ArticleJournal of medical genetics2021
Bi-allelic
Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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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
23 citing papers in PubMed, 38 citations in OpenAlex.
- Novel variants in LINC and TTM complexes of meiotic chromosome dynamics are associated with meiotic arrest and non-obstructive azoospermia.Journal of human genetics · 2026Article
- Variants in ZZS Complex-Associated Genes TEX11 and M1AP Are Responsible for Male Infertility and Nonobstructive Azoospermia.Andrology · 2026Article
- XPF-like domain in human SHOC1 is required for crossover formation and protecting autosome from MSUC.Nucleic acids research · 2026Article
- Maternal epigenetic signatures are associated with small for gestational age births among black women.Epigenetics insights · 2026Article
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Compound heterozygous REC114 variants in dizygotic twins causes meiotic arrest and non-obstructive azoospermia.Basic and clinical andrology · 2025Article
- Bi-allelic KCTD19 variants associated with meiotic arrest and non-obstructive azoospermia in humans.Journal of human genetics · 2025Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.Human reproduction open · 2024Article
- Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia.Journal of human genetics · 2023Article
- Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia.Journal of human genetics · 2023Article
- Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.Cell cycle (Georgetown, Tex.) · 2023Article
- Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans.Human genetics · 2023Article
- Landscape of pathogenic mutations in premature ovarian insufficiency.Nature medicine · 2023Article
- Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.BMC medical genomics · 2022Article
- In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.Molecular genetics and genomics : MGG · 2022Article
- Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia.Reproductive biology and endocrinology : RB&E · 2022Article
- RNA-binding protein ELAVL2 plays post-transcriptional roles in the regulation of spermatogonia proliferation and apoptosis.Cell proliferation · 2021Article
- Genetics of Azoospermia.International journal of molecular sciences · 2021Review
- Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.American journal of human genetics · 2021Article
Corrections and comments
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Authors and funding
18 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear.
methodsTwo Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his elder sister suffered from infertility. Whole-exome sequencing (WES) was conducted in the two patients in family 1, the proband in family 2 and 362 additional sporadic patients with idiopathic NOA. Sanger sequencing was used to verify the WES results. Periodic acid-Schiff (PAS), immunohistochemistry (IHC) and meiotic chromosomal spread analyses were carried out to evaluate the stage of spermatogenesis arrested in the affected cases.
resultsWe identified compound heterozygous loss of function (LoF) variants of
conclusionTo the best of our knowledge, this is the first report identifying
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.