ArticleReproductive sciences (Thousand Oaks, Calif.)2016
A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia.
Article in Reproductive sciences (Thousand Oaks, Calif.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis.PloS one · 2025Pooled it
- The association between mutations in ubiquitin-specific protease 26 (Asian journal of andrologyPooled it
- The Potential Role of Deubiquitinating Enzymes (DUBs) in Male Fertility.Biomolecules · 2026Review
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.Cell cycle (Georgetown, Tex.) · 2023Article
- Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.Cellular and molecular life sciences : CMLS · 2023Review
- Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature.Frontiers in genetics · 2022Review
- Paternal USP26 mutations raise Klinefelter syndrome risk in the offspring of mice and humans.The EMBO journal · 2021Article
- Novel Mutations in X-Linked,Cells · 2021Article
- Genome diversity and instability in human germ cells and preimplantation embryos.Seminars in cell & developmental biology · 2021Article
- Association of ESX1 gene variants with non-obstructive azoospermia in Chinese males.Scientific reports · 2021Article
- The X chromosome and male infertility.Human genetics · 2021Review
- Genetic disorders and male infertility.Reproductive medicine and biology · 2020Review
- Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient.Molecular genetics & genomic medicine · 2020Article
- A novel frameshift mutation in ubiquitin-specific protease 26 gene in a patient with severe oligozoospermia.Bioscience reports · 2020Article
- Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic.Journal of clinical medicine · 2020Review
- Recent advances in mammalian reproductive biology.Science China. Life sciences · 2020Review
- Usp26 mutation in mice leads to defective spermatogenesis depending on genetic background.Scientific reports · 2019Article
- Ubiquitin-specific protease 26 (USP26) is not essential for mouse gametogenesis and fertility.Chromosoma · 2019Article
- TGF-β signaling pathway mediated by deubiquitinating enzymes.Cellular and molecular life sciences : CMLS · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe aim of this study was to evaluate whether ubiquitin-specific peptidase 26 (USP26) gene variations were associated with nonobstructive azoospermia (NOA).
methodsSeven hundred and seventy-six patients diagnosed with NOA and 709 proven fertile men were included in this study. Genetic variations of infertility-related genes, including USP26, were identified by selected exonic sequencing. The effects of USP26 mutations on androgen receptor (AR) binding, ubiquitination, and transcriptional activity were detected by immunoprecipitation and luciferase assay in Hela and TM4 cells.
resultsSix novel missense mutations and 1 novel synonymous mutation of USP26 unique to the patients with NOA were identified. Of these missense mutations, USP26 R344W remarkably reduced the binding affinity and deubiquitinating activity of USP26 to AR, thus eliminated the inhibitory effect of USP26 on transcriptional activity of AR in Hela and TM4 cells.
conclusionA novel USP26 variant p.R344W is associated with NOA probably through affecting AR function.
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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.