ArticlePloS one2015
A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.Biomolecules · 2023Review
- Inhibition of NR5A1 Phosphorylation Alleviates a Transcriptional Suppression Defect Caused by a NovelJournal of the Endocrine Society · 2022Article
- Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases ofFrontiers in endocrinology · 2022Article
- Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.Scientific reports · 2021Article
- Genetic disorders and male infertility.Reproductive medicine and biology · 2020Review
- Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.BMC endocrine disorders · 2020Article
- Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review.Molecular cytogenetics · 2019Article
- Genetic evaluation of patients with non-syndromic male infertility.Journal of assisted reproduction and genetics · 2018Review
- A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.Journal of assisted reproduction and genetics · 2017Article
- The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.Human molecular genetics · 2016Article
- A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia.Reproductive sciences (Thousand Oaks, Calif.) · 2016Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Secretory azoospermia is a severe form of male infertility caused by unknown factors. DAX-1 is predominantly expressed in mammalian reproductive tissues and plays an important role in spermatogenesis because Dax-1 knockout male mice show spermatogenesis defects. To examine whether DAX-1 is involved in the pathogenesis of secretory azoospermia in humans, we sequenced all of the exons of DAX-1 in 776 patients diagnosed with secretory azoospermia and 709 proven fertile men. A number of coding mutations unique to the patient group, including two synonymous mutations and six missense mutations, were identified. Of the missense mutations, our functional assay demonstrated that the V385L mutation caused the reduced functioning of DAX-1. This novel mutation (p. V385L) of DAX-1 is the first to be identified in association with secretory azoospermia, thereby highlighting the important role of DAX-1 in spermatogenesis.
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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.