequencing approaches for characterization of structural variation / Daniel C. Koboldt [and others].
- 2008Kumar, Dhavendra; Weatherall, D. J.From genes to genomes: a historical perspective -- The human genome: structure and organization -- Human function genomics and proteomics -- Epigenomics and human disease -- Genomic perspectives of human development -- Genetic and genomic approaches to taxonomy of human disease -- Genomic technologies -- Nutritional genomics -- Pharmacogenomics: drug development, drug response, and precision medicines -- Clinical medicine in the genome era: an introduction -- Complex cardiovascular disorders -- Diabetes mellitus and obesity -- Chronic renal disease -- Hemostasis and thrombosis -- Disorders of platelets -- Applications in critical care medicine -- The epilepsies -- Neurodegenerative disorders: tauopathies and synucleinopathies -- Neuropsychiatric diseases I: schizophrenia -- Neuropsychiatric disease II: mood disorders -- Asthma and chronic obstructive pulmonary disease -- Inflammatory bowel disease -- Genomics and cancer: mechanisms and applications -- Hematological malignancies: the paradigm of acute myeloid leukemia -- Genomics and infectious diseases: susceptibility, resistance, antimicrobial therapy -- Rheumatoid arthritis and related arthropathies -- Immunological disorders -- Applications in clinical pediatrics -- Learning and behavioral disorders -- Complex ophthalmic disorders -- Applications in audiological medicine -- Complex skin diseases I: psoriasis -- Complex skin diseases II: atopic dermatitis -- Diseases of the epidermis and appendages, skin pigmentation and skin cancer -- Osteoporosis and disorders -- Applications in obstetrics and gynecology and reproductive medicine -- Stem cell genomics, and regenerative medicine -- Genomics and global health -- Genetic testing and genomic screening -- Ethical, legal, and social issues (ELSI) -- The regulation of human genomics research.
- 2008 SpringerInnocenti, Federico.Genomic experimental approaches in oncology -- Pharmacogenomics of toxicity and response of chemotherapy -- Pharmacogenomics in clinical drug development in oncology.
- 2014 SpringerMarko-Varga, György A.This book offers a valuable resource that allows students, researchers, educators and the general public to learn about proteomics and genomics. Chromosomes form the basis for our genetic heritage and are the code for protein synthesis. The Human Genome Map was presented in 2002, and the Proteome Sequence Map is currently being created by a global consortia initiative. Proteome and genome building blocks already form the basis of scientific research areas and shape major areas of the pharmaceutical and biomedical industries. The book provides background information on and our current understanding of these gene and protein areas, and explains in detail how cutting-edge science is using these resources to develop new medicines and new diagnostics for patient treatment and care. The book will benefit all students and researchers who need a good understanding of genomics and proteomics within the clinical field. Its content is also suitable for a broad readership, including those not specialized in this field. Dr. Marko-Varga is head of Div. Clinical Protein Science & Imaging at the Biomedical Center, Dept. of Measurement Technology and Industrial Electrical Engineering, Lund University. He's also Professor at the 1st Department of Surgery, Tokyo Medical University, Tokyo, Japan.
- 2008 SpringerAronow, Bruce J.; Handwerger, Stuart.Microarray-based gene expression analysis of endocrine systems: principles of experimental design and interpretation. -- Gene expression profiles and transcription factors involved in parathyroid hormone signaling in osteoblastic cells. -- Analysis of growth hormone effects on hepatic gene expression in hypophysectomized rats. -- Gene expression profiling in leiomyoma in response to GnRH therapy and TGF-beta. -- Gene profiling analysis of androgen receptor mediated function. -- Interrogating estrogen receptor [alpha] signaling in breast cancer by chromatin immunoprecipitation microarrays. -- Gene expression analysis of the adrenal cortex in health and disease. -- DNA microarray analysis of human uterine decidualization. -- Large-scale DNA microarray data analysis reveals glucocorticoid receptor-mediated breast cancer cell survival pathways. -- Application of microarrays for gene transcript analysis in type 2 diabetes. -- DNA microarray analysis of effects of TSH, iodide, cytokines, and therapeutic agents on gene expression in cultured human thyroid follicles. -- Genomics and polycystic ovary syndrome (PCOS): the use of microarray analysis to identify new candidate genes. -- Microarray analysis of alterations induced by obesity in white adipose tissue gene expression profiling. -- Novel molecular signaling and classification of human clinically nonfunctioning pituitary adenomas identified by microarray and reverse transcription-quantitative polymerase chain reaction. -- Gene expression studies of prostate hyperplasia in prolactin transgenic mice.
- 2008 CRCnetBASEAnkley, Gerald T.Toxicogenomics in ecological risk assessments: regulatory context, technical background, and workshop overview / Gerald Ankley, Ann Miracle, and Edward Perkins -- Application of genomics to screening / Sean W. Kennedy ... [et al.] -- Application of genomics to tiered testing / Charles R. Tyler ... [et al.] -- Application of genomics to regulatory ecological risk assessments for pesticides / Sigmund J. Degitz ... [et al.] -- Application of genomics to assessment of the ecological risk of complex mixtures / Edward Perkins ... [et al.] -- Applications of genomic technologies to ecological risk assessments at remediation and restoration sites / Ann L. Miracle ... [et al.] -- Toxicogenomics in ecological risk assessments: a prospectus / George P. Daston ... [et al.]. Toxicogenomics in ecological risk assessments: regulatory context, technical background, and workshop overview / Gerald Ankley, Ann Miracle, and Edward Perkins -- The development of genomic-based screening assays for ecotoxicology / Sean W. Kennedy ... [et al.] -- Application of genomics to tiered testing / Charles R. Tyler ... [et al.] -- Application of genomics to regulatory ecological risk assessments for pesticides / Sigmund J. Degitz ... [et al.] -- Molecular biology and risk assessment: evaluation of the potential roles of genomics in regulatory ecotoxicology / Edward Perkins ... [et al.] -- Applications of genomic technologies to ecological risk assessments at remediation and restoration sites / Ann L. Miracle ... [et al.] -- Toxicogenomics in ecological risk assessments: a prospectus / George P. Daston ... [et al.].
- 2008 SpringerGustafson, J. P.; Stacey, Gary; Taylor, J.
- 2013 SpringerKutikhin, Anton G.; Yuzhalin, Arseniy E.The Biology of Toll-like Receptors and NOD-like Receptors: Toggles of Inflammation -- Pattern Recognition Receptors, Gene Polymorphisms, and Cancer: A Double-Edged Sword -- Structural Genomic Variation in Toll-Like Receptor 4 and Cancer -- Structural Genomic Variation in Other Toll-like Receptors and Cancer -- Structural Genomic Variation in Toll-Like Receptor Signaling Pathway and Cancer -- Structural Genomic Variation in Toll-like Receptor Pathway and Prostate Cancer -- Structural Genomic Variation in NOD-Like Receptors and Cancer -- Structural Genomic Variation in Pattern Recognition Receptors and Cardiovascular Diseases -- Hot Spots In the Field: Where Should We Go.
- 2011 SpringerClelland, James D.Complex behaviours are the product of intercellular signalling events, but their intracellular effectors are present in most cell types. The best-studied example of such architecture is the circadian clock, which directs all diurnal behaviour and physiology, and whose central mechanism is present in most body cells. We present below a method to look at its properties via transcriptional reporters virally delivered to primary cells. By studying primary fibroblasts cultivated from skin biopsies in different human subjects, we have been able to analyse the molecular underpinnings of variance in human daily behaviour. Similar methodologies could be applied to other signalling pathways.
- 2008 Springer ProtocolsElaswarapu, Ramnath; Starkey, Michael P.Protein profiling based on two-dimensional difference gel electrophoresis / Gert Van den Bergh and Lutgarde Arckens -- Quantitative protein profiling by mass spectrometry using isotope-coded affinity tags / Arsalan S. Haqqani, John F. Kelly, and Danica B. Stanimirovic -- Quantitative protein profiling by mass spectrometry using label-free proteomics / Arsala S. Haqqani, John F. Kelly, and Danica B. Stanimirovic -- Using 2D-LC-MS/MS to identify Francisella tularensis peptides in extracts from an infected mouse macrophage cell line / John F. Kelly and Wen Ding -- Baculovirus expression vector system : an emerging host for high-throughput eukaryotic protein expression / Binesh Shrestha, Carol Smee, and Opher Gileadi -- Coimmunoprecipitation and proteomic analyses / S. Fabio Falsone, Bernd Gesslbauer, and Andreas J. Kungl -- Tandem affinity purification combined with mass spectrometry to identify components of protein complexes / Peter Kaiser ... [et al.] -- Mammalian two-hybrid assay for detecting protein-protein interactioins in vivo / Runtao He and Xuguang Li -- Detection of protein-protein interactions in live cells and animals with split firefly luciferase protein fragment complementation / Victor Villalobos, Snehal Naik, and David Piwnica-Worms -- Subcellular localization of intracellular human proteins by construction of tagged fusion proteins and transient expression in COS-7 cells / John E. Collins -- GeneFAS : a tool for the prediction of gene function using multiple sources of data / Trupti Joshi ... [et al.] --Comparative genomics-based prediction of protein function / Toni Gabaldón -- Design, manufacture, and assay of the efficacy of siRNAs for gene silencing / Louise A. Dawson and Badar A. Usmani. Whole genome amplification with Phi29 DNA polymerase to enable genetic or genomic analysis of samples of low DNA yield / Kaisa Silander and Janna Saarela -- Scanning for DNA variants by denaturant capillary electrophoresis / Per O. Ekstrøm -- Identification of SNPs, or mutations in sequence chromatograms / Nicole Draper -- BeadArray-based genotyping / Helen Butler and Jiannis Ragoussis -- Microsattelite-based candidate gene linkage analysis studies / Cathryn Mellersh -- Full complexity genomic hybridization on 60-mer oligonucleotide microarrays for array comparative genomic hybridization (aCGH) / Alexei Protopopov, Bin Feng, and Lynda Chin -- Detection of copy number changes at multiple loci in DNA prepared from formalin-fixed, paraffin-embedded tissue by multiplex ligation -dependent probe amplification / Minoru Takata -- Application of microarrays for DNA methylation profiling / Axel Schumacher, Andreas Weinhäusl, and Arturas Petronis -- Genomewide identification of protein binding locations using chromatin immunoprecipitation coupled with microarray / Byung-Kwan Cho, Eric M. Knight, and Bernhard Ø. Palsson -- Transcriptional profiling of small samples in the central nervous system / Stephen D. Ginsberg -- Quantitative expression profiling of RNA from formalin-fixed, paraffin-embedded tissues using randomly assembled bead arrays / Marina Bibikova ... [et al.] -- Expression profiling of microRNAs in cancer cells : technical considerations / Mouldy Sioud and Lina Cekaite -- Identification of disease biomarkers by profiling of serum proteins using SELDI-TOF mass spectrometry / Sigrun Langbein -- The applicability of a cluster of differentiation monoclonal antibody microarray to the diagnosis of human disease / Peter Ellmark ... [et al.] --
- 2012Van Nostrand, Eric Lyman; Brunet, Anne; Kim, Stuart K.; Sidow, Arend; Snyder, Michael.Although the development of high-throughput techniques to quantify gene expression have enabled us to characterize genes that change in various conditions, identifying the regulators that drive these changes remains a challenging problem. Recent efforts to identify direct transcription factor targets provide a foothold to addressing the identification of regulators, by allowing inference of critical factors based on the expression patterns of their targets. However, success in this approach requires an improved ability to infer factor-responsive targets (those regulated by the transcription factor) from direct targets (those bound by the factor). By identifying factor-specific binding sites (i.e., those regions bound by the factor of interest but not by many additional random transcription factors), we found that the link between direct and functional targets was significantly improved -- e.g., although only 26% of significant HLH-1 binding sites correlated with altered expression when HLH-1 was over-expressed, over 40% of factor-specific significant binding sites did so. In the course of this work, we identified HOT (Highly Occupied Target) regions that were bound by more than 65% of factors assayed. Surprisingly, our analysis indicated that these regions were not artifacts of the target identification methodology. Rather, they instead indicate a potentially novel regulatory mechanism for expression of housekeeping genes, as genes associated with HOT regions were highly and ubiquitously expressed and essential for development. Next, we applied this approach to the study of aging. Although genome-wide microarray experiments in C. elegans have identified over a thousand genes with age-dependent expression, only a handful of transcriptional regulators are known to link altered lifespan with modulation of genes that change during wild-type aging. We describe an approach to infer potential regulators of aging and longevity by interrogating direct transcription factor targets generated by the modENCODE project. We identify nine factors with targets significantly enriched for altered expression with age, including three previously shown to modulate lifespan. We further show that for two additional factors, NHR-28 and NHR-76, strains in which these factors are over-expressed show increased lifespan, suggesting that these factors may represent additional links between age-dependent gene expression changes with longevity. This approach identified HOX co-factor unc-62 (Homothorax) as a developmental regulator that binds age-regulated transcripts and modulates lifespan. In the intestine (in which UNC-62 knockdown increases lifespan) we identify multiple activities: UNC-62 binds to and activates both intestine-expressed yolk protein genes that decline with age as well as neuronal-enriched genes that increase in intestinal expression with age. An alternatively spliced, tissue-specific isoform of unc-62 is expressed exclusively in the intestine and declines with age, providing a potential mechanism for distinct activities of UNC-62 between tissues and stages. Thus, UNC-62 provides a proof of principle for uncovering unexplored transcription factors effecting aging and longevity through integrated analysis of developmental regulatory targets.
- 2014 Springer ProtocolsGaivão, Isabel; Sierra, L. María.Genotoxicity and DNA Repair: A Practical Approach provides a key reference for determining how to analyze the genotoxic activity of molecules or materials and, at the same time, serves as a useful tool for researchers in the Environmental Mutagenesis and DNA Repair fields. Focused on genotoxicity assays recommended by the "OECD guidelines for the testing of chemicals", this volume also covers other useful assays, such as some gene mutation assays, the comet assay in different species and applications, and the SMART assays of Drosophila. For all the assays, the book presents brief theoretical introductions to the topics and updated standard and modified step-by-step protocols to perform them. Special emphasis is placed on the analysis of nanoparticles, including an integrative approach analysis. The DNA Repair section includes several assays that provide information on repair activity in vitro and in vivo, as well as recent applications to study DNA repair in humans, cell cultures, and animal models. As a volume in the Methods in Pharmacology and Toxicology series, the chapters contain the kind of detail and key implementation advice that ensures reproducible results in the lab.
- 2013 Springer ProtocolsBajpayee, Mahima; Dhawan, Alok.Genetic toxicology is recognized by geneticists and researchers concerned with the genetic impact of man-made chemicals.In Genotoxicity Assessment: Methods and Protocols, expert researchers in the field provide comprehensive genetictoxicology protocols. These include in vitro and in vivo protocols on mutation assays, cytogenetic techniques, and primary DNA damage, assays in alternate to animal models, and updated ICH guidelines. Written in the highly successfulMethods in Molecular Biology series format, the chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step and readily reproducible laboratory protocols, as well as key tips ontroubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Genotoxicity Assessment: Methods and Protocols seeks to aid research students and scientists working in regulatory toxicology as well as biomedical, biochemical and pharmaceutical sciences.
- 2005 SpringerCummings, Jeffrey L.
- 2006Acock, Alan C.
- 2007 SpringerFetherston, Jacqueline D.; Perry, Robert Donald."The 9th International Symposium on Yersinia was held in Lexington, Kentucky, USA on October 10-14, 2006. Over 250 Yersinia researchers from 18 countries gathered to present and discuss their research. In addition to 37 oral presentations, there were 150 poster presentations. This Symposium volume is based on selected presentations from the meeting and contains both reviews and research articles. It is divided into six topic areas: 1) genomics; 2) structure and metabolism; 3) regulatory mechanisms; 4) pathogenesis and host interactions; 5) molecular epidemiology and detection; and 6) vaccine and antimicrobial therapy development. Consequently, this volume covers a wide range of current research areas in the Yersinia field."--Preface.Also available: Print – 2007
- Geocoding health data : the use of geographic codes in cancer prevention and control, research, and practice2008 CRCnetBASERushton, Gerard.
- 2002 CRCnetBASEEhrlich, Henry Lutz.
- 2002 CRCnetBASELis-Balchin, Maria.
- 2008 SpringerMcLeskey, Charles H.The practice of geriatric anesthesia / Jeffrey H. Silverstein -- Demographics and economics of geriatric patient care / Maria F. Galati and Roger D. London -- Theories of aging / Stanley Muravchick -- Ethical management of the elderly patient / Paul J. Hoehner -- Teaching geriatric anesthesiology to practitioners, residents, and medical students / Sheila J. Ellis -- Research priorities in geriatric anesthesiology / Christopher J. Jankowski and David J. Cook -- Alterations in metabolic functions and electrolytes / Michael C. Lewis -- Perioperative thermoregulation / Daniel I. Sessler -- Postoperative central nervous system dysfunction / Deborah J. Culley, Terri G. Monk, and Gregory Crosby-- Alterations in circulatory function / Thomas J. Ebert and G. Alec Rooke -- The aging respiratory system : anesthetic strategies to minimize perioperative pulmonary complications / Rodrigo Cartin-Ceba ... [et al.] -- Operative debridements of chronic wounds / Andrew M. Hanflik ... [et al.] -- Preoperative risk stratificationand methods to reduce risk / Linda L. Liu and Jacqueline M. Leung -- Anesthetic implications of chronic medications / Tamas A. Szabo and R. David Warters -- The pharmacology of opioids / Steven L. Shafer and Pamela Flood -- Intravenous hypnotic anesthetics / Matthew D. McEvoy and J.G. Reves -- Inhalational anesthetics / Gary R. Haynes -- Relaxants and their reversal agents / Cynthia A. Lien and Takahiro Suzuki -- Management of regional anesthesia / Bernadette Veering -- Fluid management / Jessica Miller, Lee A. Fleisher, and Jeffrey L. Carson -- Pain management / Jack M. Berger -- Anesthesia considerations for geriatric outpatients / Kathryn E. McGoldrick -- Sedaton and monitoring / Sheila R. Barnett -- Total hip replacement, joint replacement, and hip fracture / Idit Matot and Shaul Beyth -- Transurethral prostatectomy syndrome and other complications of urologic procedures / Daniel M. Gainsburg -- Thoracic procedures / Steven M. Neustein and James B. Eisenkraft -- Cardiac procedures / James H. Abernathy III -- Vascular procedures / Leanne Groban and Sylvia Y. Dolinski -- Abdominal procedures / Jeffrey H. Silverstein.
- 2008McLeskey, Charles H.; Reves, J. G.; Rooke, G. Alec; Silverstein, Jeffrey H.
- 2013 SpringerGuermazi, Ali; Guglielmi, G.; Peh, Wilfred C. G.In the elderly, the coexistence of various diseases, the presence of involutional and degenerative changes, and the occurrence of both physical and cognitive problems represent ""the norm."" It is therefore important to know how to distinguish the healthy elderly from those in need of treatment as a sound basis for avoiding overdiagnosis and overtreatment. This aspect is a central theme in Geriatric Imaging, which covers a wide range of applications of different imaging techniques and clearly explains both the potential and the limitations of diagnostic imaging in geriatric patients.
- 2007 CRCnetBASEMorley, John E.; Thomas, D. R.1. The aging society and nutrition epidemiology / Shailaja Pulisetty and John E. Morley -- 2. Molecular theories of aging and nutritional interventions / H.J. Armbrecht -- 3. The role of nutrition in the prevention of age-associated diseases / John E. Morley -- 4. Obesity in older adults / Gary A. Wittert -- 5. Sarcopenia and cachexia / John E. Morley and Matthew T. Haren -- 6. Immunity and nutrition / Chantri Trinh -- 7. Nutritional requirements in older adults / David R. Thomas -- 8. Energy balance / John E. Morley -- 9. Water metabolism / David R. Thomas and John E. Morley -- 10. Vitamin disorders / Ramzi R. Hajjar and Zeina Nahhas -- 11. Trace elements / John E. Morley -- 12. Nutritional assessment in older persons / David R. Thomas -- 13. Geriatric assessment and its interaction with nutrition / Julie K. Gammack -- 14. Nutritional assessment in the European community / Juergen Martin Bauer and Dorothee Volkert -- 15. The oral cavity and nutrition / Nathalia Garcia and D. Douglas Miley -- 16. Management of protein-energy undernutrition in older adults / David R. Thomas -- 17. Prescription for enteral nutrition / Zareen Syed and Syed H. Tariq.
- 2009 SpringerBalducci, Lodovico; Hurria, Arti.Aging and cancer, what oncologists need to know / Arti Hurria, Lodovico Balducci -- Assessing the older cancer patient / Melissa Cohen, David Reuben, Arash Naeim -- Cancer screening in older adults / Louise C. Walter -- Physiological consequences of aging / Bindu Kanapuru, William B. Ershler -- Assessment and impact of comorbidity in older adults with cancer / Athanasios Karampeasiz, Martine Extermann -- Geriatric syndromes defined and explained for oncology practice / Miriam B. Rodin -- Family caregivers / Betty R. Ferrell, Polly Mazanec -- Surgical management of the older patient with cancer / David M. Heimann, M. Margaret Kemeny -- Chemotherapy for the older adult with cancer / Supriya Mohile, Nail Nagovskiy, Lodovico Balducci -- Radiation therapy in geriatric oncology / Sarah E. Hoffe, Mark S. Russell -- Palliative care, special considerations for older adults with cancer / Genevieve N. Thompson, Harvey M. Chochinov.
- 2009 SpringerBeaver, Hilary A.; Lee, Andrew G.Scope of the problem and demographic shift in population: visual disease incidence and prevalence in the elderly population -- Refractive error in the geriatric population -- Cataracts and cataract surgery -- Glaucoma in the elderly -- Diabetic retinopathy and its management -- Age-related macular degeneration and its management -- Low vision: when vision fails -- Visual loss and depression -- Visual loss and dementia -- Visual loss and hearing loss -- Visual loss and falls -- Elder abuse -- Functional impairment and visual loss -- The research agenda-setting project (RASP) -- Screening for comorbidities -- Refer comorbidities.
- 2015 Thieme-ConnectJohns, Michael M.; Kost, Karen M.; Sataloff, Robert Thayer.The science of aging / Alessandro Bitto, Chad A. Lerner, and Christian Sell -- Geriatric otolaryngology : an overview / Karen M. Kost -- Understanding geriatric syndromes, the geriatric interdisciplinary team, and resources to optimize care for older patients / Sarah H. Kagan -- Evaluation of the outpatient geriatric patient / David Eibling -- Operative evaluation of the geriatric patient / Natalie Justicz and Jeanne Hatcher -- Age-related hearing loss / Kourosh Parham, Frank R. Lin, and Brian W. Blakley -- Regenerative therapies for sensorineural hearing loss : current research implications for future treatment / Cynthia L. Chow and Samuel P. Gubbels -- Hearing aids : considerations in the geriatric population / Amanda Kantor, Erica Miele, John Luckhurst, Mary Hawkshaw, and Robert T. Sataloff -- Cochlear implantation in the elderly / Daniel H. Coelho and Brian J. McKinnon -- Subjective idiopathic tinnitus in the geriatric population / Paul F. Shea and Brian J. McKinnon -- Dizziness, imbalance, and age-related vestibular loss in the geriatric population / Yuri Agrawal, Allan Rubin, and Stephen J. Wetmore -- Sinonasal disease in the elderly / David R. Edelstein -- Taste and smell in the elderly / Richard L. Doty and Hussam Tallab -- Inhalant allergies and asthma in the geriatric population / Karen H. Calhoun -- Voice disorders in the elderly / Robert T. Sataloff and Karen M. Kost -- Swallowing disorders in the elderly / Ozlem E. Tulunay-Ugur -- Sleep disturbance in the geriatric population / Christopher G. Larsen and M. Boyd Gillespie -- Facial plastic surgery in geriatric patients / J. Regan Thomas -- Oral cavity disorders in geriatric patients / Elliot Regenbogen and Denise A. Trochesset -- Advanced cutaneous malignancies in the elderly / Kelly Michele Malloy and Chaz L. Stucken -- Head and neck cancer in the elderly / Mihir R. Patel, Raymond L. Chai, and Ara A. Chalian -- The role of neuropsychology in the evaluation and treatment of geriatric patients / Thomas Swirsky-Sacchetti and Caterina B. Mosti.
- 2012 ScienceDirectAvers, Dale; Guccione, Andrew A.; Wong, Rita.Geriatric Physical Therapy offers a comprehensive presentation of geriatric physical therapy science and practice. Thoroughly revised and updated, editors Andrew Guccione, Rita Wong, and Dale Avers and their contributors provide current information on aging-related changes in function, the impact of these changes on patient examination and evaluation, and intervention approaches that maximize optimal aging. Chapters emphasize evidence-based content that clinicians can use throughout the patient management process. Six new chapters include: Exercise Prescription, Older Adults and Their Families, Impaired Joint Mobility, Impaired Motor Control, Home-based Service Delivery, and Hospice and End of Life. Clinically accurate and relevant while at the same time exploring theory and rationale for evidence-based practice, it's perfect for students and practicing clinicians. It's also an excellent study aid for the Geriatric Physical Therapy Specialization exam. Comprehensive coverage provides all the foundational knowledge needed for effective management of geriatric disorders. Content is written and reviewed by leading experts in the field to ensure information is authoritative, comprehensive, current, and clinically accurate. A highly readable writing style and consistent organization make it easy to understand difficult concepts. Tables and boxes organize and summarize important information and highlight key points for quick reference. A well-referenced and scientific approach provides the depth to understand processes and procedures. Theory mixed with real case examples show how concepts apply to practice and help you enhance clinical decision-making skills. Standard APTA terminology familiarizes you with terms used in practice.
- 2011 SpringerNakasato, Yuri; Yung, Raymond L.Part 1. Aging and Comorbidity in Rheumatology -- The Immune System in Aging / Anjali Desai and Raymond L. Yung -- Bone Aging / Arthur N. Lau and Jonathan D. Adachi -- Atherosclerosis in the Rheumatic Diseases: Compounding the Age Risk / Naoto Yokogawa and Joan M. Von Feldt -- Neuropsychiatric Manifestations of Rheumatic Diseases in the Elderly / Jamal A. Mikdashi -- Tuberculosis and Rheumatoid Arthritis in the Elderly / Eduardo M. Acevedo-Vásquez, Darío Ponce de León and Rocío V. Gamboa-Cárdenas -- Widespread Pain in Older Adults / Cheryl D. Bernstein, Jordan F. Karp and Debra K. Weiner -- Part 2. Multidisciplinary Approach to Geriatric Rheumatology -- Pharmacotherapy Considerations Unique to the Older Patient / Keith A. Swanson and Mark A. Stratton -- Rheumatic Disease in the Nursing Home Patient / Joanne Sandberg-Cook -- Post-acute Care for Rheumatologists / Deborah W. Robin -- The Gerontorheumatology Outpatient Service: Toward an International Classification of Function-Based Health Care Provision for the Elderly with Musculoskeletal Conditions / Wim Van Lankveld, Josien Goossens and Marcel Franssen -- Health Policy, Public Health, and Arthritis Among Older Adults / Kristina A. Theis, Debra R. Lubar and Teresa J. Brady -- Physical Therapy Management of Select Rheumatic Conditions in Older Adults / Maura Daly Iversen and Madhuri K. Kale -- Arthrocentesis in the Elderly / Ahmed S. Zayat and Richard J. Wakefield -- Physical Activity in Older Adults with Arthritis / Dorothy D. Dunlop, Pamela A. Semanik and Rowland W. Chang -- Part 3. Rheumatic Diseases in the Elderly -- Systemic Lupus Erythematosus in Elderly Populations / Ana M. Bertoli, Guillermo J. Pons-Estel, Paula I. Burgos and Graciela S. Alarcón -- Elderly Onset Rheumatoid Arthritis / Venkata Sri Cherukumilli and Arthur Kavanaugh -- Disease-Modifying Antirheumatic Drug Use in Older Rheumatoid Arthritis Patients / Sogol S. Amjadi, Veena K. Ranganath and Daniel E. Furst -- Epidemiology, Risk Factors, and Aging of Osteoarthritis / Crisostomo Bialog and Anthony M. Reginato -- Osteoarthritis in the Elderly Population / Roy D. Altman -- Medium- and Small-Vessel Vasculitis / Rafael G. Grau -- Management of Geriatric Gout / Lan X. Chen -- Calcium-Containing Crystal-Associated Arthropathies in the Elderly Population / Elisabeth B. Matson and Anthony M. Reginato -- Polymyalgia Rheumatica and Giant Cell Arteritis in the Elderly / Wolfgang A. Schmidt -- Antiphospholipid Syndrome in the Older Population / Silvia S. Pierangeli, Alan M. Seif and Emilio B. González -- Osteoporosis and Metabolic Bone Diseases of the Elderly / Lora Giangregorio and Alexandra Papaioannou -- Infectious Arthritis in the Elderly / Nicole Melendez and Luis R. Espinoza -- Sarcopenia and Myopathies in the Elderly / Kenneth S. O'Rourke -- Scleroderma in the Elderly Population / Rebecca L. Manno and Fredrick M. Wigley -- Sjögren's Syndrome in the Elderly / Raymond L. Yung and Sheeja Francis.
- 2014 SpringerLuchette, Frederick A.; Yelon, Jay A.Geriatric Trauma and Critical Care provides a multidisciplinary overview of the assessment and management of the elderly patient presenting with surgical pathology. By utilizing current literature and evidence-based resources, the textbook elucidates the unique nature of caring for the elderly population. The structure of the volume provides the reader with an overview of the physiologic and psychological changes, as well as the impact on the healthcare system, associated with the aging process. Emphasis is placed on the impact of aging, pre-existing medical problems, effects of polypharmacy, advanced directives and end-of-life wishes on acute surgical problems, including trauma and surgical critical care. Special attention is given to the ethical implications of management of the aged. The multidisciplinary contributors provide a unique point of view not common to surgical texts. The textbook is the definitive resource for practicing surgeons, emergency medicine physicians, intensivists, anesthesiologists, hospitalists, geriatricians, as well as surgical residents, nurses and therapists, all who care for elderly patients with surgical emergencies.
- 2014 SpringerGriebling, Tomas Lindor.Geriatric urology represents one of the largest overall sectors of care provided within the specialty of urology. As the incidence and prevalence of many clinical urologic conditions increase significantly in older adults, the practice of urology involves a need for advanced knowledge of the basic principles of geriatrics. Geriatric Urology outlines important topics in the care of elderly urology patients. The first section covers the biology of aging, changes in the genitourinary system, and common diseases including urologic conditions that may serve as warning signs of other disorders. Section two covers geriatric syndromes and implications for urologic care including frailty, polypharmacy, dementia, , and wound healing. Urologic conditions in older adults are explored in detail including urinary incontinence, pelvic organ prolapse, urinary tract infection, nocturia, and benign prostate diseases. Other topics covered include obtaining informed consent, development of advance directives, palliative medicine and care of the dying patient. Geriatric Urology is of great value to urologists, geriatricians, internists, residents and family practitioners.
- G protein coupled receptors. Modeling, activation, interactions and virtual screening — Genetic basis of common diseases. 2nd ed. (166)
- Genetic cardiomyopathies : a clinical approach — Geriatric urology (166)
- Geriatrics models of care : bringing 'best practice' to an aging America — Goodman & Gilman's The Pharmacological basis of therapeutics. 12th ed. (166)
- Goodman & Gilman's The Pharmacological basis of therapeutics. 11th ed. — Gynecological imaging : a reference guide to diagnosis (163)
- Harrison's Principles of Internal Medicine
- AAP Red Book Online
- Robbins & Cotran Pathologic Basis of Disease
- Sabiston Textbook of Surgery
- Nelson's Textbook of Pediatrics
- Surgical Exposures in Orthopaedics
- Mandell, Douglas, & Bennett's Principles & Practice of Infectious Diseases
- Red Book Online
- ICU Book
- Primary Care Medicine
- Campbell-Walsh Urology
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