ReviewFrontiers in cell and developmental biology2021
Genes Regulating Spermatogenesis and Sperm Function Associated With Rare Disorders.
Review in Frontiers in cell and developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 57 citations in OpenAlex.
- Human Sperm Centrosome: From Current Evidence to Future Perspectives-A Systematic Review.Life (Basel, Switzerland) · 2026Review
- Male infertility.Systems biology in reproductive medicine · 2025Review
- Article
- Novel insights into the lipid signalling in human spermatozoa.Human reproduction (Oxford, England) · 2025Review
- Male Infertility and Reduced Life Expectancy: Epidemiology, Mechanisms, and Clinical Implications.Journal of clinical medicine · 2025Review
- Epigenetics of nonobstructive azoospermia.Asian journal of andrology · 2025Review
- Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes.Journal of assisted reproduction and genetics · 2025Article
- Adverse Effects of Nicotine on Human Sperm Nuclear Proteins.The world journal of men's health · 2025Review
- Assessment of HJV and SMN1 gene expression levels in infertile men: laboratory and bioinformatic approaches.Molecular biology reports · 2025Article
- From waste to health: exploring the male sexuality enhancing activities of the bioactive components of orange peel.Frontiers in endocrinology · 2025Review
- Untargeted metabolomics fingerprints in seminal plasma of patients with abnormal sperm morphology using high-performance liquid chromatography and mass spectrometry.Frontiers in molecular biosciences · 2025Article
- Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.Cellular and molecular life sciences : CMLS · 2024Article
- Single Sperm RNA signatures reveal MicroRNA biomarkers for male subfertility.Journal of assisted reproduction and genetics · 2024Article
- Mettl1-dependent mNature communications · 2024Article
- Sperm DNA Fragmentation: Unraveling Its Imperative Impact on Male Infertility Based on Recent Evidence.International journal of molecular sciences · 2024Review
- Hirsutella sinensis intensifies testicular function and spermatogenesis in male mice with high-fat diet-induced obesity.Journal of the Chinese Medical Association : JCMA · 2024Article
- Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers.Neurology and therapy · 2024Article
- Accurate and efficient integrative reference-informed spatial domain detection for spatial transcriptomics.Nature methods · 2024Article
- The effects of inhaled pollutants on reproduction in marginalized communities: a contemporary review.Inhalation toxicology · 2024Review
- Determinant genetic markers of semen quality in livestock.Frontiers in endocrinology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spermatogenesis is a cell differentiation process that ensures the production of fertilizing sperm, which ultimately fuse with an egg to form a zygote. Normal spermatogenesis relies on Sertoli cells, which preserve cell junctions while providing nutrients for mitosis and meiosis of male germ cells. Several genes regulate normal spermatogenesis, some of which are not exclusively expressed in the testis and control multiple physiological processes in an organism. Loss-of-function mutations in some of these genes result in spermatogenesis and sperm functionality defects, potentially leading to the insurgence of rare genetic disorders. To identify genetic intersections between spermatogenesis and rare diseases, we screened public archives of human genetic conditions available on the Genetic and Rare Diseases Information Center (GARD), the Online Mendelian Inheritance in Man (OMIM), and the Clinical Variant (ClinVar), and after an extensive literature search, we identified 22 distinct genes associated with 21 rare genetic conditions and defective spermatogenesis or sperm function. These protein-coding genes regulate Sertoli cell development and function during spermatogenesis, checkpoint signaling pathways at meiosis, cellular organization and shape definition during spermiogenesis, sperm motility, and capacitation at fertilization. A number of these genes regulate folliculogenesis and oogenesis as well. For each gene, we review the genotype-phenotype association together with associative or causative polymorphisms in humans, and provide a description of the shared molecular mechanisms that regulate gametogenesis and fertilization obtained in transgenic animal models.
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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 Socratic graph.