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Books by Subject

Genetics, Medical

  • 2006 Springer
    Jeanteur, Ph.
    Methods and platforms for the quantification of splice variants' expression / Laurent Bracco ... [et al.] -- Pre-mRNA missplicing as a cause of human disease / Tatyana Novoyatleva ... [et al.] -- Alternative splicing : therapeutic target and tool / Mariano A. Garcia-Blanco -- SR proteins as potential targets for therapy / Johann Soret, Mathieu Gabut, Jamal Tazi -- Misregulation of tau alternative splicing in neurodegeneration and dementia / Athena Andreadis -- Spinal muscular atrophy and therapeutic prospects / Brunhilde Wirth, Lars Brichta, Eric Hahnen -- Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy / N. Muge Kuyumcu-Martinez, Thomas A. Cooper -- Redirecting splicing to address dystrophin mutations : molecular by-pass surgery / Stephen D. Wilton, Susan Fletcher -- Altered splicing in prelamin A-associated premature aging phenotypes / Annachiara De Sandre-Giovannoli, Nicolas Levy -- Splicing modulation as a modifier of the CFTR function / Malka Nissim-Rafinia, Batsheva Kerem.
  • 2011 ScienceDirect
    Morris, Andrew Paul; Zeggini, Eleftheria.
    According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. This book will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research.
  • 2004 HighWire
    Dzau, Victor J.; Ylä-Herttuala, S.
    Also available: Print – 2004
  • 2014 Springer
    Grimm, Stefan.
    "This book discusses the emergence of a new class of genes with a specific anticancer activity. These genes, recently defined as "Anticancer Genes", are reviewed in individual chapters on their mode of action, the specific cell death signals they induce, and the status of attempts to translate them into clinical application. Anticancer Genes provides an overview of this nascent field, its genesis, current state, and prospect. It discusses how Anticancer Genes might lead to the identification of a repertoire of signaling pathways directed against cellular alterations that are specific for tumor cells."--Publisher's website.
    Also available: Print – 2014
  • 2015 Springer Protocols
    Jain, K. K.
    An Overview of Methods Used in Neurogenomics and Their Applications -- Gene Expression-Based Approaches to Understanding Huntington{u2019}s Disease and New Tools for the Interpretation of Expression Datasets -- Location Analysis and Expression Profiling Using Next Generation Sequencing for Research in Neurodegenerative Diseases -- RNA Sequencing from Laser Capture Microdissected Brain Tissue to Study Normal Aging and Alzheimer{u2019}s Disease -- Targeted Re-Sequencing in Psychiatric Disorders -- Role of Neurogenomics in the Development of Personalized Neurology.
  • 2012 Springer
    Chen, Harold.
  • 2006 Springer
    Chen, Harold.
    Arcadia -- Achondrogenesis -- Achondroplasia -- Adams-Oliver syndrome -- Agnathia -- Aicardi syndrome -- Alagille syndrome -- Albinism -- Amniotic band syndrome -- Androgen insensitivity syndrome -- Angelman syndrome -- Apert syndrome -- Aplasia cutis congenita -- Arthrogryposis multiplex congenita -- Asphyxiating thoracic dystrophy -- Ataxia telangiectasia -- Atelosteogenesis -- Autism -- Beckwith-Wiedemann syndrome -- Behcet disease -- Bladder exstrophy -- Body stalk anamoly -- Branchial clefts anamolies -- Campomelic dysplasia -- Cat eye syndrome -- Cerebro-costo-mandibular syndrome -- Charcot-Marie-Tooth disease -- CHARGE Association -- Cherubism -- Chiari malformation -- Chondrodysplasia punctata -- Chromosome abnormalities in pediatric solid tumors -- Cleft lip and/or cleft palate -- Cleidocranial dysplasia -- Cloacal exstrophy -- Collodion baby -- Congenital adrenal hyperplasia (21-hydroxylase deficiency) -- Congenital cutis laxa -- Congenital cytomegalovirus infection -- Congenital generalized lipodystrophy -- Congenital hydrocephalus -- Congenital hypothyriodism -- Congenital muscular dystrophy -- Congenital toxoplasmosis -- Conjoined twins -- Corpus callosum agenesis/dysgenesis -- Craniometaphysical dysplasia -- Cri-du-chat syndrome -- Crouzon syndrome -- Cystic fibrosis -- Dandy-Walker malformation -- De Lange syndrome -- Del(22q11.2) syndromes -- Diabetic embryopathy -- Down syndrome -- Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic dysplasia -- Dysmelia (limb deficiency/reduction) -- Dysplasia epiphysealis hemimelica -- Dystonia -- Dystrophinopathies -- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome -- Dhlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Enchondromatosis (Maffucci syndrome; Ollier syndrome) -- Epidermolysis bullosa -- Epidermolytic palmoplantar keratoderma -- Faciogenital (Aarskog) dysplasia -- Facioscapulohumeral muscular dystrophy -- Familial adenomatous polyposis -- Familial hyperlysinemia -- Fanconi anemia -- Femoral hypoplasia-unusual facies syndrome -- Fetal akinesia syndrome -- Fetal alcohol syndrome -- Fibrodysplasia ossificans progressiva -- Finlay-Marks syndrome -- Fragile X syndrome -- Fraser syndrome -- Freeman-Sheldon syndrome -- Frontonasal dysplasia -- Galactosemia -- Gastroschisis -- Gaucher disease -- Generalized arterial calcification of infancy -- Glucose 6-phosphate dehydrogenase deficiency -- Glycogen storage disease, type II -- Goldenhar syndrome -- Hallermann-Streiff syndrome -- Harlequin ichthyosis (harlequin fetus) -- Hemophilia A -- Hereditary hemochromatosis -- Hereditary multiple exostoses -- Holoprosencephaly -- Holt-Oram syndrome -- Hydrops fetalis -- Hyper-IgE syndrome -- Hypochondroplasia -- Hypoglossia-hypodactylia syndrome -- Hypohidrotic ectodermal dysplasia -- Hypomelanosis of Ito -- Hypophosphatasia -- Incontinentia pigmenti -- Infantile myofibromatosis -- Ivemark syndrome -- Jarcho-Levin syndrome -- Kabuki syndrome -- Kasabach-Merritt syndrome -- KID syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay syndrome -- Kniest dysplasia -- Larsen syndrome -- LEOPARD syndrome -- Lesch-Nyhan syndrome -- Lethal multiple pterygium syndrome -- Lowe syndrome -- Marfan syndrome -- McCune-Albright syndrome -- Meckel-Gruber syndrome -- Menkes disease (Kinky-hair syndrome) -- Metachromatic leukodystrophy -- Miller-Dieker syndrome -- Möbius syndrome -- Mucolipidosis II (I-cell disease) -- Mucolipidosis III (pseudo-Hurler polydystrophy) -- Mucopolysaccharidosis I (MPS I) (alpha-L-iduronidase deficiency) : Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) syndromes -- Mucopolysaccharidosis II (Hunter syndrome) -- Mucopolysaccharidosis III (Sanfilippo syndrome) -- Mucopolysaccharidosis IV (Morquio syndrome) -- Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) -- Multiple epiphyseal dysplasia -- Multiple pterygium syndrome -- Myotonic dystrophy type I -- Netherton syndrome -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis I -- Noonan syndrome -- Oblique facial cleft syndrome -- Oligohydramnios sequence -- Omphalocele -- Osteogenesis imperfecta -- Osteopetrosis -- Pachyonychia congenita -- Pallister-Killian syndrome -- Phenylketonuria (PKU) -- Pierre Robin sequence -- Polycystic kidney disease, autosomal dominant type -- Polycystic kidney disease, autosomal recessive type -- Prader-Willi syndrome -- Progeria -- Prune belly syndrome -- Pseudoachondroplasia -- R(18) syndrome -- Retinoid embyopathy -- Rett syndrome -- Rickets -- Roberts syndrome -- Robinow syndrome -- Rubinstein-Taybi syndrome -- Schizencephaly -- Schmid metaphyseal chondrodysplasia -- Seckel syndrome -- Severe combined immune deficiency -- Short rib polydactyly syndromes -- Sickle cell disease -- Silver-Russell syndrome -- Sirenomelia -- Smith-Lemli-Opitz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- Spinal muscular atrophy -- Spondyloepiphyseal dysplasia -- Stickler syndrome -- Sturge-Weber syndrome -- Tay-Sachs disease -- Tetrasomy 9p syndrome -- Thalassemia -- Thanatophoric dysplasia -- Thrombocytopenia-absent radius syndrome -- Treacher-Collins syndrome -- Trimethylaminuria -- Triploidy -- Trismus pseudocamptodactyly syndrome -- Trisomy 13 syndrome -- Trisomy 18 syndrome -- Tuberous sclerosis -- Turner syndrome -- Twin-twin transfusion syndrome -- Ulnar-mammary syndrome -- VATER (VACTERL) Association -- Von Hippel-Lindau disease -- Waardenburg syndrome -- Williams syndrome -- Wolf-Hirschhorn syndrome -- X-linked ichthyosis -- XXX syndrome -- XXXXX syndrome -- XXXXY syndrome -- XY female -- XYY syndrome.
  • 2012 ebrary, Limited to 3 simultaneous users
    Nyhan, William L.; Al-Aqeel, Aida I.; Barshop, Bruce A.
    Organic acidemias -- Disorders of amino acid metabolism -- Hyperammonemia and disorders of the urea cycle -- Disorders of fatty acid oxidation -- The lactic acidemias and mitochonrdial disease -- Disorders of carbohydrate metabolism -- Perioxisomal disorders -- Disorders of purine metabolism -- Disorders of transport and mineral metabolism -- Mucopolysaccharidoses -- Mucolipidoses -- Disorders of cholesterol and neutral lipid metabolism -- Lipid storage disorders -- Miscellaneous.
  • 2015 Springer
    Ishigatsubo, Yoshiaki.
    This book, besides reviewing basic and clinical aspects of Behėt's disease, covers the latest findings, including genetic studies and treatment with biologics for the disease. Although the cause of Behėt's disease is still unknown, it is well known that genetic factors, such as HLA-B51, are involved in its development. Recently, novel susceptibility loci including IL10, IL23R-IL12RB2, and endoplasmic reticulum aminopeptidase 1 have been identified, providing new insights into the pathogenesis of the disease. In addition to basic research, the beneficial efficacy of anti-TNF-alpha monoclonal antibodies has also been suggested for not only uveitis associated with the disease but also other subtypes of the disease such as entero-, vasculo-, and neuro- Behėt's disease. Behėt's Disease: From Genetics to Therapies provides essential information both for basic researchers working in the fields of immunology, inflammation, and genetics, and for clinical physicians who are interested in Behėt's disease, such as ophthalmologists, rheumatologists, dermatologists, gastroenterologists, neurologists, and vascular surgeons.
  • 2014 ScienceDirect
    Liehr, Thomas.
    Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development. Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate. Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques.
  • 2014 ScienceDirect
    Padyukov, Leonid.
    Between the Lines of Genetic Code lays out methodologies and tools for the measurement and evaluation of gene-gene and gene-environment studies and gives perspective on the future of this discipline. The book begins by defining terms for interaction studies, describing methodologies, and critically assessing the viability of current study designs and the possibilities for integrating designs. It then provides recent applications data with case studies in rheumatoid arthritis, multiple sclerosis, myositis and other complex human diseases. Last, it examines current studies and directions for future applications in patient care. Recent multivariate studies show that gene-gene and gene-environment interactions can explain significant variances in inheritance that have previously been undetectable in univariate analysis. These links among genes and between genes and their environments during the development of diseases may serve as important hints for understanding pathogenic mechanisms and for developing new tools for prognosis, diagnosis, and treatment of various diseases. Systematically integrates methods of defining and detecting gene interactions to provide an overview of the field. Critically analyzes current methods and tools to aid researchers in integrating gene interaction studies Includes examples of current biomedical applications and presents current research expected to shape clinical research in the near future.
  • 2011 Springer
    Gordijn, Bert; Lenk, Christian; Sándor, Judit.
    Pt. I. Biobanks, tissue research and the public. Public trust and public bodies : the regulation of the use of human tissue for research in the United Kingdom / Julie Kent, Ruud ter Meulen -- Biobanks and research : scientific potential and regulatory challenge / Bernice S. Elger, Nikola Biller-Andorno -- A sense of entitlement : individual vs. public interest in human tissue / Nils Hoppe -- Social aspects of biobanking : beyond the public/private distinction and inside the relationship between the body and identity / Federico Neresini -- Pt. II. The rights of donors and patients. One sample, one share! A proposal to redress an inequity with equity / Jasper Adriaan Bovenberg -- Research on human biological materials : what consent is needed, and when / Eugenijus Gefenas, Vilius Dranseika, Asta Cekanauskaite, Jurate Serepkaite -- Reconsidering consent and biobanking / Emma Bullock, Heather Widdows -- What's wrong with forensic uses of biobanks? / Claudio Tamburrini -- Pt. III. Regulation of tissue research. A unified European approach on tissue research and biobanking? A comparison / Katharina Beier, Christian Lenk -- Ireland and the United Kingdom's approaches to regulation of research involving human tissue / Elizabeth Yuko, Adam McAuley, Bert Gordijn -- Legal and ethical aspects of biobanks for research in the European-Mediterranean area / Renzo Pegoraro, Allesandra Bernardi, Fabrizio Turoldo -- The circulation of human body parts and products : when exclusive property rights mask the issue of access / Florence Bellivier, Christine Noiville -- Anonymity and privacy in biobanking / Judit Sándor, Petra Bárd.
  • 2007
    Wilson, Golder.
    PrintStatus: Not Checked OutLane Catalog Record
  • 2010
    Wilson, Golder.
    PrintStatus: Not Checked OutLane Catalog Record
    High Yield Facts -- DNA Structure, Replication and Repair -- Gene Expression and Regulation -- Acid-base equilibria, amino acids, and protein structure -- Protein Structure/Function -- Carbohydrate Metabolism -- Bioenergetics and Energy Metabolism -- Lipid, Amino Acid and Nucleotide Metabolism -- Vitamins and Minerals -- Hormones and Integrated Metabolism -- Inheritance Mechanisms/Risk Calculations -- Genetic and Biochemical Diagnosis.
  • 2013
    Wilson, Golder; Tonk, Vijay S.
    PrintStatus: Not Checked OutLane Catalog Record
  • 2013
    Furrow, Barry R.; Greaney, Thomas L.; Johnson, Sandra H.; Jost, Timothy S.; Schwartz, Robert L.
    An introduction to the study of ethics and ethical theories -- Reproduction and birth -- Legal issues in human genetics -- Organ transplantation and the determination of death -- Life and death decisions -- Medically assisted dying -- -- Regulation of research involving human subjects -- Population health and public health.
  • 2011 Springer
    Mill, Jonathan; Petronis, Arturas.
    1. Posttranslational histone modifications and the neurobiology of psychosis -- 2. Epigenetic regulation of GABAergic targets in psychiatry -- 3. Possible roles of DNA methylation in bipolar disorder -- 4. The epigenetics of depression and suicide -- 5. Epidemiology research adn epigenetics: translational epidemiology of schizophrenia -- 6. Environmental studies as a tool for detecting epigenetic mechanisms in schizophrenia -- 7. Imprinting, inactivation and the behavioural genetics of the X chromosomes -- 8. The strategies of the genes: genomic conflicts, attachment theory, and development of the social brain -- 9. Genomic imprinting effects on brain and behavior: future directions -- 10. Epigenetic influence of the social environment -- 11. Toward an understanding of the dynamic interdependence of genes and environment in the regulation of phenotype -- 12. Histone deacetylase inhibitors: a novel therapeutic approach for cognitive disorders -- 13. Epigenetic mechanisms of memory consolidation -- 14. Epigenetic methanisms in memory formation.
  • 2011 Springer
    Sweet, Kevin M.; Michaelis, Ron C.
    1. Genetic variability provides the biochemical basis for our individuality, including differences in our susceptibility to many common diseases -- 2. Making the most of family history information, single gene disorders and Mendelian patterns of inheritance, and when to refer to a genetic specialist -- 3. Types of genetic tests and issues associated with the interpretation of their results -- 4. Toward the safer and more effective use of prescription drugs: pharmacogenetics -- 5. Taking a personalized medicine approach to breast and colon cancer -- 6. Personalized risk assessments and treatments for complex cardiovascular disease -- 7. Other multifactorial disorders for which genetic/genomic testing is providing insights -- Epilogue and list of resources.
  • 2010 Springer
    Pasche, Boris.
    Also available: Print – 2010
  • 2010 Springer
    Thomas-Tikhonenko, Andrei.
  • 2007 Springer Protocols
    Rokosh, Gregg; Zhang, Jun.
  • 2005 Springer
    Kasparov, Sergey; Katovich, Michael J.; Paton, Julian F. R.; Raizada, Mohan K.
    Angiotensin II receptor polymorphisms and hypertension / Bruno Baudin -- Angiotensinogen gene polymorphisms and hypertension / Ashok Kumar -- Substitution mapping: using congenic strains to detect genes controlling blood pressure / Bina Joe and Michael R. Garrett -- Local production of angiotensinogen: insights from genetic manipulation of mice / Kamal Rahmouni and Curt D. Sigmund -- Cardiovascular pharmacogenomics / Julie A. Johnson and Larisa H. Cavallari -- Genetic polymorphisms and responses to HMG-CoA, reductase inhibitors / Anke-Hilse Maitland-van der Zee, Olaf H. Klungel, and Anthonius de Boer -- Monogenic causes of heart failure: familial dilated cardiomyopathy / Hideko Kasahara -- Gene therapy vs. pharmacotherapy / Ryuichi Morishita -- Molecular therapeutic approaches for myocardial protection / Alok S. Pachori, Luis G. Melo, and Victor J. Dzau -- Gene transfer and the cardiovascular system / William H. Miller ... [et al.] -- Kallikrein gene transfer in hypertension, cardiovascular and renal disease, and stroke / Julie Chao and Lee Chao -- Current and future novel targets of gene therapy for hypertension / Michael J. Katovich, Justin L. Grobe, and Mohan K. Raizada -- Application of viral gene transfer in studies of neurogenic hypertension / Sergey Kasparov, A.G. Teschemacher, and Julian F.R. Paton -- Vigilant vectors: intelligent gene vectors for cardioprotection in myocardial ischemia / M. Ian Phillips and Yi Tang -- Gene therapy for cerebral arterial diseases / Yoshimasa Watanabe and Donald D. Heistad -- Therapeutic angiogenesis and vasculogenesis for tissue regeneration / Paolo Madeddu -- Cell transplantation: the new frontier / Shafie Fazel ... [et al.] -- Embryonic stem cells and the cardiovascular system / Neta Lavon and Nissim Benvenisty.
  • 2010
    Wirt, Stacey Ellen; Artandi, Steven E.; McConnell, Susan K.; Sage, Julien; Wong, Albert J.
    The ability of stem/progenitor cells to exit the cell cycle is essential for proper embryonic development, but the mechanisms governing cell cycle exit are still not fully understood. Correct regulation of G1 is critical for ensuring proper organismal development, tissue homeostasis, and tumor suppression. The Retinoblastoma (Rb) gene family is composed of three genes, Rb, p107, and p130, which are collectively thought to serve as essential regulators of the G1 phase of the cell cycle in most proliferating cell types. The Rb family has also been implicated in promoting the gene expression of several differentiation programs in different cell lineages. However, due to the overlapping and compensatory functions among the Rb family members, a complete understanding of how the Rb family controls the cell cycle and differentiation programs within a cell remains unclear. Furthermore, it has not yet been tested whether the Rb family members are the only mediators of these cellular processes, or if there are alternative mechanisms for cell cycle exit and differentiation in mammalian stem and progenitor cells. Here we tested the requirement for the Rb protein and its family members p107 and p130 in G1 arrest and differentiation in mammalian cells. We employed several strategies to conditionally remove the Rb family genes in entire embryos and in specific neural lineages, as well as multiple differentiation systems in vitro. We found that Rb family triple knock-out (TKO) mouse embryos survive until days 9-11 of gestation, with similar patterning and organogenesis as seen in wild type embryos. Strikingly, a number of TKO cells, including in the neural lineage, are able to exit the cell cycle in G1 and fully differentiate in vivo and in culture. This ability of TKO cells to arrest in G1 is associated with the repression of key cell cycle target genes for E2F and Myc transcription factors. Thus, G1 arrest can be achieved independently of Rb family members, illustrating the robustness of cell cycle regulatory networks during embryogenesis, and identifying a novel program that regulates cell cycle exit in G1 in mammalian cells.
  • 2010
    Snider, Alyssa Christine; Crabtree, Gerald R.; Fuller, Margaret T.; Lipsick, Joseph Steven; Scott, Matthew P.; Wysocka, Joanna.
    Early embryonic cell types such as the zygote, blastomeres of the preimplantation embryo, and embryonic stem (ES) cells have powerful chromatin remodeling activities that facilitate DNA-dependent processes such as transcription and DNA repair. Chd1l encodes a chromatin remodeling factor and is more highly expressed in the inner cell mass (ICM) compared to the whole blastocyst. Chd1l expression is developmentally regulated during a time course of preimplantation development and is present in ES cells. Intriguing expression patterns suggested Chd1l could be a novel regulator of DNA-dependent processes in early developmental cell types. This dissertation describes research undertaken to address the role of Chd1l in chromatin remodeling in the preimplantation embryo and in ES cells. Reducing Chd1l protein to nearly undetectable levels in ES cells reveals that Chd1l is dispensable for ES cell viability, proliferation, and pluripotent morphology. Global gene expression patterns are unaltered by Chd1l knock-down. Chd1l is also dispensable for expression patterns of lineage markers associated with the formation of the primary germ layers in differentiating embryoid bodies. Zygote-stage embryos injected with Chd1l-MO arrest prior to the morula stage. Knock-down by the MO was confirmed at the transcript levels by microfluidic qPCR, and the arrest phenotype was partially rescued upon co-injection of Chd1l mRNA and Chd1l-MO. ES cells are known to have stringent and unique pathways to repair DNA damage to prevent mutation and genomic instability from arising in the organism. Reduction of Chd1l in ES cells confers resistance to induced DNA damage, a finding that contrasts with another study that used a differentiated cell line. Apoptosis induced by over-expression of Chd1l occurs specifically in ES cells and not in their differentiated counterparts. This switch in the effect of Chd1l over-expression during differentiation suggests that the function of Chd1l is very different in ES cells than in differentiated somatic cells. DNA repair through non-homologous end joining (NHEJ) is particularly critical in the zygote to repair the paternal genome. Differentiated somatic cells, but not ES cells also rely heavily on NHEJ. Biochemical evidence supports the involvement of Chd1l in NHEJ. Deficient DNA repair could underlie the Chd1l arrest phenotype. Therefore, Chd1l functions minimally, or not at all, in regulating gene expression and contributes to the DNA damage response in a developmental stage-specific and/or cell type-specific manner.
  • 2007 Springer
    Vijayalaxmi; Obe, G.
  • 2012 CRCnetBASE
    Rasnick, David.
    1. Introducing Cancer -- 2. Boveri's theory of cancer was ahead of its time -- 3. Genesis of "The enemy within"? -- 4. Gene mutation theory of cancer -- 5. The chromosomal imbalance theory of cancer -- 6. Theory of chromosomal imbalance solves mysteries and paradoxes -- 7. New perspectives for cancer prevention, diagnosis and therapy.
  • 2015 Springer
    Ghadimi, B. Michael; Ried, Thomas.
    DNA repair and chromosomal translocations -- CINcere modelling: what have mouse models for chromosome instability taught us? -- Telomere dysfunction, chromosomal instability and cancer -- Genetic instability and disease progostication -- Causes of chromosomal instability -- Patterns of chromosomal aberrations in solid tumors -- Yeast as models of mitotic fidelty -- The diverse effects of complex chromosome rearrangements and chromothripsis in cancer development -- Consequence of aneuploidy in cancer: transcriptome and beyond.
  • 2013 Springer Protocols
    Kosaka, Nobuyoshi.
    Functional analysis of exosomal microRNA in cell-cell communication research / Nobuyoshi Kosaka [and others] -- Isolation of extracellular nanovesicle microRNA from liver cancer cells in culture / Takayuki Kogure and Tushar Patel -- Methods of analysis of dendritic cell-derived exosome-shuttle microRNA and its horizontal propagation between dendritic cells / Angela Montecalvo, Adriana T. Larregina, and Adrian E. Morelli -- Analysis of microRNA and protein transfer by exosomes during an immune synapse / Carolina Villarroya-Beltri -- Analysis of viral microRNA exchange via exosomes in vitro and in vivo / Frederik J. Verweij [and others] -- Measurement of precursor miRNA in exosomes from human ESC-cerived mesenchymal stem cells / Tian Sheng Chen and Sai Kiang Lim -- Analysis of the transfer of circulating microRNA between cells mediated by gap junction / Steven J. Greco and Pranela Rameshwar -- Isolation of circulating microRNA associated with RNA-binding protein / Andrey Turchinovich, Ludmila Weiz, and Barbara Burwinkel -- Identification and analysis of circulating exosomal microRNA in human body fluids / Cecilia Lässer -- Analyzing the circulating microRNAs in exosomes/extracellular vesicles from serum or plasma by qRT-PCR / Leni Moldovan [and others] -- Direct serum assay for microRNA in cancer patients / Sota Asaga and Dave S.B. Hoon -- Analysis of microRNA niches : techniques to measure extracellular microRNA and intracellular microRNA in situ / Victoria N. Parikh and Stephen Y. Chan -- Analysis of circulating microRNA by microarray in liver disease / Yoshiki Murakami and Toshihito Tanahashi -- Isolation of circulating microRNA in saliva / Alessia Gallo and Ilias Alevizos -- Purification of RNA from milk whey / Hirohisa Izumi [and others] -- Circulating microRNAs in the cerebrospinal fluid of patients with brain diseases / Akira Machida, Takuya Ohkubo, and Takanori Yokota -- Methods of microRNA quantification in urinary sediment / Gang Wang and Cheuk Chun Szeto -- Circulating microRNA for the identification of forensically relevant body fluids / Erin K. Hanson and Jack Ballantyne -- Identification of prostate cancer-associated microRNAs in circulation using a mouse model of disease / Luke A. Selth [and others] -- Combination of extraction reagent and DNA microarray that allows for the detection of global miRNA profiles from serum/plasma / Makiko Ichikawa and Hideo Akiyama -- Nanopore single-molecule detection of circulating microRNAs / Li-Qun Gu and Yong Wang.
  • 2014 CRCnetBASE
    Carini, Claudio; Chang, Mark; Menon, Sandeep M.
    "The successful utilization of biomarkers in clinical development and, indeed, realization of personalized medicine require a close collaboration among different stakeholders: clinicians, biostatisticians, regulators, commercial colleagues, and so on. For this reason, we invited experts from different fields of expertise to address the opportunities and challenges, and discuss recent advancements related to biomarkers and their translation into clinical development. The first four chapters discuss biomarker development from a clinical perspective ranging from introduction to biomarkers to recent advances in RNAi screens, epigenetics, and rare disease as targets for personalized medicine approaches. Chapters 5 through 10 are devoted to considerations from a statistical perspective, and the last chapter addresses the regulatory issues in biomarker utilization. A biomarker is a characteristic that can be objectively measured and evaluated as an indicator of a physiological as well as pathological process or response to a therapeutic intervention. Although there is nothing new about biomarkers such as glucose for diabetes and blood pressure for hypertension, the current focus on molecular biomarkers has taken the center stage in the development of molecular medicine. Molecular diagnostic technologies have enabled the discovery of molecular biomarkers and are assisting in the definition of the pathogenic mechanism of diseases. Biomarkers represent the basis of the development of diagnostic assays as well as the target for drug discovery. Biomarkers can help monitoring drugs effect in clinical trials as well as in clinical practice"-- Provided by publisher.
  • 2012 Wellcome Trust
    Jones, Emma M.; Tansey, E. M.
    Transcript / edited by E M Jones and E M Tansey -- Appendix 1. Timeline for UK Clinical Cancer Genetics Groups -- Appendix 2. Archival material from St Mark's Polyposis Registry -- Register cards / interpreted by Ms Kay Neale -- Letter from Dr C Dukes to Dr J C Burne -- Adaptation of poem, You Are Old Father William / by Dr C Dukes -- Obituary for Dr H J R Bussey / by Basil Morson -- Appendix 3. Pedigree of a Newfoundland family, 'Family C', with HNPCC -- Appendix 4. -- Cancer Genetics: a personal view / Professor David Harnden -- Glossary -- Biographical notes.
  • 2011 Springer
    Baars, H. F.; Doevendans, Pieter A.; Smagt, J. J. van der.
    Introduction to molecular genetics -- Clinical genetics -- Hypertrophic cardiomyopathy -- Familial dilated cardiomyopathy -- Arrhythmogenic right ventricular dysplasia/cardiomyopathy from desmosome to disease -- Noncompaction cardiomyopathy -- Mitochondrial cardiomyopathy -- Restrictive cardiomyopathy -- Congenital long QT-syndrome -- The Brugada syndrome -- Short QT syndrome -- Catecholaminergic polymorphic ventricular tachycardia -- A molecular genetic perspective on atrial fibrillation -- Idiopathic ventricular fibrillation -- The genetics of mitral valve prolapse -- Atrioventricular (AV) reentry tachycardia -- Hereditary cardiac conduction diseases -- Connective tissue disorders and smooth muscle disorders in cardiology -- Genetics of congenital heart defects -- Genetic disorders of the lipoprotein metabolism: diagnosis and management -- Novel insights into genetics of arterial thrombosis -- The pharmacogenetics of atherosclerosis -- Genetics of (premature) coronary artery disease -- Heredity neuromuscular diseases and cardiac involvement -- Sudden cardiac death in the young: epidemiology and cardiogenetic evaluation of victims and their relatives -- The outpatient clinics for cardiogenetics -- Abdominal aortic aneurysm -- Future of cardiogenetics.
  • 2010 Wellcome Trust
    Harper, Peter S.; Reynolds, L. A.; Tansey, E. M.
  • 2014
    Babyatsky, Mark W.; Giovanni, Monica A.; Murray, Michael F.
    The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.
  • 2007 Thieme Book
    Passarge, Eberhard.
    Also available: Print – 2007
  • 2013 Thieme Book
    Passarge, Eberhard.
    Introduction -- Chronology -- Fundamentals -- Prologue -- Molecular basis of genetics -- Analysis of DNA -- Variability of DNA -- Processing of DNA -- Eukaryotic cells -- Formal genetics -- Chromosomes -- Regulation of gene function -- Epigenetic modifications -- Genetic signal pathways -- Genes in embryonic development -- Genomics -- Genetics and medicine -- Imbalanced homeostasis -- Metabolic disorders -- Immune system -- Origins of cancer -- Impaired cell and tissue structure -- Hemoglobin disorders -- Sex determination and differentiation -- Atypical patternns of genetic transmission -- Sensory perception -- Karyotype-phenotype relationnship -- A grief guide to genetic diagnosis -- Morbid anatomy of the human genome - chromosomal locations - alphabetic list -- Appendix -- Supplementary data.
  • 2009 Springer
    Al-Tubaikh, Jarrah Ali; Reiser, Maximilian F.
  • 2013
    Widdows, Heather.
    Currently, the ethics infrastructure -- from medical and scientific training to the scrutiny of ethics committees -- focuses on trying to reform informed consent to do a job which it is simply not capable of doing. Consent, or choice, is not an effective ethical tool in public ethics and is particularly problematic in the governance of genetics. Heather Widdows suggests using alternative and additional ethical tools and argues that if individuals are to flourish it is necessary to recognise and respect communal and public goods as well as individual goods. To do this she suggests a two-step process -- the 'ethical toolbox'. First the harms and goods of the particular situation are assessed and then appropriate practices are put in place to protect goods and prevent harms. This debate speaks to core concerns of contemporary public ethics and suggests a means to identify and prioritise public and common goods. -- [Publisher-supplied data]
  • 2010
    Kawahara, Tiara Lynn Aiko; Chang, Howard Y.; Chua, Katrin Faye; Khavari, Paul A.; Sweet-Cordero, E. Alejandro.
    Aging is a degenerative process accompanied by tissue deterioration, decline in function and increased susceptibility to disease. It is now understood to be a genetically and environmentally regulated process, rather than simply the result of wear and tear. We developed a systematic approach to identify combinatorial cis-regulatory motifs that drive age-dependent gene expression across different tissues and organisms, and identified the transcription factor NF-[kappa]B as a candidate regulator of aging. Using multiple independent models, we show a role for NF-[kappa]B in regulating transcriptional programs of aging. First, we found that aged mice subjected to NF-[kappa]B blockade for two weeks exhibit reversion of the tissue characteristics and global gene expression programs to those of young mice. Next, we detected deregulated transcriptional activity of NF-[kappa]B in Sirt6-deficient mice, which exhibit premature aging-like symptoms. We show that Sirt6 interacts with the NF-[kappa]B RelA subunit and deacetylates histone H3 lysine 9 (H3K9) at NF-[kappa]B target gene promoters. Computational genomics analyses revealed increased activity of NF-[kappa]B-driven gene expression programs in multiple Sirt6-deficient tissues in vivo. Moreover, haploinsufficiency of RelA rescues the early lethality and degenerative syndrome of Sirt6-deficient mice, suggesting that hyperactive NF-[kappa]B-dependent transcription in the absence of Sirt6 promotes premature aging-like syndromes. Finally, we performed a genome-scale survey of RelA and Sirt6 location on chromatin in mouse embryonic fibroblasts (MEFs) via chromatin immunoprecipiation (ChIP)-on-chip to understand to what extent Sirt6 and RelA act coordinately to regulate gene expression. These results indicate that RelA and Sirt6 co-occupy the promoters of a large population of genes at sites less than 500kb apart and/or require RelA to enable binding of Sirt6. Expression analysis of these shared targets reveals direct regulation of 301 promoters, including genes such as Shc1 (encoding p66), Cdkn2a (encoding p16), Wnt2 and Jmjd3, which have been separately implicated in the aging process. We propose that hyperactive NF-[kappa]B signaling contributes to premature and normal aging.
  • 2011 Karger
    Collmann, Hartmut; Kress, Wolfram; Muenke, Max; Solomon, Benjamin D.
    Craniosynostosis - the premature fusion of the cranial sutures of an infant's skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units. This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come.
  • 2006 CRCnetBASE
    Vandenbroeck, Koen.
    The biology of cytokines : general principles, properties and lessons from animal models / Davide Agnello and Massimo Gadina -- Genetics of multifactorial disorders / Jorge R. Oksenberg and John D. Rioux -- Statistical approaches to analysis of polymorphisms in multifactorial disorders / An Goris and Mariza de Andrade -- Introduction to integrated bioinformatic resources for cytokine genetics research / Ross Lazarus -- Cytokine gene nucleotide sequence alignments / Jeffrey Bidwell -- SNP genotyping techniques / Pui-Yan Kwok -- The IL1 cluster / Tanja Pessi ... [et al.] -- IL-2 biology and polymorphisms in multifactorial conditions / Fuencisla Matesanz, María Fedetz, and Antonio Alcina -- The chromosome 5q23.1-q 31.1 cluster of cytokines / Tarja Laitinen -- IL10 / Ross Lazarus --; The IL19 subfamily of cytokines / Sulev Kõks ... [et al.] -- The IFNG-IL26-IL22 cytokine gene cluster / Koen Vandenbroeck and An Goris -- TNF polymorphisms and disease / Reginald M. Gorczynski and Ivo Boudakov -- Macrophage migration inhibitory factor (MIF) / Zaynab Alourfi, David W. Ray, and Rachelle Donn -- Polymorphisms of chemokines and their receptors / Bénédicte Puissant, Christophe Combadière, and Elise Lavergne -- Asthma and atopy / Jussi Karjalainen ... [et al.] -- Common rheumatic diseases / Rachael Kilding and Anthony G. Wilson -- Systemic lupus erythematosus / Sandra D'Alfonso -- Sjögren's syndrome / Marja Pertovaara -- Multiple sclerosis / Orhun H. Kantarci and Brian G. Weinshenker --; Type 1 and 2 diabetes / Regine Bergholdt and Flemming Pociot -- Psoriasis / Sulev Kõks ... [et al.] -- Diseases of the gastrointestinal tract / Thomas Höhler -- Pulmonary fibrosis / Berran Yucesoy and Michael I. Luster -- Atherosclerosis / Giuseppina Candore ... [et al.] -- Longevity / Irene Maeve Rea ... [et al.] -- AIDS / Alexandre Vasilescu, Hervé Do, and Jean-Francois Zagury -- Tropical infectious diseases / Thereza Quirico-Santos ... [et al.] -- Suseptibility to infection and severe disease in schistosomiasis / Violaine Arnaud and Christophe Chevillard.
  • 2012 ScienceDirect
    Bloch-Zupan, Agnès; Scully, Crispian; Sedano, Heddie O.
  • 2012 Springer
    Iacobelli, Stefano; Iovanna, Juan; Russo, Antonio.
    1. Gene Signatures and Soft Tissue Sarcomas: Status of Art and Perspectives / Bruno Vincenzi, Anna Maria Frezza, Daniele Santini, and Giuseppe Tonini -- 2. Heterogeneity of Breast Cancer: Gene Signatures and Beyond / Gaia Schiavon, Marcel Smid, Gaorav P. Gupta, Stefania Redana, Daniele Santini, and John W.M. Martens -- 3. Gene Signatures in CRC and Liver Metastasis / Daniele Fanale, Lidia Corsini, Sergio Rizzo, and Antonio Russo -- 4. Gene Signatures in Gastrointestinal Stromal Tumors / Piotr Rutkowski, Giuseppe Badalamenti, Laura La Paglia, Joanna Przybył, and Maria Debiec-Rychter -- 5. Pancreatic Cancer Genetics / Juan Iovanna, Ezequiel Luis Calvo, Jean Charles Dagorn, and Nelson Dusetti -- 6. Diagnostic, Prognostic, and Therapeutic Value of Gene Signatures in Non-Small Cell Lung Cancer / Rafael Rosell, Miquel Taron, Christian Diego Rolfo, Delvys Rodriguez-Abreu, and Jia Wei -- 7. Gene Signatures in Gastric Cancer / Laura Ottini, Mario Falchetti, and Gabriella Nesi -- 8. Gene Signatures in Colorectal Cancer / Alessandro Lugli and Inti Zlobec -- 9. The Role of Epigenetics in Cancer: From Molecular Function to High-Throughput Assays / Aleksandra Pekowska, Joaquin Zacarias-Cabeza, Jinsong Jia, Pierre Ferrier, and Salvatore Spicuglia -- 10. Primary Epithelial Ovarian Neoplasms: New Concepts Concerning Origin, Pathogenesis and Classification Based on Morphology, Immunomarkers, Molecular Features, and Gene Expression Studies / Bernard Czernobilsky, Leonor Leider-Trejo, Daniele Fanale, and Antonio Russo -- 11. Thyroid Carcinoma: Molecular Signature by Histotype-Specific Mutations and Gene Expression Patterns / Umberto Malapelle, Claudio Bellevicine, Lajos Pustzai, and Giancarlo Troncone.
  • 2010 Springer
    Ahmad, Shamim I.
    Triple A syndrome / Vijaya Sarathi and Nalini S. Shah -- Amyotrophic lateral sclerosis / J. Jefferson ... [et al.] -- Early onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 / Masayoshi Tada ... [et al.] -- Clinical features and pathogenesis of Alzheimer's disease : involvement of mitochondria and mitochondrial DNA / Michelangelo Mancuso ... [et al.] -- Huntington's disease / Emmanuel Roze ... [et al.] -- Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA) / Masahisa Katsuno ... [et al.] -- Spinocerebellar ataxia with axonal neuropathy / Cheryl Walton ... [et al.] -- Tuberous sclerosis complex and DNA repair / Samy L. Habib -- Hereditary photodermatoses / Dennis H. Oh and Graciela Spivak -- Trichothiodystrophy : photosensitive, TTDP, TTD,Tay syndrome / W. Clark Lambert, Claude E. Gagna, and Muriel W. Lambert -- Cornelia De Lange syndrome / Jinglan Liu and Gareth Baynam -- Rectal cancer and importance of chemoradiation in the treatment / Sergio Huerta -- Familial cutaneous melanoma / Johan Hansson -- Primary immunodeficiency syndromes / Mary A. Slatter and Andrew R. Gennery -- Inherited defects of immunoglobulin class switch recombination / Sven Kracker, Pauline Gardøs, and Anne Durandy -- Ligase IV syndrome / Dimitry A. Chistiakov -- Muir-Torre syndrome / Pedro Mercader -- Wilms' tumor / Carlos H. Martinez, Sumit Dave, and Jonathan Izawa -- Cerebro-oculo-facio-skeletal syndrome / Hiroshi Suzumura and Osamu Arisaka -- Dyskeratosis congenita / Vineeta Gupta and Akash Kumar -- Retinoblastoma / Dietmar Lohmann -- Von Hippel Lindau syndrome / Jenny J. Kim, Brian I. Rini, and Donna E. Hansel.
    Also available: Print – 2010
  • 2012 Springer
    Grover, Sonia R.; Hutson, John M.; Warne, G. L.
  • 2011
    Kobayashi, Yuya; Brooks, James D.; Lipsick, Joseph Steven; Myers, Richard; Sherlock, Gavin; Tang, Hua.
    Candidate gene based studies have identified a handful of aberrant CpG DNA methylation events in prostate cancer (Brooks et al. 1998; Yegnasubramanian et al. 2004). However, large scale DNA methylation profiles have not been examined for normal prostates or prostate tumors. Additionally, the mechanisms behind these DNA methylation alterations are unknown. In this thesis, I describe the results of my efforts to better understand these previously unexplored areas of biology. For the study presented in this thesis, I quantitatively profiled 95 primary prostate tumors and 86 healthy prostate tissue samples for their DNA methylation levels at 26,333 CpGs representing 14,104 gene promoters by using the Illumina HumanMethylation27 platform. When the profiles of the prostate tissue samples were compared, I observed a substantial number of tumor-specific DNA methylation alterations. A 2-class Significance Analysis of this dataset revealed 5,912 CpG sites with increased DNA methylation and 2,151 CpG sites with decreased DNA methylation in tumors (FDR < 0.8%). Prediction Analysis of this dataset identified 87 CpGs that are the most predictive diagnostic methylation biomarkers of prostate cancer. By integrating available clinical follow-up data, I also identified 69 prognostic DNA methylation alterations that correlate with biochemical recurrence of the tumor. To identify the mechanisms responsible for these genome-wide DNA methylation alterations, I measured the gene expression levels of several DNA methyltransferases (DNMTs) and their interacting proteins by TaqMan qPCR and observed increased expression of DNMT3A2, DNMT3B, and EZH2 in tumors. Subsequent transient transfection assays in cultured primary prostate cells revealed that DNMT3B1 and DNMT3B2 overexpression resulted in increased methylation of a substantial subset of CpG sites that also showed tumor-specific increased methylation.
  • 2006 Springer
    Balajee, Adayabalam S.
    Human premature aging disorders and dysfunction of DNA repair / Byungchan Ahn and Vilhelm A. Bohr -- DNA repair aspects for RecQ helicase disorders / Takehisa Matsumoto -- Trichothiodystrophy: a disorder highlighting the crosstalk between DNA repair and transcription / Miria Stefanini -- Roles of the BRCA1 and BRCA2 breast cancer susceptibility proteins in DNA repair / Katrin Gudmundsdottir, Emily Witt and Alan Ashworth -- Radiosensitivity of cells derived from Down syndrome patients: is defective DNA repair involved? / Adayapalam T. Natarajan -- The Fanconi anemia/BRCA pathway: FANCD2 at the crossroad between repair and checkpoint responses to DNA damage / Massimo Bogliolo and Jordi Surrallés -- Is ataxia telangiectasia a result of impaired coordination between DNA repair and cell cycle checkpoint regulators? / Adayabalam S. Balajee and Charles R. Geard -- Mechanisms of DNA damage and repair in Alzheimer disease / V. Prakash Reddy ... [et al.] -- Orchestration of telomeres and DNA repair factors in mammalian cells: implications for cancer and ageing / M. Prakash Hande -- Defective solar protection in xeroderma pigmentosum and Cockayne syndrome patients / Colette ApRhys and Daniel Judge.
    Also available: Print – 2006
  • 2008 Springer Protocols
    Li, Shulin.
    Pt. I. Basic concepts of DNA transfer via electroporation. Application of electroporation gene therapy: past, current, and future / Lluis M. Mir -- Mechanism by which electroporation mediates DNA migration and entry into cells and targeted tissues / Marie-Pierre Rols -- Applicator and electrode design for in vivo DNA delivery by electroporation / Dietmar Rabussay -- Electrode assemblies used for electroporation of cultured cells / Leda Raptis and Kevin L. Firth -- Formulations for DNA delivery via electroporation in vivo / Khursheed Anwer -- Overview of drug delivery and alternative methods to electroporation / Sek-Wen Hui -- Nanoelectroporation: a first look / Raji Sundararajan -- Pt. II. In vitro targeted gene delivery via electroporation. Nucleofection of human embryonic stem cells / Henrike Siemen ... [et al.] -- Delivery of whole tumor lysate into dendritic cells for cancer vaccination / Linda N. Liu ... [et al.] -- Delivery of tumor-antigen-encoding mRNA into dendritic cells for vaccination / Annelies Michiels ... [et al.] -- Delivery of DNA into natural killer cells for immunotherapy / Kathrin Schoenberg, Hans-Ingo Trompeter, and Markus Uhrberg -- Electroporation of adherent cells in situ for the study of signal transduction and gap junctional communication / Leda Raptis ... [et al.] -- Delivery of DNA into adipocytes within adipose tissue / James G. Granneman -- Pt. III. In vivo targeted gene delivery via electroporation. Delivery of DNA into muscle for treating systemic diseases: advantages and challenges / Capucine Trollet, Daniel Scherman, and Pascal Bigey -- Delivery of DNA into skeletal muscle in large animals / Patricia A. Brown, Amir S. Khan, and Ruxandra Draghia-Akli -- Delivery of DNA into skin via electroporation / Babu M. Medi and Jagdish Singh -- Electroporation-mediated gene delivery to the lungs / Rui Zhou, James E. Norton, and David A. Dean -- Delivery of DNA into bladder via electroporation / Masaki Yoshida ... [et al.] -- Analysis of gene function in the retina / Takahiko Matsuda and Constance L. Cepko -- Optical in vivo imaging of electrically mediated delivery of siRNA into muscle for gene function analysis / Muriel Golzio and Justin Teissie -- Electroporation of adult zebrafish / N. Madhusudhana Rao, K. Murali Rambabu, and S. Harinarayana Rao -- Pt. IV. Treatment of cancer via electroporation gene therapy. Flow electroporation with pulsed electric fields for purging tumor cells / Abie Craiu and David Scadden -- Delivery of DNA into tumors / Shulin Li -- Intraturmoral bieomycin and IL-12 electrochemogenetherapy for treating head and neck tumors in dogs / Jeffry Cutrera ... [et al.] -- Systemic IL-12 gene therapy for treating malignancy via intramuscular electroporation / Shiguo Zhu and Shulin Li -- Treatment of SCCVII tumors with systemic chemotherapy and interleukin-12 gene therapy combination / Marina Torrero and Shulin Li -- Electroporation for drug and gene delivery in the cliic: doctors go electric / Julie Gehl -- IL-2 plasmid electroporation: from preclinical studies in phase I clinical trial / Holly M. Horton, Peggy A. Lalor, and Alain P. Rolland -- Pt. V. Treatment of other diseases via electroporation gene therapy. Factor IX gene therapy for hemophilia / James G. Fewell -- KGF-1 for wound healing in animal models / Guy P. Marti ... [et al.] -- Hapatocyte growth factor gene therapy for hypertension / Kazuo Komamura ... [et al.] -- Electroporation of corrective nucleic acids (CNA) in vivo to promote gene correction in dstrophic muscle / Robert M.I. Kapsa, Sharon H.A. Wong, and Anita F. Quigley -- Gene delivery to dystrophic muscle / Kim E. Wells ... [et al.] -- Effect of electroporation on cardiac electrophysiology / Vadim V. Fedorov, Vladimir P. Nikolski, and Igor R. Efimov -- Muscle and fat mass modulation in different clinical models / Ruxandra Draghia-Akli and Amir S. Khan -- Pt. VI. Applications of electroporation for DNA vaccination. DNA vaccination for prostate cancer / Anna-Karin Roos, Alan King, and Pavel Pisa -- HER2/neu DNA vaccination for breast tumors / Arianna Smorlesi ... [et al.] -- Electroporation-mediated HBV DNA vaccination in primate models / Yong-Gang Zhao and Yuhong Xu -- Taking electroporation-based delivery of DNA vaccination into humans: a generic clinical protocol / Torunn Elisabeth Tjelle ... [et al.] -- Production of monoclonal antibody by DNA immunization with electroporation / Kaw Yan Chua, John D.A. Ramos, and Nge Cheong.
  • 2012 ClinicalKey
    Adkison, Linda R.
    This concise, high-yield title in the popular Integrated Review Series focuses on the core knowledge in genetics while linking that information to related concepts from other basic science disciplines. Case-based questions at the end of each chapter enable you to gauge your mastery of the material, and a color-coded format allows you to quickly find the specific guidance you need. This concise and user-friendly reference provides crucial guidance for the early years of medical training and USMLE preparation. Effectively review for problem-based courses with the help of text boxes that help you clearly see the clinical relevance of the material.
  • 2013 ScienceDirect
    2013 ClinicalKey
    Emery, Alan E. H.; Korf, Bruce R.; Pyeritz, Reed E.; Rimoin, David L.
    For decades, Emery & Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this sixth edition bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders.
  • v. 1-3, 2007.
    Emery, Alan E. H.; Rimoin, David L.
    PrintStatus: Not Checked OutLane Catalog Record
  • 2012 ClinicalKey
    Turnpenny, Peter D.; Ellard, Sian.
    Master the genetics you need to know with the updated 14th Edition, by Drs. Peter Turnpenny and Sian Ellard. Review the field's latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, end-of-chapter summaries, and convenient.
  • 2007
    Turnpenny, Peter D.; Ellard, Sian; Emery, Alan E. H.
    PrintStatus: Not Checked OutLane Catalog Record
    The history and impact of genetics in medicine -- The cellular and molecular basis of inheritance -- Chromosomes and cell division -- DNA technology and applications -- Mapping and identifying genes for monogenic disorders -- Developmental genetics -- Patterns of inheritance -- Mathematical and population genetics -- Polygenic and multifactorial inheritance -- Hemoglobin and the hemoglobinopathies -- Biochemical genetics -- Pharmacogenetics -- Immunogentics -- Cancer genetics -- Genetic factors in common diseases -- Congenital abnormalities and dysmorphic syndromes -- Genetic counseling -- Chromosome disorders -- Single-gene disorders -- Screening for genetic disease -- Prenatal testing and reproductive genetics -- Risk calculation -- Treatment of genetic disease -- Ethical and legal issues in medical genetics.
  • 2012 Springer
    Choi, Sangdun.
  • 2006 Springer
    Ganten, D.; Ruckpaul, Klaus.
    v. 1. A-L -- v. 2. M-Z.
  • 2011 Springer
    Bronner, Felix; Oreffo, Richard O. C.; Roach, Helmtrud I.
    Epigenetics and chronic diseases : an overview / Rebecca Smith, Jonathan Mill -- Techniques to study DNA methylation and histone modification / Ester Lara ... [et al.] -- Mechanisms of epigenetic gene silencing / Marie-Pierre Lambert, Zdenko Herceg -- Mechanisms of epigenetic gene activation in disease : dynamics of DNA methylation and demethylation / Thierry Granbe, Edio Eligio Lourenco -- The role of histone demethylases in disease / Paul Cloos -- Autoimmune diseases / Travis Hughes, Amr H. Sawalha -- Epigenetics of rheumatoid arthritis / Aleksander M. Grabiec, Paul P. Tak, Kris A. Reedquist -- DNA methylation changes in osteoarthritis / Helmtrud I. Roach -- Epigenetics and Type 2 diabetes / Charlotte Ling, Tina Ronn, Marloes Dekker Nitert -- Epigenetic regulation of asthma and allergic diseases / Andrew L. Durham, Ivan M. Adcock -- Epigenetics in psychiatry / Hamid Mostafavi-Abdolmaleky, Stephen J. Glatt, Ming T. Tsuang -- Epigenetics and late-onset Alzheimer's disease / Axel Schumacher, Syed Bihaqi, Nasser H. Zawia -- Epigenetic mechanisms in the developmental origins of adult disease / Keith M. Godfrey ... [et al.] -- Targeting histone deacetylases in chronic obstructive pulmonary disease / Peter J. Barnes -- Clinical trials of epigenetic modifiers in the treatment of myelodysplastic syndrome / Lauren C. Suarez, Steven D. Gore.
  • 2015 ScienceDirect
    Gray, Steven G.
    Ch. 1. Introduction -- Ch. 2. DNA methylation and hydroxymethylation in cancer -- Ch. 3. Writers, readers and erasers of epigenetic marks -- Ch. 4. MicroRNAs and cancer -- Ch. 5. Long noncoding RNAs and cancer -- Ch. 6. Ribosomal RNA methylation and cancer -- Ch. 7. Mining the epigenetic landscape: surface mining or deep underground -- Ch. 8. Development of epigenetic targeted therapies in hematological malignancies: from serendipity to synthetic leathality -- Ch. 9. Epigenetic therapy in lung cancer and mesothelioma -- Ch. 10. Breast cancer epigenetics -- Ch. 11. Therapeutic applications of the prostate cancer epigenome -- Ch. 12. Liver cancer (hepatocellular carcinoma) -- Ch. 13. Neuroblastoma -- Ch. 14. The epigenetics of medulloblastoma -- Ch. 15. Clinical significance of epigenetic alterations in glioblastoma -- Ch. 16. Esophageal cancer -- Ch. 17. Nasopharyngeal cancer -- Ch. 18. Nutritional epigenetic regulators in the field of cancer: new avenues for chemopreventive approaches -- Ch. 19. Emerging epigenetic therapies: lysine methyltransferase/PRC complex inhibitors -- Ch. 20. Inhibitors of Jumonji C-Domain histone demethylases -- Ch. 21. Emergine epigenetic therapies: lysine acetyltransferase inhibitors -- Ch. 22. Emerging epigenetic therapies: bromodomain ligands -- Ch. 23. Clinical trials -- Ch. 24. Genetic intratumor heterogeneity -- Ch. 25. Epigenetics underpinning DNA damage repair -- Ch. 26. Epigenetics of cisplatin resistance -- Ch. 27. Therapeutically targeting epigenetic regulation of cancer stem cells -- Ch. 28. Personalized epigenetic therapy: chemosensitivity testing -- Ch. 29. Personalized therapy: epigenetic profiling as predictors of prognosis and response -- Index.
  • 2011 Springer
    Ballestar, Esteban.
    An introduction to epigenetics / Esteban Ballestar -- Chromatin mechanisms regulating gene expression in health and disease / Constanze Bonifer and Peter N. Cockerill -- Epigenetic control of lymphocyte differentiation / Eduardo Lopez-Granados -- Epigenetic control in immune function / Peter J. van den Elsen, Marja C.J.A. van Eggermond, and Rutger J. Wierda -- DNA methylation and B-cell autoreactivity / Soizic Garaud, Pierre Youinou, and Yves Renaudineau -- Environmental agents and autoimmune diseases / Frederick W. Miller -- Epigenetic dysregulation of Epstein-Barr virus latency and development of autoimmune disease / Hans Helmut Niller ... [et al.] -- Does genomic imprinting play a role in autoimmunity? / Cristina Camprubø and David Monk -- A new epigenetic challenge : systemic lupus erythematosus / Biola M. Javierre and Bruce C. Richardson -- Epigenetic deregulation in rheumatoid arthritis / Emmanuel Karouzakis ... [et al.] -- Prospects for epigenetic compounds in the treatment of autoimmune disease / Nadine Chapman-Rothe and Robert Brown -- Profiling epigenetic alterations in disease / Josø Ignacio Martøn-Subero and Manel Esteller.
    Also available: Print – 2011
  • 2012 Springer
    Michels, Karin B.
    Human epigenome -- Considerations in the design, conduct, and interpretation of studies in epigenetic epidemiology -- Laboratory methods in epigenetic epidemiology -- Biostatistical methods in epigenetic epidemiology -- Epigenome changes during development -- Role of epigenetics in the development origins of health and disease -- Epigenetics and assisted reproductive technology -- Imprinting disorders of early childhood -- Utility of twins for epigenetic analysis -- Age-related variation in DNA methylation -- Influence of environmental factors on the epigenome -- Epigenetic epidemiology of cancer -- Epigenetic epidemiology of infectious diseases -- Epigenetic epidemiology of inflammation and rhematoid arthritis -- Asthma epigenetics : emergnece of a new paradigm? -- Epigenetic epidemiology of autism and other neurodevelopmental disorders -- Epigenetic epidemiology psychiatric disorders -- Epigenetic epidemiology of type 1 diabetes -- Epigenetic epidemiology of obesity, type 2 diabetes -- Epigenetic epidemiology of atherosclerosis.
  • 2014 CRCnetBASE
    Ayyanathan, Kasirajan.
    1. Epigenetics of host-pathogen interactions : the road ahead and the road behind / Elena Gm̤ez-Da̕z, Mireia Jord,̉ Miguel Angel Peinado, and Ana Rivero -- 2. A concise review on epigenetic regulation : insight into molecular mechanisms / Shahram Golbabapour, Mahmood Ameen Abdulla, and Maryam Hajrezaei -- 3. Genome-wide analysis of DNA methylation in human amnion / Jinsil Kim, Mitchell M. Pitlick, Paul J. Christine, Amanda R. Schaefer, Cesar Saleme, Belň Comas, Viviana Cosentino, Enrique Gadow, and Jeffrey C. Murray -- 4. Assessing causal relationships in genomics : from Bradford-Hill criteria to complex gene-environment interactions and directed acyclic graphs / Sara Geneletti, Valentina Gallo, Miquel Porta, Muin J. Khoury, and Paolo Vineis -- 5. The biology of lysine acetylation integrates transcriptional programming and metabolism / Jigneshkumar Patel, Ravi R. Pathak, and Shiraz Mujtaba -- 6. Roles of histone deacetylases in epigenetic regulation : emerging paradigms from studies with inhibitors / Geneviv̈e P. Delcuve, Dilshad H. Khan, and James R. Davie -- 7. Aberrant epigenetic silencing is triggered by a transient reduction in gene expression / Jon A. Oyer, Adrian Chu, Sukhmani Brar, and Mitchell S. Turker -- 8. The sound of silence : RNAi in poly (ADP-Ribose) research / Christian Blenn, Philippe Wyrsch, and Felix R. Althaus -- 9. Epigenetic deregulation of microRNAs in rhabdomyosarcoma and neuroblastoma and translational perspectives / Paolo Romania, Alice Bertaina, Giorgia Bracaglia, Franco Locatelli, Doriana Fruci, and Rossella Rota -- 10. Epigenetic effects of environmental chemicals bisphenol A and phthalates / Sher Singh and Steven Shoei-Lung Li -- 11. The influence of DNA sequence on epigenome-induced pathologies / Richard B. Meagher and Kristofer J. M¿ssar -- 12. Next generation sequencing based approaches to epigenomics / Martin Hirst and Marco A. Marra -- 13. Design and analysis issues in gene and environment studies / Chen-Yu Liu, Arnab Maity, Xihong Lin, Robert O. Wright, and David C. Christiani.
  • 2012 ScienceDirect
    Tollefsbol, Trygve O.
    Epigenetics of human disease / Trygve O. Tollefsbol -- Methods and strategies to determine epigenetic variation in human disease / Yoshihisa Watanabe and Masato Maekawa -- DNA methylation alterations in human cancers / Yae Kanai and Eri Arai -- Alterations of histone modifications in cancer / Ciro Mercurio, Simon Plyte and Saverio Minucci -- MicroRNA in oncogenesis / Niamh Lynam-Lennon, Steven G. Gray and Stephen G. Maher -- Epigenetic approaches to cancer therapy / Sabita N. Saldanha and Trygve O. Tollefsbol -- Epigenomics in neurobehavioral diseases / Cassandra L. Smith and Kai Huang -- Emerging role of epigenetics in human neurodevelopmental disorders / K. Naga Mohan and J. Richard Chaillet -- The epigenetics of Alzheimer's disease / Fabio Coppedè -- Epigenetic modulation of human neurobiological disorders / Takeo Kubota ... [et al.] -- Epigenetic basis of autoimmune disorders in humans / Biola M. Javierre, Lorenza de la Rica and Esteban Ballestar -- Approaches to autoimmune disease using epigenetic therapy / Christopher Chang -- Epigenetic mechanisms of human imprinting disorders / Richard H. Scott and Gudrun E. Moore -- Epigenetic factors in human obesity / Christopher G. Bell -- Epigenetic approaches to control obesity / Abigail S. Lapham ... [et al.] -- Epigenetics of diabetes in humans / Charlotte Ling and Tina Rönn -- The potential of epigenetic compounds in treating diabetes / Steven G. Gray -- Epigenetic aberrations in human allergic diseases / Manori Amaraseka ... [et al.] -- Therapy of airway disease: epigenetic potential / Peter J. Barnes -- The role of epigenetics in cardiovascular disease / Boda Zhou, Andriana Margariti and Qingbo Xu -- Epigenetics and human infectious diseases / Hans Helmut Niller and Janos Minarovits -- The epigenetics of endometriosis / Sun-Wei Guo -- Aberrant DNA methlylation in endometrial cancer / Kenta Masuda ... [et al.] -- Stem cell epigenetics and human disease / Mehdi Shafa and Derrick E. Rancourt -- Non-coding RNA regulatory networks, epigenetics, and programming stem cell renewal and differentiation: implications for stem cell therapy / Rajesh C. Miranda -- Aging and disease: the epigenetic bridge / Andrea Fuso -- Early-life epigenetic programming of human disease and aging / Alexander M. Vaiserman.
  • 2009 Springer
    Ferguson-Smith, Anne C.; Greally, John M.; Martienssen, Robert A.
  • 2006
    Hartl, Daniel L.; Jones, Elizabeth W.
    PrintStatus: Not Checked OutLane Catalog Record
    The genetic code of genes and genomes -- Transmission genetics: heritage from Mendel -- The chromosomal basis of heredity -- Gene linkage and genetic mapping -- Human chromosomes and chromosome behavior -- DNA structure, replication, and manipulation -- The genetics of bacteria and their viruses -- The molecular genetics of gene expression -- Molecular mechanisms of gene regulation -- Genomics, proteomics, and genetic engineering -- The genetic control of development -- Molecular mechanisms of mutation and DNA repair -- Molecular genetics of the cell cycle and cancer -- Molecular evolution and population genetics -- The genetic basis of complex inheritance.
  • 2010 ScienceDirect
    Ginsburg, Geoffrey S.; Willard, Huntington F.
    The foundations of genomic and personalized medicine -- Section 1. Basics -- Organization, variation and expression of the human genome -- DNA sequencing for the detection of human genome variation -- Genome-wide association studies and genotyping technologies -- Copy number variation and human health -- DNA methylation analysis: providing new insight into human disease -- DNA microarrays in biological discovery and patient care -- Proteomics: the deciphering of the functional genome -- Comprehensive metabolic analysis for understanding of disease -- Section 2. Informatics -- Bioinformatic and computational analysis for genomic medicine -- Systems biology and systems medicine -- Electronic medical records in genomic medicine practice and research -- Online health information retrieval by consumers -- Section 3. Translational -- Translational genomics: from discovery to clinical practice -- Pharmacogenetics and pharmacogenomics -- Clinical implementation of translational genomics -- The role of genomics in enabling prospective health care -- Genome policy considerations for genomic medicine -- Federal regulation of genomic medicine -- Economic issues and genomic medicine -- Public health genomics. Section 4. Clinical (cardiology) -- The genomics of hypertension -- Lipoprotein disorders -- Genomics of myocardial infarction -- Acute coronary syndromes -- Heart failure in the era of genomic medicine -- Genomic assessment of cardiac transplant rejection -- Genetics and genomics of hypertrophic cardiomyopathy -- Genetics and genomics of arrhythmias -- Genetics and genomics in the management of hemostasis and thrombosis -- Genomics of congenital heart disease -- Section 5. Clinical (oncology) -- Genomics in the management of lymphomas -- Genomics in leukemias -- Genomics in the diagnosis and management of lung cancer -- Genomics in the diagnosis and management of breast cancer -- Colorectal cancer -- Genomic evaluation and management of prostate cancer -- Genomic assessment of ovarian cancer -- Genomic evaluation of pancreatic neoplasms -- Genomic evaluation of head and neck cancer -- Genomic evaluation of brain tumors and gliomas -- Targeted therapies for cancer. Section 6. Clinical (inflammatory disease) -- Genomics in the evaluation and management of rheumatoid arthritis -- Genomic evaluation of multiple sclerosis -- Genomic assessment of inflammatory bowel disease -- Asthma genomics -- Genomics in the evaluation and management of chronic obstructive pulmonary disease -- Genetics and genomics of interstitial lung disease -- Peptic ulcer disease -- Section 7. Clinical (metabolic disease) -- Genomics in pathogenesis of cirrhosis -- Genomic medicine and obesity -- Diabetes -- Section 8. Clinical (neurological disease) -- Genetics and genomics of dementia -- Genetics and genomics of Parkinson's disease -- Genomic considerations in ophthalmology -- Genomics in the diagnosis and management of depression -- Section 9. Clinical (infectious disease) -- Genomic approaches to the host response to pathogens -- Host genomics and bacterial infections -- Genomics in the evaluation and management of sepsis -- Genomics and the management of hepatitis.
  • 2011 Springer
    Fischmann, Tamara; Hildt, Elisabeth.
    Ethical Dilemmas Due to Prenatal and Genetic Diagnostics: An Interdisciplinary, European Study (EDIG, 2005-2008) / Marianne Leuzinger-Bohleber -- Managing Complex Psychoanalytic Research Projects Applying Mapping Techniques - Using the Example of the EDIG Study / Nicole Pfenning-Meerkötter -- Distress and Ethical Dilemmas Due to Prenatal and Genetic Diagnostics - Some Empirical Results / Tamara Fischmann -- Reconstruction of Pregnant Women's Subjective Attitudes Towards Prenatal Diagnostics - A Qualitative Analysis of Open Questions / Katrin Luise Läzer -- Prenatal Testing: Women's Experiences in Case of a Conspicuous Test Result / Elisabeth Hildt -- Caring for Women During Prenatal Diagnosis: Personal Perspectives from the United Kingdom / Helen Statham and Joanie Dimavicius -- Cooperation Is Rewarding If the Boundary Conditions Fit: Interdisciplinary Cooperation in the Context of Prenatal Diagnostics / Astrid Riehl-Emde, Anette Bruder, Claudia Pauli-Magnus, and Vanessa Sieler -- Prenatal Genetic Counselling: Reflections on Drawing Policy Conclusions from Empirical Findings / Anders Nordgren -- Taking Risk in Striving for Certainty. Discrepancies in the Moral Deliberations of Counsellors and Pregnant Women Undergoing PND / László Kovács -- Ethical Thoughts on Counselling and Accompanying Women and Couples Before, During and After Prenatal Diagnosis / Dierk Starnitzke -- Client, Patient, Subject; Whom Should We Treat? On the Significance of the Unconscious in Medical Care and Counselling / Yair Tzivoni -- Decision to Know and Decision to Act / Regina Sommer -- Moral Decision-Making, Narratives and Genetic Diagnostics / Göran Collste -- Prenatal Diagnostics and Ethical Dilemmas in a Mother Having a Child with Down Syndrome / Maria Samakouri, Evgenia Tsatalmpasidou, Konstantia Ladopoulou, Magdalini Katsikidou, Miltos Livaditis, and Nicolas Tzavaras -- Is There One Way of Looking at Ethical Dilemmas in Different Cultures? / Stephan Hau.
  • 2005 ebrary
    Stern, Alexandra.
    Introduction -- 1. Race betterment and tropical medicine in imperial San Francisco -- 2. Quarantine and eugenic gatekeeping on the U.S-Mexico border -- 3. Instituting eugenics in California -- 4. California's eugenic landscapes -- 5. Centering eugenics on the family -- 6. Contesting hereditarianism: reassessing the 1960s -- Epilogue.
    Also available: Print – 2005
  • 2011 Springer
    Forsdyke, Donald R.
    Pt. 1. Information and DNA -- pt. 2. Parity and non-parity -- pt. 3. Variation and speciation -- pt. 4. Conflict with genomes -- pt. 5. Conflict between genomes -- pt. 6. Sex and error-correction -- pt. 7. Information and mind.
  • 2010
    Goode, David; Bustamante, Carlos; Petrov, Dmitri A.; Sidow, Arend; Tang, Hua.
    I demonstrate how comparative sequence analysis facilitates genome-wide base-pair level interpretation of individual genetic variation, and address three questions of importance for human personal genomics: First, whether an individual's functional variation comes mostly from noncoding or coding polymorphisms; second, whether population-specific or globally present polymorphisms contribute more to functional variation in any given individual; third what is the functional impact of short insertions and deletions in an individual genome. These questions have not been definitively answered by analyses of existing variation data because of a focus on coding polymorphisms, ascertainment biases in favor of common variation, and a lack of base-pair level resolution for identifying functional variants. The data set used in this study consisted of 575 amplicons resequenced in 432 individuals at genomic sites enriched for evolutionary constraint, and variation from 5 published human genomes. Single-site measures of evolutionary constraint derived from mammalian multiple sequence alignments are strongly predictive of reductions in modern-day genetic diversity across a range of annotation categories and across the allele frequency spectrum. I show that putatively functional variation in an individual genome is dominated by polymorphisms that do not change protein sequence, and which originate from our shared ancestral population and commonly segregate in human populations. Furthermore, I demonstrate that selection against short human indels has been shaped by patterns of evolutionary constraint, belying their potential functional importance. These observations show that common, noncoding alleles contribute substantially to human phenotypes and that constraint-based analyses will be of tremendous value to identify phenotypically-relevant variants in individual genomes.
  • 2010
    Salari, Keyan; Ford, James M.; Pollack, Jonathan R.; Sherlock, Gavin; Sidow, Arend.
    Advances in genomic technologies have allowed investigators to survey diverse molecular properties of cancer cells including DNA copy number alterations, RNA transcript abundance, and protein-DNA binding events. While each data type offers a unique snapshot of the tumor cell, an integrated analysis of two or more complementary data types can reveal much more than the sum of its parts. In this dissertation, I describe new integrative genomic methodologies and novel biologic insights gleaned from their application. In one such analysis of 52 breast cancer cell lines, we identify genomic alterations and gene-expression profiles that largely resemble those identified in primary breast tumors, therefore defining relevant tumor models of breast cancer subtypes. Additionally, we identify 80 high-level DNA amplifications and 13 multi-copy deletions, harboring known and novel cancer genes, thereby providing a rich resource for new breast cancer gene discovery and characterization. In an integrative analysis of colorectal cancers, we unveil a region of amplification highly specific to colorectal-derived tumors. We identify and characterize caudal type homeobox transcription factor 2 (CDX2), a master regulator of intestinal cell survival and differentiation, as the target gene of this amplification, and show a CDX2 amplification-specific dependency for tumor cell survival, proliferation, and anchorage-independent growth. Moreover, by integrating protein-DNA binding and gene expression data, we uncover a novel relationship between CDX2 and Wnt/[beta]-catenin signaling. Taken together, these data show that for a subset of colorectal-derived tumors, cell survival and proliferation are dependent on the abnormal amplification and overexpression of CDX2, thereby characterizing CDX2 as a novel lineage-survival oncogene in colorectal cancer. In the last portion of the dissertation, I reflect on how the rapidly growing knowledgebase of genetic associations with disease and drug response will help usher in a new era of personalized medicine. To help prepare for a future that includes an array of available genomic laboratory tests, I discuss the necessity to reform medical school curricula to educate students about the interpretation, limitations, and impact of genomic testing in clinical medicine. I describe the challenges and considerations relevant to the development of a novel educational curriculum that includes personal genomic testing.
  • 2010 Springer
    Altarescu, Gheona; Beck, Michael; Elstein, Deborah.
  • 2010 Springer
    Wallace, Rodrick; Wallace, Deborah.
  • 2012 Springer
    Ahituv, Nadav.
    Gene regulatory elements / Nadav Ahituv -- Hemoglobin regulatory regions / Betty S. Pace and Levi H. Makala -- Regulatory polymorphisms and osteoporosis / Huilin Jin and Stuart H. Ralston -- Gene regulation in Van Buchem disease / Gabriela G. Loots -- Cis-regulatory enhancer mutations are a cause of human limb malformations / Julia E. VanderMeer and Nadav Ahituv -- Regulatory mutations leading to cleft lip and palate / Brian C. Schutte, Walid D. Fakhouri and Daniel Zemke -- Cis-regulatory disruption at the SOX9 locus as a cause of Pierre Robin sequence / Christopher T. Gordon, Sabina Benko, Jeanne Amiel and Stanislas Lyonnet -- Regulatory mutations in human hereditary deafness / Jonathan E. Bird and Thomas B. Friedman -- Contributions of RET noncoding variation to Hirschsprung disease / Zachary E. Stine and Andrew S. McCallion -- Cis-regulatory variation and cancer / Nora F. Wasserman and Marcelo A. Nobrega -- Cohesin and human diseases / Dongbin Xu and Ian D. Krantz -- Epigenetics and human disease / Angeliki Magklara and Stavros Lomvardas.
  • 2006 ScienceDirect
    Niewöhner, Jörg; Tannert, Christof.
    Also available: Print – 2006
  • 2007 Springer
    Hunt, Kelly K.; Swisher, Stephen G.; Vorburger, Stephan A.
    Adenovector-mediated cancer gene therapy / Bingliang Fang and Jack A. Roth -- Efficacy, toxicity, and immunogenicity of adenoviral vectors / Dmitry M. Shayakhmetov -- Lentiviral and retroviral vector systems / Renata Stripecke and Noriyuki Kasahara -- Vaccinia and pox-virus / Sricharan Chalikonda and David L. Bartlett -- Herpes simplex virus as a therapy for cancer / Ian J. Mohr -- Alphavirus vectors for gene therapy applications / Kenneth Lundstrom -- Vesicular stomatitis virus and RNA viruses as gene therapy vectors / Glen N. Barber -- Parvovirus vectors / Selvarangan Ponnazhagan -- Nonviral vector systems / Pui-yan Lee and Leaf Huang -- Oncogenes, tumor suppressor genes, and apoptosis-inducing genes utilized in cancer gene therapy / Lidong Zhang and Bingliang Fang -- Gene silencing therapy against cancer / Chao-Zhong Song -- Tumor targeting-retargeted adenovirus / Masato Yamamoto and David T. Curiel -- Oncolytic herpes simplex for gene therapy in preclinical and clinical trials / Richard H. Pin ... [et al.] -- Cytokine gene therapy for genitourinary cancer / Terry L. Timme ... [et al.] -- Combination of gene therapy with radiation / Anupama Munshi and Raymond E. Meyn -- Gene transfer for chemoprotection and enrichment of hematopoietic stem cells / Justin C. Roth and Stanton L. Gerson -- Nonviral genetic vaccines for cancer / Steven R. Little, Daniel G. Anderson, and Robert Langer -- Gene therapy targeted at angiogenesis and lymphangiogenesis for cancer treatment / Anita T. Tandle and Steven K. Libutti -- Tumor-specific replicating adenoviruses : delta 24 for human gliomas / Giacomo G. Vecil, Juan Fueyo, and Frederick F. Lang -- Problems, side effects, and disappointments in clinical cancer gene therapy / Ta-Chiang Liu and David H. Kirn -- Trials and tribulations in developing clinical trials of gene therapy : E1A for breast or ovarian cancer / Naoto T. Ueno ... [et al.] -- Phase I clinical experience with intravenous administration of PV701, an oncolytic virus / Andrew L. Pecora and Robert M. Lorence -- MDA-7/IL-24 as a multi-modality therapy for cancer / Sunil Chada ... [et al.] -- Development of therapeutic genes for breast cancer treatment / Mien-Chie Hung and Duen-Hwa Yan -- Steps in a translational cancer gene therapy trial / Urs W. von Holzen and Stephen G. Swisher.
    Also available: Print – 2007
  • 2005 Springer
    Prud'homme, Gérald J.
    Gene therapy approaches for autoimmune diseases of the central nervous system and other tissues / Roberto Furlan ... [et al.] -- Gene therapeutics in autoimmune diabetes / Jon D. Piganelli, Massimo Trucco, and Nick Giannoukakis -- Immunogene therapy with nonviral vectors / Ciriaco A. Piccirillo, Argyrios N. Theofilopoulos, and Gérald J. Prud'homme -- Targeting antigen-specific T cells for gene therapy of autoimmune disease / Justin M. Johnson and Vincent K. Tuohy -- Therapeutic gene transfer for rheumatoid arthritis / Natacha Bessis and Marie-Christophe Boissier -- Gene therapy-based approach for immune tolerance induction using recombinant immunoglobulin carriers / Moustapha El-Amine ... [et al.] -- DNA vaccination against autoimmune diseases / Gérald J. Prud'homme ... [et al.].
    Also available: Print – 2005
  • 2009 Karger
    Ryan, Allen F.
    Gene therapy for the inner ear : challenges and promises / Ryan, A.F., Dazert, S. -- Therapeutic regulation of gene expression in the inner ear using RNA interference / Maeda, Y., Smith, R.J.H. -- Gene therapy of the inner ear using adenovirus vectors / Husseman, J., Raphael, Y. -- Repair of the vestibular system via adenovector delivery of Atoh1 : a potential treatment for balance disorders / Baker, K., Brough, D.E., Staecker, H. -- Gene therapy and stem cell transplantation : strategies for hearing restoration / Kesser, B.W., Lalwani, A.K. -- Adenoviral and AAV-mediated gene transfer to the inner ear : role of serotype, promoter, and viral load on in vivo and in vitro infection efficiencies / Luebke, A.E. ... [et al.].
    Also available: Print – 2009
  • 2006 ScienceDirect
    During, Matthew J.; Kaplitt, Michael G.
  • 2010 Springer
    Roth, Jack A.
  • 2002 MyiLibrary
    King, Richard A.; Motulsky, Arno G.; Rotter, Jerome I.
    Also available: Print – 2002
  • 2013 Springer
    Camerini, F.; Mestroni, Luisa; Sinagra, Gianfranco.
  • 2014 Oxford Medicine Online
    MacFarlane, 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 Springer
    Baldi, 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
  • 2010 ScienceDirect
    2010 ClinicalKey
    Refetoff, 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
    Kumar, Dhavendra.
    PrintStatus: Not Checked OutLane Catalog Record
    "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]
  • 2009 Springer Protocols
    Teare, 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 Protocols
    Teare, 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 Karger
    Cremers, C. W. R. J.; Smith, R.
    Also available: Print – 2002
  • 2006 ScienceDirect
    Ashizawa, 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 Bookshelf
    Dean, Laura; McEntyre, Johanna.
  • 2003 Wellcome Trust
    Christie, D. A.; Tansey, E. M.
  • 2012 Springer
    Green, 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.
  • 2012 Karger
    Piguet, 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.
  • 2010 Springer
    Dunwoodie, Sally L.; Kusumi, Kenro.
  • 2014 Karger
    Gloyn, 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 Karger
    Kohl, 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 Springer
    Suhre, Karsten.
  • 2014 ScienceDirect
    Steinlein, Ortrud K.
  • 2007 Springer
    Carrell, 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.
  • 2010 Karger
    Knight, 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 ScienceDirect
    Pulst, Stefan-M.
  • 2006. Karger
    Volff, 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.].

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