ArticleHuman genetics2019
Rare variants in FANCA induce premature ovarian insufficiency.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Research progress on the role and mechanism of DNA damage repair in germ cell development.Frontiers in endocrinology · 2023Pooled it
- A Novel BIRC6 Variant Impairs Apoptotic Regulation in Familial Premature Ovarian Insufficiency: Functional Validation in a CRISPR/Cas9 Zebrafish Model.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos.Human genetics · 2026Article
- From Genes to Lives: Integrating the Complexities of Primary Ovarian Insufficiency.International journal of molecular sciences · 2026Review
- Genetic variants in HELB contribute to premature ovarian insufficiency and early age of natural menopause.JCI insight · 2025Article
- The risk factors, pathogenesis and treatment of premature ovarian insufficiency.Journal of ovarian research · 2025Review
- Latitude-driven adaptive evolution of body length in diverse pig breeds across China.BMC biology · 2025Article
- Azoospermia/Oligozoospermia and Prostate Cancer Are Increased in Families of Women With Primary Ovarian Insufficiency.Journal of the Endocrine Society · 2025Article
- Maternal ELL3 loss-of-function leads to oocyte aneuploidy and early miscarriage.Nature structural & molecular biology · 2025Article
- Novel Loss-of-function Variants of ZP3 Associated with Premature Ovarian Insufficiency.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.Medicine · 2024Review
- Deletion of Fbxw7 in oocytes causes follicle loss and premature ovarian insufficiency in mice.Journal of cellular and molecular medicine · 2024Article
- A Human HomozygousGenes · 2024Article
- Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency.Human genetics · 2024Article
- Genome-wide detection of selection signatures in Jianli pigs reveals novel cis-regulatory haplotype in EDNRB associated with two-end black coat color.BMC genomics · 2024Article
- Rare variants in GPR3 in POI patients: a case series with review of literature.Journal of ovarian research · 2023Review
- Associations of genome-wide structural variations with phenotypic differences in cross-bred Eurasian pigs.Journal of animal science and biotechnology · 2023Article
- Facilitation of Ovarian Response by Mechanical Force-Latest Insight on Fertility Improvement in Women with Poor Ovarian Response or Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Mechanisms of ovarian aging in women: a review.Journal of ovarian research · 2023Review
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
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21 authors at 4 institutions in 2 countries.
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Abstract
Premature ovarian insufficiency (POI) is a major cause of reduced female fertility and affects approximately 1% women under 40 years of age. Recent advances emphasize the genetic heterogeneity of POI. Fanconi anemia (FA) genes, traditionally known for their essential roles in DNA repair and cytogenetic instability, have been demonstrated to be involved in meiosis and germ cell development. Here, we conducted whole-exome sequencing (WES) in 50 Han Chinese female patients with POI. Rare missense variants were identified in FANCA (Fanconi anemia complementation group A): c.1772G > A (p.R591Q) and c.3887A > G (p.E1296G). Both variants are heterozygous in the patients and very rare in the human population. In vitro functional studies further demonstrated that these two missense variants of FANCA exhibited reduced protein expression levels compared with the wild type, suggesting the partial loss of function. Moreover, mono-ubiquitination levels of FANCD2 upon mitomycin C stimulation were significantly reduced in cells overexpressing FANCA variants. Furthermore, a loss-of-function mutation of Fanca was generated in C57BL/6 mice for in vivo functional assay. Consistently, heterozygous mutated female mice (Fanca
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