ArticleAmerican journal of human genetics2007
NOBOX homeobox mutation causes premature ovarian failure.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 3 of them syntheses that pooled it.
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Who cites it
89 citing papers in PubMed, 3 syntheses or guidelines pooled it, 247 citations in OpenAlex.
- The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.International journal of fertility & sterility · 2019Pooled it
- Meta-analysis of loci associated with age at natural menopause in African-American women.Human molecular genetics · 2014Pooled it
- Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.Nature genetics · 2012Pooled it
- Cracking the fertility code: a comprehensive review of biomarkers and functional measures.Open biology · 2026Review
- Gene regulatory networks orchestrating oocyte fate bifurcation in primordial follicles revealed by single-cell transcriptomics.Communications biology · 2026Article
- Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.Molecular biology reports · 2025Article
- RHOX Homeobox Transcription Factor Regulation ofCells · 2025Article
- Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.Journal of assisted reproduction and genetics · 2025Article
- Mechanisms of follicular atresia: focus on apoptosis, autophagy, and ferroptosis.Frontiers in endocrinology · 2025Review
- Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs.Biology of sex differences · 2024Article
- Genetic insights into the complexity of premature ovarian insufficiency.Reproductive biology and endocrinology : RB&E · 2024Review
- Sirtuin 5-driven meiotic spindle assembly and actin-based migration in mouse oocyte meiosis.Heliyon · 2024Article
- Genomic aspects in reproductive medicine.Clinical and experimental reproductive medicine · 2024Article
- Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.BMC medical genomics · 2024Article
- Premature ovarian insufficiency: a review on the role of tobacco smoke, its clinical harm, and treatment.Journal of ovarian research · 2024Review
- NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.Journal of assisted reproduction and genetics · 2024Article
- Association between polymorphisms inFrontiers in veterinary science · 2024Article
- Single cell epigenomic and transcriptomic analysis uncovers potential transcription factors regulating mitotic/meiotic switch.Cell death & disease · 2023Article
- Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.Journal of ovarian research · 2023Article
- A sub-chronic feeding study of dual toxin insect-resistant transgenic maize (CEMB-413) on Wistar rats.PloS one · 2023Article
29 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
NOBOX (newborn ovary homeobox gene) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis and represents a candidate gene for nonsyndromic ovarian failure. We investigated whether mutations in the NOBOX gene cause premature ovarian failure (POF). We sequenced the NOBOX gene in 96 white women with POF and discovered seven known single-nucleotide polymorphisms and four novel variations, two of which, p.Arg355His and p.Arg360Gln, cause missense mutations in the homeobox domain. Electrophoretic mobility shift assay (EMSA) confirmed that the missense mutation, p.Arg355His, disrupted NOBOX homeodomain binding to NOBOX DNA-binding element (NBE) and had a dominant negative effect on the binding of wild-type NOBOX to DNA. Our findings demonstrate that NOBOX mutations can cause POF.
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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.