BookPeter Igaz, Attila Patócs, editors.
Summary: This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
Contents:
Intro; Preface; Contents; Editors and Contributors; List of the Most Commonly Used Abbreviations; Part I: Basics of Genetics;
Chapter 1: Basic Concepts of Genetics; 1.1 Introduction; 1.2 Basic Terms of Genetics; 1.3 Mutations; 1.4 Chromosomes; 1.5 Proto-oncogenes and Tumor Suppressors; 1.6 DNA Variations; 1.7 Epigenetics; References;
Chapter 2: Brief Description of Inheritance Patterns; 2.1 Introduction; 2.2 Autosomal Dominant Inheritance; 2.3 Autosomal Recessive Inheritance; 2.4 X-Linked Dominant Inheritance; 2.5 X-Linked Recessive Inheritance; 2.6 Conclusions; References 6.3 The Glucocorticoid Signaling Pathway; 6.4 Primary Generalized Glucocorticoid Resistance (PGGR) or "Chrousos Syndrom"; 6.5 Beyond NR3C1 Genetic Defects; 6.6 NR3C1 Polymorphisms; 6.7 Concluding Remarks; References; Part III: Endocrine Diseases Inherited as Monogenic Traits: Hereditary Diseases Predisposing to Endocrine Tumors;
Chapter 7: Overview of Genetically Determined Diseases/Multiple Endocrine Neoplasia Syndromes Predisposing to Endocrine Tumors; 7.1 Introduction; 7.2 Multiple Endocrine Neoplasia Syndromes; 7.2.1 Multiple Endocrine Neoplasia Type 1
Chapter 3: Family Screening and Genetic Counseling; References;
Chapter 4: Brief Summary of the Most Important Molecular Genetic Methods (PCR, qPCR, Microarray, Next-Generation Sequencing, e ... ; 4.1 Introduction; 4.2 DNA Isolation and Quality Control; 4.3 Polymerase Chain Reaction (PCR); 4.4 Multiplex Ligation-Dependent Probe Amplification (MLPA); 4.5 Sanger Sequencing; 4.6 Array-Based Methods; 4.7 Next-Generation Sequencing; 4.8 Conclusion; References; Part II: Endocrine Diseases Inherited as Monogenic Traits: Hormone Resistance Syndromes.