ArticleAmerican journal of human genetics1998
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
68 citing papers in PubMed, 258 citations in OpenAlex.
- Loss of DIAPH3 accelerates glioma genesis in mice.Cell death & disease · 2026Article
- Overexpressed miR-135b in the ovaries of PCOS promotes granulosa cell proliferation by inhibiting Hippo signaling pathway.Journal of assisted reproduction and genetics · 2025Article
- Article
- Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.Journal of ovarian research · 2024Review
- Diaph1 knockout inhibits mouse primordial germ cell proliferation and affects gonadal development.Reproductive biology and endocrinology : RB&E · 2024Article
- Germ fate determinants protect germ precursor cell division by reducing septin and anillin levels at the cell division plane.Molecular biology of the cell · 2024Article
- DIAPH3 predicts survival of patients withFrontiers in oncology · 2024Article
- Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations.Epigenetics & chromatin · 2023Article
- In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear.PloS one · 2023Article
- Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.Sao Paulo medical journal = Revista paulista de medicina · 2023Article
- Ovarian dysfunction in women with Turner syndrome.Frontiers in endocrinology · 2023Review
- Ovarian Reserve Disorders, Can We Prevent Them? A Review.International journal of molecular sciences · 2022Review
- Comparison of the somatic TADs and lampbrush chromomere-loop complexes in transcriptionally active prophase I oocytes.Chromosoma · 2022Article
- Review
- Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.Journal of assisted reproduction and genetics · 2022Article
- Molecular mimicry between SARS-CoV-2 and the female reproductive system.American journal of reproductive immunology (New York, N.Y. : 1989) · 2021Article
- Formins in Human Disease.Cells · 2021Review
- Ovarian Fragmentation and AKT Stimulation for Expansion of Fertile Lifespan.Frontiers in reproductive health · 2021Review
- Colorectal Adenocarcinomas Harboring ALK Fusion Genes: A Clinicopathologic and Molecular Genetic Study of 12 Cases and Review of the Literature.The American journal of surgical pathology · 2020Review
- Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.Journal of the Endocrine Society · 2020Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Premature ovarian failure (POF) is a defect of ovarian development and is characterized by primary or secondary amenorrhea, with elevated levels of serum gonadotropins, or by early menopause. The disorder has been attributed to various causes, including rearrangements of a large "critical region" in the long arm of the X chromosome. Here we report identification, in a family with POF, of a gene that is disrupted by a breakpoint. The gene is the human homologue of the Drosophila melanogaster diaphanous gene; mutated alleles of this gene affect spermatogenesis or oogenesis and lead to sterility. The protein (DIA) encoded by the human gene (DIA) is the first human member of the growing FH1/FH2 protein family. Members of this protein family affect cytokinesis and other actin-mediated morphogenetic processes that are required in early steps of development. We propose that the human DIA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation.
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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.