Open AccessAberrant GDF9 Expression and Activation Are Associated With Common Human Ovarian Disorders
Author(s) -
Courtney M. Simpson,
David Robertson,
Sara L. Al-Musawi,
D. A. Heath,
Kenneth P. McNatty,
Lesley J. Ritter,
David G. Mottershead,
Robert B. Gilchrist,
Craig A. Harrison,
Peter G. Stanton
Publication year - 2014
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2013-3949
Subject(s) - endocrinology , growth differentiation factor 9 , biology , medicine , polycystic ovary , premature ovarian failure , ovulation , receptor , growth differentiation factor , growth factor , ovarian follicle , mutation , folliculogenesis , ovary , genetics , gene , embryogenesis , bone morphogenetic protein , insulin resistance , hormone , insulin
Growth differentiation factor 9 (GDF9) is a central regulator of folliculogenesis and ovulation rate. Fourteen mutations in human (h) GDF9 have been reported in women with premature ovarian failure or polycystic ovarian syndrome as well as in mothers of dizygotic twins, implicating GDF9 in the etiology of these conditions. We sought to determine how these mutations alter the biological activity of hGDF9.
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