ArticleScientific reports2015
Novel WT1 Missense Mutations in Han Chinese Women with Premature Ovarian Failure.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 44 citations in OpenAlex.
- From Genes to Lives: Integrating the Complexities of Primary Ovarian Insufficiency.International journal of molecular sciences · 2026Review
- 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.Frontiers in endocrinology · 2024Review
- Cocktails of NSAIDs and 17α Ethinylestradiol at Environmentally Relevant Doses in Drinking Water Alter Puberty Onset in Mice Intergenerationally.International journal of molecular sciences · 2023Article
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Autophagy regulates differentiation of ovarian granulosa cells through degradation of WT1.Autophagy · 2022Article
- Whole exome sequencing identified a rare WT1 loss-of-function variant in a non-syndromic POI patient.Molecular genetics & genomic medicine · 2022Article
- lncRNAMolecular therapy. Nucleic acids · 2021Article
- Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of BiotinJournal of clinical research in pediatric endocrinology · 2021Article
- Genetics of Azoospermia.International journal of molecular sciences · 2021Review
- lncRNAMolecular therapy. Nucleic acids · 2021Article
- Application of Bioinformatics Analysis to Identify Important Pathways and Hub Genes in Ovarian Cancer Affected by WT1.Frontiers in bioengineering and biotechnology · 2021Article
- Oocyte retrieval outcomes among adolescent transgender males.Journal of assisted reproduction and genetics · 2020Article
- Disorders of Sex Development-Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation.International journal of molecular sciences · 2020Review
- Autosomal single-gene disorders involved in human infertility.Saudi journal of biological sciences · 2018Article
- The Wilms tumor protein Wt1 contributes to female fertility by regulating oviductal proteostasis.Human molecular genetics · 2017Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Premature ovarian failure (POF) is a heterogeneous disease. Though dozens of candidate genes have been identified for the genetic etiology of POF, it is largely unexplained in majority of patients. Recently, Wt1(+/R394W) mice was found to present POF-like phenotype, which indicates that WT1 might be a plausible candidate gene for non-syndromic POF. The coding region of WT1 gene was screened in 384 patients with POF and 6 novel variations were identified, including two missense mutations (p. Pro126Ser in exon1 and p. Arg370His in exon7) and four intronic variants (c.647-27C > T, c.647-13G > C, c.647-13G > A in intron1 and c.950 + 14T > C in intron 4). In vitro experiments showed that both mutant p. Pro126Ser and p. Arg370His repressed the expression of Amh and Cdh1, and induced the expression of Fshr and Cyp19 in mRNA level (P < 0.05). The expression changes of AMH, FSHR, CYP19 and CDH1 were confirmed by western blot. These genes (AMH, FSHR, CYP19 and CDH1) are required for granular cells (GCs) proliferation, differentiation and oocyte-GCs interaction. The novel mutant p. P126S and p. R370H in the WT1 gene potentially impaired GCs differentiation and oocyte-GCs interaction, which might result in loss of follicles prematurely. Therefore, WT1 is a plausible causal gene for POF.
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