ReviewHuman genetics2021
A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse.
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 36 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
36 citing papers in PubMed, 59 citations in OpenAlex.
- WFS1 Deficiency Impairs PIAS4-Associated SUMOylation and Increases Ubiquitin-Mediated Spermatogenesis-Related Protein Degradation Leading to Testicular Male Infertility.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- A Western-style diet exacerbates male infertility in M1ap knockout mice.Human reproduction (Oxford, England) · 2026Article
- CRISPR/Cas9-mediated genome editing identifies six testis-expressed genes individually dispensable for overt male fecundity in mice.Journal of biomedical research · 2026Article
- Depletion of CX3CR1Mucosal immunology · 2026Article
- Normal Fertility of Dnajb13 (exon2 KO)/(exon2 c.106T > C Mut) Compound Heterozygous Mutant Male Mice.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- A comparison of spermatogenesis between flies and men-conserved processes of male gamete production.Human reproduction update · 2025Review
- CCDC89 is required for optimal sperm motility and male fertility in mammals.Human reproduction (Oxford, England) · 2025Article
- Delta tubulin stabilizes male meiotic kinetochores and aids microtubule remodeling and fertility.The Journal of cell biology · 2025Article
- A novel mechanism of sperm midpiece epididymal maturation and the role of CCDC112 in sperm midpiece formation and establishing an optimal flagella waveform.Cell communication and signaling : CCS · 2025Article
- Article
- Novel Genes of the Male Reproductive System: Potential Roles in Male Reproduction and as Non-hormonal Male Contraceptive Targets.Molecular reproduction and development · 2024Review
- AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans.Cell death & disease · 2024Article
- Genetic mutation ofLife science alliance · 2024Article
- Epsilon tubulin is an essential determinant of microtubule-based structures in male germ cells.EMBO reports · 2024Article
- Gene-knockout by iSTOP enables rapid reproductive disease modeling and phenotyping in germ cells of the founder generation.Science China. Life sciences · 2024Article
- A partial deletion within the meiosis-specific sporulation domain SPO22 of Tex11 is not associated with infertility in mice.PloS one · 2024Article
- Dnali1 is required for sperm motility and male fertility in mice.Basic and clinical andrology · 2023Article
- The katanin A-subunits KATNA1 and KATNAL1 act co-operatively in mammalian meiosis and spermiogenesis to achieve male fertility.Development (Cambridge, England) · 2023Article
- Article
- Spastin is an essential regulator of male meiosis, acrosome formation, manchette structure and nuclear integrity.Development (Cambridge, England) · 2023Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 3 countries.
Funding
Abstract
Male infertility is a heterogeneous condition of largely unknown etiology that affects at least 7% of men worldwide. Classical genetic approaches and emerging next-generation sequencing studies support genetic variants as a frequent cause of male infertility. Meanwhile, the barriers to transmission of this disease mean that most individual genetic cases will be rare, but because of the large percentage of the genome required for spermatogenesis, the number of distinct causal mutations is potentially large. Identifying bona fide causes of male infertility thus requires advanced filtering techniques to select for high-probability candidates, including the ability to test causality in animal models. The mouse remains the gold standard for defining the genotype-phenotype connection in male fertility. Here, we present a best practice guide consisting of (a) major points to consider when interpreting next-generation sequencing data performed on infertile men, and, (b) a systematic strategy to categorize infertility types and how they relate to human male infertility. Phenotyping infertility in mice can involve investigating the function of multiple cell types across the testis and epididymis, as well as sperm function. These findings will feed into the diagnosis and treatment of male infertility as well as male health broadly.
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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.