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

doi:10.1016/j.ajhg.2018.01.021

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Article

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

American journal of human genetics - 1 Mar 2018

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

Abstract excerpt

Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while actively repressing the other. However, in contrast to testis formation, the gene regulatory pathways governing mammalian ovary development have remained elusive. We performed exome or...

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Identifiers

PMID: 29478779
DOI: 10.1016/j.ajhg.2018.01.021
PMCID: PMC5985285

Genes

FOXL2
SRY

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.PMID 29478779Read ↗

Evidence for <i>NR2F2</i> /COUP-TFII involvement in human testis developmentSemantic proximity Read ↗

Evidence for NR2F2/COUP-TFII involvement in human testis development.Semantic proximity Read ↗

COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitorsSemantic proximity Read ↗

NR2F2 is required in the embryonic testis for Fetal Leydig Cell developmentSemantic proximity Read ↗

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentSemantic proximity Read ↗

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.Semantic proximity Read ↗

Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.Semantic proximity Read ↗

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Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.Semantic proximity Read ↗

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