A rare germline BMP15 missense mutation causes hereditary ovarian immature teratoma in human

Y Liu, H Fan, X Kang, Y Hao, N Wang… - Proceedings of the …, 2024 - National Acad Sciences
Ovarian immature teratomas (OITs) are malignant tumors originating from the ovarian germ
cells that mainly occur during the first 30 y of a female's life. Early age of onset strongly …

Missense mutations in the BMP15 gene are associated with ovarian failure

H Dixit, LK Rao, VV Padmalatha, M Kanakavalli… - Human genetics, 2006 - Springer
Premature ovarian failure (POF) is an unexplained amenorrhoea (> 6 months) with raised
levels of gonadotropins (FSH> 40 U/L) occurring before the age of 40 years. Recent studies …

Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency

T Zhang, Q Ma, Q Shen, C Jiang, F Zou, Y Shen… - Journal of Assisted …, 2022 - Springer
Background Premature ovarian insufficiency (POI) occurs in women before the age of 40
years, accompanied by amenorrhea, hypoestrogenism, hypergonadotropinism, and …

[HTML][HTML] Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency

F Afkhami, S Shahbazi, L Farzadi, S Danaei - Reproductive Biology and …, 2022 - Springer
Background Bone morphogenetic protein 15 (BMP15) is expressed in oocytes and plays a
crucial role in the reproduction of mono-ovulating species. In humans, BMP15 gene …

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency

R Rossetti, I Ferrari, I Bestetti, S Moleri… - Human …, 2020 - Wiley Online Library
Abstract Bone morphogenetic protein 15 (BMP15) encodes an oocyte factor with a relevant
role for folliculogenesis as homodimer or cumulin heterodimer (BMP15‐GDF9) …

Variants of the BMP15 gene in a cohort of patients with premature ovarian failure

D Tiotiu, B Alvaro Mercadal, R Imbert… - Human …, 2010 - academic.oup.com
BACKGROUND Bone morphogenetic protein 15 (BMP15) is an oocyte-derived growth factor
acting as a major player in follicle differentiation in mammals. Mutations in the BMP15 gene …

BMP15 c.-9C> G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure

DJ Fonseca, O Ortega-Recalde… - Reproductive …, 2014 - Elsevier
BMP15 has drawn particular attention in the pathophysiology of reproduction, as its
mutations in mammalian species have been related to different reproductive phenotypes. In …

BMP15, fertility and the ovary

R Abir, B Fisch, MH Johnson - Reproductive BioMedicine Online, 2014 - rbmojournal.com
Premature ovarian failure (POF), also known as premature menopause, is defined as at
least six months of amenorrhea before the age of 40 with elevated gonadotrophins and …

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

R Rossetti, E Di Pasquale, A Marozzi, S Bione… - Human …, 2009 - Wiley Online Library
Abstract Bone morphogenetic protein‐15 (BMP15) is selectively synthesized by oocytes as a
pre‐proprotein and is considered an ovarian follicle organizer whose adequate function is …

Identification of New Variants of Human BMP15 Gene in a Large Cohort of Women with Premature Ovarian Failure

E Di Pasquale, R Rossetti, A Marozzi… - The Journal of …, 2006 - academic.oup.com
Context: Premature ovarian failure (POF) is a cause of female infertility characterized by
primary (PA) or secondary amenorrhea (SA) and elevated gonadotropins. The pathogenesis …