Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency

J Bouilly, I Beau, S Barraud, V Bernard… - The Journal of …, 2016 - academic.oup.com
Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and
infertility. POI affects 1% of women before age 40 years, and several genetic causes have …

A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway

L Li, X Zhou, X Wang, J Wang, W Zhang… - MHR: Basic science …, 2016 - academic.oup.com
STUDY QUESTION Does a heterozygous mutation in AMHR2, identified in whole-exome
sequencings (WES) of patients with primary ovarian insufficiency (POI), cause a defect in …

Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency

C Hyon, L Mansour-Hendili… - The Journal of …, 2016 - academic.oup.com
Context: Premature ovarian insufficiency (POI) may be secondary to chemotherapy,
radiotherapy, or environmental factors. Genetic causes are identified in 20–25% of cases …

Primary ovarian insufficiency associated with autosomal abnormalities: from chromosome to genome-wide and beyond

P Vichinsartvichai - Menopause, 2016 - journals.lww.com
Objective: The pathophysiology of primary ovarian insufficiency (POI) is not well elucidated.
Many candidate genetic aberrations are on the X-chromosome; on the contrary, many …

Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency

I Ferrari, J Bouilly, I Beau, F Guizzardi… - Human Molecular …, 2016 - academic.oup.com
Premature ovarian insufficiency (POI) is a clinical syndrome defined by a loss of ovarian
activity before the age of 40. Its pathogenesis is still largely unknown, but increasing …

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

N Bouali, B Francou, J Bouligand, B Lakhal… - Clinical …, 2016 - Wiley Online Library
Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of
40. Genetic contribution is a significant component of POI. In this context, heterozygous …

[HTML][HTML] Computational molecular analysis of the sequences of BMP15 gene of ruminants and non-ruminants

BS Bibinu, A Yakubu, SB Ugbo, NI Dim - Open Journal of Genetics, 2016 - scirp.org
Bone morphogenetic protein 15 (BMP15) is a member of the transforming growth factor β
(TGFβ) super family that is expressed by oocytes and plays key roles in granulosa cell …

Etiologies of primary ovarian insufficiency

N Foyouzi, LJ Green, SA Camper - … Insufficiency: A Clinical Guide to Early …, 2016 - Springer
Primary ovarian insufficiency (POI) is a subclass of ovarian dysfunction in which the resting
pool of primordial follicles is prematurely exhausted. It occurs through two major …

Étude des gènes impliqués dans le déterminisme gonadique chez l'homme

C Hyon - 2016 - theses.hal.science
Les anomalies du développement sexuel recouvrent un spectre phénotypique large. Les
hommes XX présentent dans la majorité des cas un développement testiculaire normal, lié à …

Oocyte-derived forms of ruminant BMP15 and GDF9 and a theoretical model to explain their synergistic response

D Heath - 2016 - openaccess.wgtn.ac.nz
Bone morphogenetic factor 15 (BMP15) and growth differentiation factor 9 (GDF9) are two
oocyte-secreted factors with well documented effects on ovarian follicular development and …