Gene Regulatory Sequences and Human Disease

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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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.

• Systems Biology

• Institute for Human Genetics, San Francisco, USA

  Nadav Ahituv

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