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Gene Regulatory Sequences and Human Disease

  • Book
  • © 2012

Overview

Editors:
  1. Nadav Ahituv

    1. Institute for Human Genetics, San Francisco, USA

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  • Different technological advances used for this research are introduced

  • Examines noncoding sequences as gene regulatory elements

  • Presents breakthroughs in this field due to advances in genomics

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Table of contents (12 chapters)

  1. Front Matter

    Pages i-x
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  2. Gene Regulatory Elements

    • Nadav Ahituv
    Pages 1-17

  3. The Hemoglobin Regulatory Regions

    • Betty S. Pace, Levi H. Makala
    Pages 19-40

  4. Regulatory Polymorphisms and Osteoporosis

    • Huilin Jin, Stuart H. Ralston
    Pages 41-54

  5. Gene Regulation in Van Buchem Disease

    • Gabriela G. Loots
    Pages 55-71

  6. Cis-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations

    • Julia E. VanderMeer, Nadav Ahituv
    Pages 73-93

  7. Regulatory Mutations Leading to Cleft Lip and Palate

    • Brian C. Schutte, Walid D. Fakhouri, Daniel Zemke
    Pages 95-122

  8. Cis-Regulatory Disruption at the SOX9 Locus as a Cause of Pierre Robin Sequence

    • Christopher T. Gordon, Sabina Benko, Jeanne Amiel, Stanislas Lyonnet
    Pages 123-136

  9. Regulatory Mutations in Human Hereditary Deafness

    • Jonathan E. Bird, Thomas B. Friedman
    Pages 137-168

  10. The Contributions of RET Noncoding Variation to Hirschsprung Disease

    • Zachary E. Stine, Andrew S. McCallion
    Pages 169-194

  11. Cis-Regulatory Variation and Cancer

    • Nora F. Wasserman, Marcelo A. Nobrega
    Pages 195-216

  12. Cohesin and Human Diseases

    • Dongbin Xu, Ian D. Krantz
    Pages 217-251

  13. Epigenetics and Human Disease

    • Angeliki Magklara, Stavros Lomvardas
    Pages 253-279

  14. Back Matter

    Pages 281-283
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Keywords

About this book

In Gene Regulatory Sequences and Human Disease, the Editor will introduce the different technological advances that led to this breakthrough. In addition, several examples will be provided of nucleotide variants in noncoding sequences that have been shown to be associated with various human diseases.

Editors and Affiliations

  • Institute for Human Genetics, San Francisco, USA

    Nadav Ahituv

Bibliographic Information

  • Book Title: Gene Regulatory Sequences and Human Disease

  • Editors: Nadav Ahituv

  • DOI: https://doi.org/10.1007/978-1-4614-1683-8

  • Publisher: Springer New York, NY

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer Science+Business Media, LLC 2012

  • Hardcover ISBN: 978-1-4614-1682-1Published: 30 May 2012

  • Softcover ISBN: 978-1-4899-8785-3Published: 11 June 2014

  • eBook ISBN: 978-1-4614-1683-8Published: 30 May 2012

  • Edition Number: 1

  • Number of Pages: X, 286

  • Topics: Human Genetics, Developmental Biology, Systems Biology

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