ArticleF&S reports2020
Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis.
Article in F&S reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- Pharmacological rescue of follicle-stimulating hormone receptor mutants. In vitro and in silico studies.Endocrinology · 2026Article
- A critical review of the recent concept of regulatory performance of DNA Methylations, and DNA methyltransferase enzymes alongside the induction of immune microenvironment elements in recurrent pregnancy loss.Toxicology reports · 2024Review
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Sinapine Thiocyanate Inhibits the Proliferation and Mobility of Pancreatic Cancer Cells by Up-Regulating GADD45A.Journal of Cancer · 2022Article
- Resistant ovary syndrome: Pathogenesis and management strategies.Frontiers in medicine · 2022Review
- Identification and characterization of novel compound heterozygous variants inFrontiers in endocrinology · 2022Article
- Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.Molecular genetics & genomic medicine · 2021Article
- Explaining the unexplained: new genetic mutations in unexplained premature ovarian insufficiency.F&S reports · 2020Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo find the genetic etiology of premature ovarian insufficiency (POI) in a patient with primary amenorrhea and hypergonadotropic hypogonadism.
designCase report.
settingUniversity hospital. PATIENTS: A Belgian woman aged 32 years with POI at the age of 17, her parents, and her sister whose POI was diagnosed at age 29.
interventionsAnalysis of a panel of 31 genes implicated in POI (POIGP) using next-generation sequencing (NGS), Sanger sequencing, and in vitro functional study.
main outcome measuresGene variants, family mutational segregation, and in vitro functional impact of the mutant proteins.
resultsThe analysis of the gene panel using NGS identified the presence of two novel follicle-stimulating hormone receptor (
conclusionsThe analysis of a gene panel of 31 genes implicated in POI allowed us to identify two novel partially inactivating mutations of
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