Title Gene regulatory sequences and human disease / Nadav Ahituv, editor

Published New York, NY : Springer, ©2012

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Description 1 online resource Contents Gene Regulatory Elements / Nadav Ahituv -- The 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 -- The 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 Summary Genes make up less than 2% of our DNA and within the remaining 98% lie other extremely important sequences that function as gene regulatory elements, instructing genes when, where and at what levels to turn on or off. In this book, we introduce the different types of gene regulatory elements and how to identify and functionally characterize them. In addition, we describe several pioneering examples of how mutations in these elements have been found to cause human disease. With advances in DNA sequencing, the ability to identify disease-associated mutations in these regulatory elements is rapidly increasing. This book provides a great starting point for clinicians, geneticists, genomicists, developmental biologists and computational biologists to understand how to identify gene regulatory elements and associate nucleotide variation within them to human disease Analysis Medicine Human genetics Biological models Developmental biology Biomedicine Systems Biology biomedische wetenschappen ontogenie ontogeny humane genetica systeembiologie Medicine (General) Geneeskunde (algemeen) Bibliography Includes bibliographical references and index Notes English Subject Genetic regulation. Human immunogenetics. Biology. Gene expression. Proteins. Life sciences. Physical sciences. Transcription factors. Genetic transcription. Biology Gene Expression Biochemical Phenomena Proteins Genetic Phenomena Amino Acids, Peptides, and Proteins Chemical Phenomena Biological Science Disciplines Phenomena and Processes Chemicals and Drugs Natural Science Disciplines Disciplines and Occupations Transcription Factors Transcription, Genetic Gene Expression Regulation Genetics biology. protein. biological sciences. physical sciences. SCIENCE -- Life Sciences -- Genetics & Genomics. Transcription factors Proteins Physical sciences Life sciences Genetic transcription Gene expression Biology Genetic regulation Human immunogenetics Form Electronic book Author Ahituv, Nadav ISBN 9781461416838 1461416833 1489987851 9781489987853

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