ArticleMolecular medicine reports2016
A novel variant of androgen receptor is associated with idiopathic azoospermia.
Article in Molecular medicine reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 13 citations in OpenAlex.
- A comparison of the expression patterns and diagnostic capability of the ncRNAs NEAT1 and miR-34a in non-obstructive azoospermia and severe oligospermia.Human genomics · 2025Article
- Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia.Frontiers in genetics · 2022Article
- Protective effects of Korean Red Ginseng against sub-acute immobilization stress-induced testicular damage in experimental rats.Journal of ginseng research · 2019Article
- Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study.Medicine · 2018Article
- Endocrine aberrations of human nonobstructive azoospermia.Asian journal of andrologyReview
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A variety of genetic variants can lead to abnormal human spermatogenesis. The androgen receptor (AR) is an important steroid hormone receptor that is critical for male sexual differentiation and the maintenance of normal spermatogenesis. In the present study, each exon of AR in 776 patients diagnosed with idiopathic azoospermia (IA) and 709 proven fertile men were sequenced using use panel re‑sequencing methods to examine whether AR is involved in the pathogenesis of IA. Two synonymous variants and seven missense variants were detected. Of the missense variants, a luciferase assay demonstrated that the R630W variant reduced the transcriptional regulatory function of AR. This novel variant (p. R630W) of AR is the first to be identified in association with IA, thereby highlighting the importance of AR during spermatogenesis.
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Registered trials
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