A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency-Reference-Cited by-同舟云学术

A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency

Published:2018-06-14 Issue:2 Volume:89 Page:245-246
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Carlosama Carolina¹,Patiño Liliana Catherine¹,Beau Isabelle²,Morel Adrien¹,Delemer Brigitte³,Young Jacques²⁴,Binart Nadine²,Laissue Paul¹^ORCID

Affiliation:

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

2. Inserm 1185; Faculté de Médecine Paris Sud; Le Kremlin-Bicêtre; Université Paris-Saclay; Le Kremlin-Bicêtre France

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

4. Service d'Endocrinologie et des Maladies de la Reproduction; APHP; Hôpital de Bicêtre; Le Kremlin-Bicêtre France

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cen.13749/fullpdf

Reference7 articles.

1. Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing;Wang;Hum Reprod,2017

2. Reaching for the stars: linking RNA binding proteins to diseases;Richard;Adv Exp Med Biol,2010

3. Ablation of the Sam68 gene impairs female fertility and gonadotropin-dependent follicle development;Bianchi;Hum Mol Genet,2010

4. The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing;Laissue;Mol Cell Endocrinol,2018

5. New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing;Patiño;Hum Reprod,2017

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1. Granulosa Cell Dysfunction Is Associated With Diminished Ovarian Response in FMR1 Premutation Carriers;The Journal of Clinical Endocrinology & Metabolism;2022-09-16

2. Genetics of ovarian insufficiency and defects of folliculogenesis;Best Practice & Research Clinical Endocrinology & Metabolism;2021-10

3. Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA;Current Hypertension Reports;2020-03-14

4. Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era;Journal of the Endocrine Society;2019-02-19

5. Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology;Human Mutation;2018-10-22