ArticleReproductive biology and endocrinology : RB&E2006
Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men.
Article in Reproductive biology and endocrinology : RB&E, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Evaluation of association between methylenetetrahydrofolate reductase and azoospermia: A meta-analysis.Medicine · 2021Pooled it
- Association between DAZL polymorphisms and susceptibility to male infertility: systematic review with meta-analysis and trial sequential analysis.Scientific reports · 2014Pooled it
- Post-translational modification of proteins in the human testis development pathway.Human reproduction update · 2026Review
- Investigation of the effect of tannic acid on doxorubicin-ınduced testicular damage and functions in a rat model.Naunyn-Schmiedeberg's archives of pharmacology · 2025Article
- An overview of different methods to establish a murine premature ovarian failure model.Animal models and experimental medicine · 2024Review
- Dietary Exposure to Pesticide and Veterinary Drug Residues and Their Effects on Human Fertility and Embryo Development: A Global Overview.International journal of molecular sciences · 2024Review
- Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.BMC medical genomics · 2024Article
- Truncated DAZL mutation reduces NANOS3 expression in primordial germ cells and leads to premature ovarian insufficiency.Life medicine · 2024Article
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- Article
- The RNA-binding protein DAZL functions as repressor and activator of mRNA translation during oocyte maturation.Nature communications · 2020Article
- Review
- Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.PloS one · 2020Article
- Dazl determines primordial follicle formation through the translational regulation of Tex14.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- DAZL is a master translational regulator of murine spermatogenesis.National science review · 2019Article
- In vitro differentiation of human embryonic stem cells into ovarian follicle-like cells.Nature communications · 2017Article
- RNA immunoprecipitation identifies novel targets of DAZL in human foetal ovary.Molecular human reproduction · 2017Article
- Phosphorylation of the RNA-binding protein Dazl by MAPKAP kinase 2 regulates spermatogenesis.Molecular biology of the cell · 2016Article
- Is there a role for DAZL in human female fertility?Molecular human reproduction · 2016Article
- Generation of fertile offspring from Kit(w)/Kit(wv) mice through differentiation of gene corrected nuclear transfer embryonic stem cells.Cell research · 2015Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundThe Deleted-in-AZoospermia-Like (DAZL) gene has homologs required for germ cell development in many organisms. Recently, we showed that there are several common polymorphisms within the DAZL gene that are associated with age at ovarian failure/menopause and sperm count.
methodsHere we sought to identify rare mutations in DAZL and examine their phenotypes in men and women. We sequenced the DAZL gene in 519 individuals; sequences spanned the entire coding region of the gene.
resultsWe report the identification of four putative missense mutations in DAZL. Three individuals that were heterozygous for a DAZL mutation reported having children, while two individuals that were homozygous reported no children. These mutations were found only in infertile men and women.
conclusionGiven the strong data associating DAZL polymorphisms and deletions with fertility in humans and model organisms, we suggest that these mutations may be associated with age at menopause and/or sperm count and warrant further biochemical and genetic investigation.
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