ArticleAmerican journal of human genetics2018
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 102 citations in OpenAlex.
- Phenotyping and hierarchical clustering in genetically unresolved DSD identifies distinct multisystem clinical subgroups-a DSDgene study.Journal of the Endocrine Society · 2026Article
- The persisting presence of absence in female sex development: a critical interdisciplinary reflection.Biology of sex differences · 2026Review
- Sjögren's patient subgroups identified through whole genome DNA methylation profiling.Arthritis research & therapy · 2026Article
- Variant Curation of the Largest Compendium ofHuman mutation · 2026Article
- Rare co-existence of 15q26 deletion syndrome and lymphangioleiomyomatosis: diagnostic and therapeutic challenge.Journal of applied genetics · 2025Article
- Differences of sex development.Nature reviews. Disease primers · 2025Review
- Article
- NR2F2 regulation of interstitial cell fate in the embryonic mouse testis and its impact on differences of sex development.Nature communications · 2025Article
- Exploring diversity: a review of animal models for investigating variations in sex characteristics.Frontiers in pediatrics · 2025Review
- Single-cell RNA sequencing reveals key regulators and differentiation trajectory of iPSC-derived cardiomyocytes.Scientific reports · 2024Article
- Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development.Biology of sex differences · 2024Article
- Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs.Biology of sex differences · 2024Article
- Evidence for NR2F2/COUP-TFII involvement in human testis development.Scientific reports · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- Loss of PBX1 function in Leydig cells causes testicular dysgenesis and male sterility.Cellular and molecular life sciences : CMLS · 2024Article
- COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors.Cell & bioscience · 2024Article
- Diagnosis and surgical decision-making of a 46, XX ovotesticular disorders of sex development patient: a case report.Frontiers in surgery · 2024Article
- Testicular differentiation in 46,XX DSD: an overview of genetic causes.Frontiers in endocrinology · 2024Review
- Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.Frontiers in endocrinology · 2024Review
- Towards a "Testis in a Dish": Generation of Mouse Testicular Organoids that Recapitulate Testis Structure and Expression Profiles.International journal of biological sciences · 2024Article
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 4 countries.
Funding
Abstract
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 Sanger sequencing on 79 46,XX SRY-negative individuals with either unexplained virilization or with testicular/ovotesticular disorders/differences of sex development (TDSD/OTDSD). We identified heterozygous frameshift mutations in NR2F2, encoding COUP-TF2, in three children. One carried a c.103_109delGGCGCCC (p.Gly35Argfs
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.