ReviewHuman genetics2019
New insights into the genetics of spermatogenic failure: a review of the literature.
Review in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 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
42 citing papers in PubMed, 86 citations in OpenAlex.
- Novel IFT140 variants cause spermatogenic dysfunction in humans.Molecular genetics & genomic medicine · 2019Trial
- Homozygous C12orf40 variant contributes to severe oligoasthenoteratozoospermia and sperm sex chromosome aneuploidy.Journal of assisted reproduction and genetics · 2026Article
- Genetic and functional analysis reveals novel mutations in meiotic genes underlying non-obstructive azoospermia.Journal of assisted reproduction and genetics · 2025Article
- Seminal FBiology · 2025Article
- Emerging roles and therapeutic potential of tRNA-Derived small RNAs in reproductive system diseases: a review.Frontiers in cell and developmental biology · 2025Review
- Human-specific epigenomic states in spermatogenesis.Computational and structural biotechnology journal · 2024Article
- Molecular characterization of DNAH6 and ATPase6 (Mitochondrial DNA) genes in asthenozoospermia patients in the northern region of India.BMC urology · 2024Article
- Behind the Genetics: The Role of Epigenetics in Infertility-Related Testicular Dysfunction.Life (Basel, Switzerland) · 2024Review
- Mitochondrial dysfunction signatures in idiopathic primary male infertility: a validated proteomics-based diagnostic approach.Frontiers in reproductive health · 2024Article
- 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
- The construction of a testis transcriptional cell atlas from embryo to adult reveals various somatic cells and their molecular roles.Journal of translational medicine · 2023Article
- Transcriptome Studies Reveal theAnimals : an open access journal from MDPI · 2023Article
- NECL2 regulates blood-testis barrier dynamics in mouse testes.Cell and tissue research · 2023Article
- Analysis of 29 Targeted Genes for Non-Obstructive Azoospermia: The Relationship between Genetic Testing and Testicular Histology.The world journal of men's health · 2023Article
- The Renaissance of Male Infertility Management in the Golden Age of Andrology.The world journal of men's health · 2023Review
- Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report.World journal of clinical cases · 2022Article
- Human obstructive (postvasectomy) and nonobstructive azoospermia - Insights from scRNA-Seq and transcriptome analysis.Genes & diseases · 2022Article
- Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.BMC medical genomics · 2022Article
- Contribution ofFrontiers in cell and developmental biology · 2022Article
- The I510V mutation in KLHL10 in a patient with oligoasthenoteratozoospermia.The Journal of reproduction and development · 2021Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic anomalies are known to affect about 15% of infertile patients with azoospermia or severe oligozoospermia. Despite a throughout diagnostic work-up, in up to the 72% of the male partners of infertile couples, no etiological factor can be found; hence, the cause of infertility remains unclear. Recently, several novel genetic causes of spermatogenic failure (SPGF) have been described. The aim of this review was to collect all the available evidence of SPGF genetics, matching data from in-vitro and animal models with those in human beings to provide a comprehensive and updated overview of the genes capable of affecting spermatogenesis. By reviewing the literature, we provided a list of 60 candidate genes for SPGF. Their investigation by Next Generation Sequencing in large cohorts of patients with apparently idiopathic infertility would provide new interesting data about their racial- and ethnic-related prevalence in infertile patients, likely raising the diagnostic yields. We propose a phenotype-based approach to identify the genes to look for.
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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.