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OverviewDuring the past two decades international collaborative studies have yielded extensive information on genome sequences, genome architecture and their variations. The challenge we now face is to understand how these variations impact structure and function of organelles, physiological systems and phenotype. The goal of this book is to present steps in the pathways of exploration to connect genotype to phenotype and to consider how alterations in genomes impact disease. In this book the author reviews published research in functional genomics carried out primarily since 2006 that sheds light on aspects of phenotypic variation. The goal of functional genomics is to gain insight into mechanisms through which specific changes in genome transcripts and regulation induce changes in proteins, pathways, organelles, cellular and tissue functions, morphology and ultimately in phenotype. Topics reviewed include investigations in genome architecture, gene structure, gene regulation epigenetic modifications and function of organelles including mitochondria, and the endosome lysosome system. New insights into neurodevelopment and neurobehavioral disorders gained through functional genomic research are presented. Aspects of genomic studies in complex common diseases are reviewed. Molecular genetic variations and aberrations in cellular mechanisms involved in protein quality surveillance play a role in late onset diseases and one chapter deals with this topic. Molecular analyses of genes and proteins continue to shed light on the pathogenesis of malformation syndromes and specific examples of such studies are presented. There is growing evidence that late onset disorders such as Parkinson disease, are frequently the end result of defects in functioning of components in different pathways and examples of these are discussed. There is evidence that genetic variation determines differences in response to environmental insults. Genetic variations in complement factor genes are an example of this and are discussed in the context of macular degeneration and pathogenesis of hemolytic uremic syndrome in response exposure to E coli Shiga toxin. In the final chapter the author briefly summarizes key features of the cascade of events that constitute functional genomics. Full Product DetailsAuthor: Moyra Smith (Professor Emeritus, Human Genetics Professor Recalled, Professor Emeritus, Human Genetics Professor Recalled, Dept. of Pediatrics, University of California, Irvine)Publisher: Oxford University Press Inc Imprint: Oxford University Press Inc Dimensions: Width: 23.90cm , Height: 2.30cm , Length: 16.50cm Weight: 0.567kg ISBN: 9780195379631ISBN 10: 0195379632 Pages: 252 Publication Date: 03 February 2011 Audience: Professional and scholarly , Professional & Vocational Format: Hardback Publisher's Status: Active Availability: To order  Stock availability from the supplier is unknown. We will order it for you and ship this item to you once it is received by us. Table of ContentsTable of Contents Chapter 1. Phenotype and Functional Genomics: Introduction Chapter 2. Evolution Chapter 3. Genomic architecture and copy number changes Chapter 4. Linkage, association and linkage disequilibrium Chapter 5. Regulation of transcription, splicing and translation: impact of perturbation on phenotype Chapter 6. Mitochondria: genome, functions and phenotype Chapter 7. Quality surveillance Chapter 8. Neurodevelopment and functional genomics Chapter 9. Neurobehavioral disorders Chapter 10. Molecular analyses of malformation syndromes Chapter 11. Multiple pathways including environmental factors that lead to a specific phenotype with later onset EpilogueReviewsPainstakingly curates an impressive swath of very serious science published in [Smith's] field of functional genomics up until 2009, and is modest in its claims about how we can currently apply the findings to medicine. -- European Journal of Human Genetics Painstakingly curates an impressive swath of very serious science published in [Smith's] field of functional genomics up until 2009, and is modest in its claims about how we can currently apply the findings to medicine. -- European Journal of Human Genetics <br> Painstakingly curates an impressive swath of very serious science published in [Smith's] field of functional genomics up until 2009, and is modest in its claims about how we can currently apply the findings to medicine. -- European Journal of Human Genetics<p><br> Painstakingly curates an impressive swath of very serious science published in [Smith's] field of functional genomics up until 2009, and is modest in its claims about how we can currently apply the findings to medicine. -- European Journal of Human Genetics Author InformationMoyra Smith, MD, PhD, has been conducting research in human genetics since 1965. She served as Clinical geneticist and Director of the Newborn screening Program at the University of California Irvine for 19 years and is currently Professor Emeritus at that institution. Her latest research includes studies of nuclear and mitochondrial genomics in autism Tab Content 6Author Website:Countries AvailableAll regions |
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