Investigating the human genome : insights into human variation and disease susceptibility

著者

    • Smith, Moyra

書誌事項

Investigating the human genome : insights into human variation and disease susceptibility

Moyra Smith

FT Press, c2011

  • : hardback

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注記

Includes bibliographical references (p. 171-202) and index

内容説明・目次

内容説明

Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome. This book addresses into a wide spectrum of topics associated with human genetics and genomics, including: Human origins; migrations and human population diversity gained though genomic analyses. The complexities of psychiatric diseases that are influenced by genetics. The pathogenesis of late-onset neurological diseases such as Alzheimer's, Parkinsonism, and ALS. Key aspects of protein misfolding. Gene-environment interactions in DNA damage and repair and DNA instability. Micro RNAs and mRNA translation. Epigenetics. New functions for old enzymes in cancer.

目次

Preface vii Chapter 1 Genome Architecture and Sequence Variation in Health and Disease 1 Chapter 2 Genes and Transcripts: Insight into Regulation at Different Levels 23 Chapter 3 Epigenetics: Modifications of DNA, Chromatin, and Gene Expression 37 Chapter 4 Gene Environment Interactions 53 Chapter 5 Pathways, Phenotypes, and Phenocopies 67 Chapter 6 Dynamic Function, Synaptic Activity, and Plasticity 81 Chapter 7 Late Onset Neurodegenerative Diseases 101 Chapter 8 Genes and Genomes in Cancer: Targeted Therapies 131 Chapter 9 Functional Genomics: Personalized Medicine and Therapeutics 153 Epilogue 167 References 171 About the Author 203 Index 205

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