Investigating the Human Genome - Moyra Smith

Investigating the Human Genome

Insights into Human Variation and Disease Susceptibility

(Autor)

Buch | Hardcover
224 Seiten
2011
Financial Times Prentice Hall (Verlag)
978-0-13-216814-4 (ISBN)
45,90 inkl. MwSt
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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.

Moyra Smith is Professor of Pediatrics and Human Genetics at the School of Medicine at University of California, Irvine. A leading scholar in her field, she has served as an editor of McKusick’s classic “Red Book,” Mendelian Inheritance in Man. Smith’s monographs in the Oxford Series on Human Genetics include Mental Retardation and Developmental Delay: Genetic and Epigenetic Factors (2005), Translational Research in Genetics and Genomics (2008), and Phenotypic Variation: Exploration and Functional Genomics (2011).

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

Erscheint lt. Verlag 14.7.2011
Zusatzinfo Illustrations
Verlagsort Upper Saddle River
Sprache englisch
Maße 191 x 237 mm
Gewicht 400 g
Themenwelt Schulbuch / Wörterbuch
Informatik Weitere Themen Bioinformatik
Naturwissenschaften Biologie Genetik / Molekularbiologie
Naturwissenschaften Biologie Humanbiologie
Sozialwissenschaften Pädagogik
ISBN-10 0-13-216814-6 / 0132168146
ISBN-13 978-0-13-216814-4 / 9780132168144
Zustand Neuware
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