Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children-Reference-Cited by-同舟云学术

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Published:2018-03 Issue:3 Volume:102 Page:487-493
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Bashamboo Anu,Eozenou Caroline,Jorgensen Anne,Bignon-Topalovic Joelle,Siffroi Jean-Pierre,Hyon Capucine,Tar Attila,Nagy Péter,Sólyom Janos,Halász Zita,Paye-Jaouen Annnabel,Lambert Sophie,Rodriguez-Buritica David,Bertalan Rita,Martinerie Laetitia,Rajpert-De Meyts Ewa,Achermann John C.,McElreavey Ken

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference36 articles.

1. Gene mutations associated with anomalies of human gonad formation;Bashamboo;Sex Dev.,2013

2. A genomic atlas of human adrenal and gonad development;Del Valle;Wellcome Open Res.,2017

3. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development;McElreavey;Proc. Natl. Acad. Sci. USA,1993

4. Global disorders of sex development update since 2006: perceptions, approach and care;Lee;Horm. Res. Paediatr.,2016

5. A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb;Ohnesorg;Clin. Genet.,2017

Cited by 70 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs;Biology of Sex Differences;2024-09-02

2. Evidence for NR2F2/COUP-TFII involvement in human testis development;Scientific Reports;2024-08-01

3. NR2F2 is required in the embryonic testis for Fetal Leydig Cell development;2024-07-19

4. Conserved genes regulating human sex differentiation, gametogenesis and fertilization;Journal of Translational Medicine;2024-05-19

5. Diagnosis and management of non-CAH 46,XX disorders/differences in sex development;Frontiers in Endocrinology;2024-05-15