Gene regulatory sequences and human disease / ed. by N.Ahituv. - New York: Springer, 2012. - x, 283 p.: ill. - Incl. bibl. ref. - Ind.: p.281-283. - ISBN 978-1-4614-1682-1  Место хранения:   021 | Институт цитологии и генетики CO РАН | Новосибирск | Библиотека

Оглавление / Contents

1 Gene Regulatory Elements ..................................... 1 Nadav Ahituv 2 The Hemoglobin Regulatory Regions ........................... 19 Betty S. Pace and Levi H. Makala 3 Regulatory Polymorphisms and Osteoporosis ................... 41 Huilin Jin and Stuart H. Ralston 4 Gene Regulation in Van Buchem Disease ....................... 55 Gabriela G. Loots 5 Cis-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations .......................................... 73 Julia E. VanderMeer and Nadav Ahituv 6 Regulatory Mutations Leading to Cleft Lip and Palate ........ 95 Brian C. Schutte, Walid D. Fakhouri, and Daniel Zemke 7 Cis-Regulatory Disruption at the SOX9 Locus as a Cause of Pierre Robin Sequence ................................... 123 Christopher T. Gordon, Sabina Benko, Jeanne Amiel, and Stanislas Lyonnet 8 Regulatory Mutations in Human Hereditary Deafness .......... 137 Jonathan E. Bird and Thomas B. Friedman 9 The Contributions of RET Noncoding Variation to Hirschsprung Disease ....................................... 169 Zachary E. Stine and Andrew S. McCallion 10 Cis-Regulatory Variation and Cancer ........................ 195 Nora F. Wasserman and Marcelo A. Nobrega 11 Cohesin and Human Diseases ................................. 217 Dongbin Xu and Ian D. Krantz 12 Epigenetics and Human Disease .............................. 253 Angeliki Magklara and Stavros Lomvardas Index ......................................................... 281