Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology-Reference-Cited by-同舟云学术

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology

Published:2018-10-22 Issue:1 Volume:40 Page:25-30
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Patiño Liliana C.¹,Beau Isabelle²^ORCID,Morel Adrien¹,Delemer Brigitte³,Young Jacques²⁴,Binart Nadine²^ORCID,Laissue Paul¹^ORCID

Affiliation:

1. Center For Research in Genetics and Genomics (CIGGUR); GENIUROS Research Group; School of Medicine and Health Sciences; Universidad del Rosario; Bogotá Colombia

2. Inserm U1185; Faculté de Médecine Paris Sud; Université Paris-Saclay; Le Kremlin-Bicêtre France

3. Service d'Endocrinologie-Diabète-Nutrition; CHU de Reims-Hôpital Robert-Debré; Reims France

4. Assistance Publique-Hôpitaux de Paris; Bicêtre Hospital; Department of Reproductive Endocrinology; Université Paris Sud; Le Kremlin-Bicêtre France

Funder

Universidad del Rosario

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23667/fullpdf

Reference35 articles.

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2. Notch signalling in context;Bray;Nature Reviews Molecular Cell Biology,2016

3. A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency;Carlosama;Clinical Endocrinology,2018

4. ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure;Delcour;Genetics in Medicine,2018

5. Conformational locking upon cooperative assembly of notch transcription complexes;Choi;Structure,2012

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