作者
Liliana C Patiño, Kelly L Walton, Thomas D Mueller, Katharine E Johnson, William Stocker, Dulama Richani, David Agapiou, Robert B Gilchrist, Paul Laissue, Craig A Harrison
发表日期
2017/3/1
期刊
The Journal of Clinical Endocrinology & Metabolism
卷号
102
期号
3
页码范围
1009-1019
出版商
Endocrine Society
简介
Context
Bone morphogenetic protein (BMP)15 is an oocyte-specific growth factor, which, together with growth differentiation factor (GDF) 9, regulates folliculogenesis and ovulation rate. Multiple mutations in BMP15 have been identified in women with primary ovarian insufficiency (POI), supporting a pathogenic role; however, the underlying biological mechanism of many of these mutants remains unresolved.
Objectives
To determine how mutations associated with ovarian dysfunction alter the biological activity of human BMP15.
Design
The effects of 10 mutations in BMP15 on protein production, activation of granulosa cells, and synergy with GDF9 were assessed.
Results
Sequencing of 35 patients with POI identified both an unrecognized BMP15 variant (c.986G>A, R329H) and a variant (c.581T>C, F194S) previously associated with …
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LC Patiño, KL Walton, TD Mueller, KE Johnson… - The Journal of Clinical Endocrinology & Metabolism, 2017