ArticleJournal of medical genetics2019
Biallelic mutations in
Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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.
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Who cites it
49 citing papers in PubMed, 99 citations in OpenAlex.
- Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia.BMC medical genomics · 2026Article
- Biallelic FSIP2 variants are associated with sperm defective chromatin condensation beyond MMAF and acrosomal abnormalities.Journal of assisted reproduction and genetics · 2026Article
- A novel homozygous frameshift mutation in CFAP65 is associated with multiple morphological abnormalities of sperm flagella in a consanguineous Pakistani family.Basic and clinical andrology · 2026Article
- Proteomic composition and mutual assembly of the C2a projection in vertebrate motile cilia.eLife · 2026Article
- Novel biallelic DNHD1 variants associated with male infertility with severe MMAF phenotype.Asian journal of andrology · 2026Article
- Centriole Duplication, Maturation, and Transformation During Mammalian Spermatogenesis.Advances in experimental medicine and biology · 2026Review
- CFAP251 Deficiency Induces Male Infertility and PCD-like Ciliary Defects by Disrupting TUBB4B and SLC25A4 Recruitment in Humans and Mice.International journal of biological sciences · 2026Article
- Article
- A review of genetic variation underlying chicken phenotypic diversity.Poultry science · 2025Review
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Establishing the causative link between CFAP221 variants and asthenoteratozoospermia in humans.Journal of assisted reproduction and genetics · 2025Article
- CFAP65 is essential for C2a projection integrity in axonemes: implications for organ-specific ciliary dysfunction and infertility.Cellular and molecular life sciences : CMLS · 2025Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Review
- The expression and clinical significance of CFAP65 in colon cancer.BMC gastroenterology · 2024Article
- The Role of Tubulin Polymerization-Promoting Protein2 (TPPP2) in Spermatogenesis: A Narrative Review.International journal of molecular sciences · 2024Review
- Review
- Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella.Journal of assisted reproduction and genetics · 2024Article
- Gene-knockout by iSTOP enables rapid reproductive disease modeling and phenotyping in germ cells of the founder generation.Science China. Life sciences · 2024Article
- Bi-allelic variants inHuman reproduction open · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe genetic causes for most male infertility due to severe asthenozoospermia remain unclear.
objectiveOur objective was to identify unknown genetic factors in 47 patients with severe asthenozoospermia from 45 unrelated Chinese families.
methodsWe performed whole exome sequencing of 47 individuals with severe asthenozoospermia from 45 unrelated families. Mutation screening was performed in a control cohort of 637 individuals, including 219 with oligoasthenospermia, 195 with non-obstructive azoospermia and 223 fertile controls. Ultrastructural and immunostaining analyses of patients' spermatozoa were performed to characterise the effect of variants.
resultsOne homozygous non-sense mutation (NM_194302, c.G5341T:p.E1781X), two compound heterozygous mutations (c.C2284T:p.R762X and c.1751delC:p.P584fs) and two compound heterozygous mutations (c.5714_5721del:p.L1905fs and c.C3021A:p.N1007K) were identified in
conclusionTo the best of our knowledge, we are the first to report that
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.