ArticlePLoS genetics2015
CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 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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Who cites it
38 citing papers in PubMed, 86 citations in OpenAlex.
- Mutation in MSH5 Causes Primary Ovarian Insufficiency and Successful Therapeutic Intervention by In Vitro Fertilisation.Journal of cellular and molecular medicine · 2026Article
- From Genes to Lives: Integrating the Complexities of Primary Ovarian Insufficiency.International journal of molecular sciences · 2026Review
- The risk factors, pathogenesis and treatment of premature ovarian insufficiency.Journal of ovarian research · 2025Review
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- MGA loss-of-function variants cause premature ovarian insufficiency.The Journal of clinical investigation · 2024Article
- Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.International journal of molecular sciences · 2024Article
- Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models.Journal of Zhejiang University. Science. B · 2024Review
- Primordial germ cell DNA demethylation and development require DNA translesion synthesis.Nature communications · 2024Article
- A Human HomozygousGenes · 2024Article
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- DNA double-strand break genetic variants in patients with premature ovarian insufficiency.Journal of ovarian research · 2023Review
- Mechanisms of ovarian aging in women: a review.Journal of ovarian research · 2023Review
- A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency.Molecular genetics & genomic medicine · 2022Article
- Management of a Girl With Delayed Puberty and Elevated Gonadotropins.Journal of the Endocrine Society · 2022Article
- Chrysin reduces inflammation and oxidative stress and improves ovarian function in D-gal-induced premature ovarian failure.Bioengineered · 2022Article
- Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.Journal of assisted reproduction and genetics · 2022Article
- Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency.Journal of ovarian research · 2022Article
- Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2022Observational
- Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.Human reproduction (Oxford, England) · 2021Article
- Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.Journal of the Endocrine Society · 2021Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Premature ovarian failure (POF) is a rare, heterogeneous disorder characterized by cessation of menstruation occurring before the age of 40 years. Genetic etiology is responsible for perhaps 25% of cases, but most cases are sporadic and unexplained. In this study, through whole exome sequencing in a non-consanguineous family having four affected members with POF and Sanger sequencing in 432 sporadic cases, we identified three novel mutations in the fusion gene CSB-PGBD3. Subsequently functional studies suggest that mutated CSB-PGBD3 fusion protein was impaired in response to DNA damage, as indicated by delayed or absent recruitment to damaged sites. Our data provide the first evidence that mutations in the CSB-PGBD3 fusion protein can cause human disease, even in the presence of functional CSB, thus potentially explaining conservation of the fusion protein for 43 My since marmoset. The localization of the CSB-PGBD3 fusion protein to UVA-induced nuclear DNA repair foci further suggests that the CSB-PGBD3 fusion protein, like many other proteins that can cause POF, modulates or participates in DNA repair.
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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.