ArticleMolecular genetics & genomic medicine2020
Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Rapid and Sensitive Detection ofHuman mutation · 2026Article
- RNF20 is required for male fertility through regulation of H2B ubiquitination in the Sertoli cells.Cell & bioscience · 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
- Identification of new candidate genes for spina bifida through exome sequencing.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Paternal USP26 mutations raise Klinefelter syndrome risk in the offspring of mice and humans.The EMBO journal · 2021Article
- Review
- Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUbiquitin-Specific Peptidase 26 (USP26), located on the X chromosome, encodes a deubiquitinating enzyme expressed mainly in testis, where it regulates protein turnover during spermatogenesis and modulates the ubiquitination levels of the Androgen Receptor (AR), and as a consequence, affects AR signaling.
methodsThe patient was thoroughly characterized clinically. He was genetically tested by chromosome analysis and whole exome sequencing (WES).
resultsThe patient was diagnosed with Sertoli cell-only syndrome pattern (SCOS). The WES analysis revealed only the variation in USP26: causing p.P469S in a highly evolutionary conserved amino acid as the possible cause for SCOS. The literature search identified 34 single variations and 14 clusters of variations in USP26 that were associated with male infertility. Only one of the 22 variations and of one cluster of three mutations tested for ubiquitination activity was found as damaging. Only one out of six variations tested for effect on AR function was found as damaging. Thus, the association of USP26 with male fertility was questioned.
conclusionsThe finding in our patient and the discussion on the reviewed literature support a possible role for USP26 in male fertility.
Indexed as
Identifiers
What OpenQuestion holds
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.