ArticleHuman reproduction open2026
Article in Human reproduction open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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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.
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Who cites it
1 citing paper in PubMed.
- Small-molecule modulators of HIPK4 activity and proteostasis.bioRxiv : the preprint server for biology · 2026Article
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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
study questionAre pathogenic variants in SUMMARY ANSWER: WHAT IS KNOWN ALREADY: Numerous genes have been described in which pathogenic variants cause male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF), but the genetic basis of sperm head defects is less well understood. STUDY DESIGN SIZE DURATION: This study included four infertile brothers displaying varying degrees of quantitatively and/or qualitatively impaired spermatogenesis, their parents, and their fertile brother. We also queried the Male Reproductive Genomics (MERGE) cohort comprising exome/genome sequencing data of >3300 men. PARTICIPANTS/MATERIALS SETTING
methodsWe performed exome sequencing in all five brothers and their parents. To characterize sperm phenotypes, we carried out standard semen analysis, immunofluorescence staining, and transmission electron microscopy (TEM). Further, we evaluated the impact of the MAIN RESULTS AND THE ROLE OF CHANCE: By analysing the exome data, we could not identify a common genetic cause in all four affected brothers. However, one of the affected brothers was compound heterozygous for two loss-of-function variants in LARGE-SCALE DATA: The reported variants in LIMITATIONS REASONS FOR CAUTION: Independent replication is required to assess the phenotypic spectrum and the reproductive outcome associated with biallelic WIDER IMPLICATIONS OF THE
findingsThis study raises awareness of the significant genetic heterogeneity of male infertility. The described family highlights that distinct genetic causes may underlie a seemingly similar phenotype. Exome sequencing of families is helpful to efficiently disentangle individual causes among affected family members.
fundingN.N., J.R., H.O., S.L., C.F., and F.T. were supported by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) within the Clinical Research Unit 'Male Germ Cells' (CRU326, project number 329621271). R.T.-W., N.N., J.R., H.O., and F.T. were supported by the Federal Ministry of Research, Technology and Space (BMFTR) as part of the project ReproTrack.MS (grant 01GR2303). S.A.K. was supported by the DFG Clinician Scientist programme CareerS Münster (project number 493624047). A.S.G. was supported by the Medical Faculty Münster via an Innovative Medical Research (IMF) grant (GA-122104). DISCLOSURES: The authors declare no conflicts of interest.
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