ReviewHuman genetics2021
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Review in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 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
71 citing papers in PubMed, 129 citations in OpenAlex.
- Application of Whole-Exome Sequencing in Identifying the Molecular Basis of Idiopathic Male Infertility.Journal of clinical medicine · 2026Review
- A novel hemizygous missense variant in the BEND2 gene is associated with nonobstructive azoospermia.Asian journal of andrology · 2026Article
- Whole-genome sequencing identifies a potentially causative homozygous splicing variant inInternational journal of reproductive biomedicine · 2026Article
- Multi-omic screening identifies RBMXL3 as a primate-specific RNA-binding protein and candidate regulator of RNA metabolism in human spermatogenesis.Cellular & molecular biology letters · 2026Article
- Identification of biomarkers related to amino acid metabolism in nonobstructive azoospermia by bioinformatics.Medicine · 2026Article
- Article
- Gene therapy for non-obstructive azoospermia: therapeutic avenues and translational pathway to clinical application.Frontiers in genome editing · 2026Review
- FOXP1 Promotes Spermatogonial Stem Cell Proliferation by Transcriptionally Repressing GSK3B to Activate the Wnt/β-Catenin Signaling Pathway.Stem cells international · 2026Article
- A homozygousFrontiers in endocrinology · 2026Article
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Regulatory Roles of MicroRNAs in Female and Male Human Reproduction: A Narrative Review.Iranian journal of medical sciences · 2025Review
- MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans.Cell death discovery · 2025Article
- Establishment and clinical significance of genetic factor screening method for patients with nonobstructive azoospermia based on whole exon sequencing technology.Translational andrology and urology · 2025Article
- Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes.Journal of assisted reproduction and genetics · 2025Article
- Novel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia.Asian journal of andrology · 2025Article
- Altered Sertoli Cell Function Contributes to Spermatogenic Arrest in Dogs with Chronic Asymptomatic Orchitis.International journal of molecular sciences · 2025Article
- MTMR7 regulates human spermatogonial stem cells proliferation and migration via targeting FLNB.PloS one · 2025Article
- Single-cell sequencing in non-obstructive azoospermia: insights from primary and re-analysis studies.Frontiers in endocrinology · 2025Review
- Chronic asymptomatic orchitis in dogs alters Sertoli cell number and maturation status.Frontiers in veterinary science · 2025Article
- Reproductive genetics and health.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the ejaculate. Currently, ~ 20% of azoospermia cases remain idiopathic. Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. High genetic heterogeneity due to the complexity of spermatogenesis and testicular function, lack of non-consanguineous familial cases and confirmatory studies challenge the field. The reported monogenic defects cause syndromic NOA phenotypes presenting also additional congenital problems and isolated NOA cases, explained by spermatogenic defects. The established and recently reported NOA genes (n = 38) represent essential guardians of meiosis, transcriptional and endocrine regulators of reproduction. Despite the list being short, 92% of these loci are predicted to functionally interact with each other (STRING analysis: average 5.21 connections/gene, enrichment P < 10
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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.