Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation Severity of FBXO43 Determines Spermatogenic Outcome and Informs Precision ART Strategies.

Human mutation - 1 Jan 2026

Xiao Yanqin, He Yutong, Meng Lanlan, Zhang Huan, Tu Chaofeng, Tan Yueqiu, Hu Liang

Abstract excerpt

Objective: FBXO43 is a known inhibitor of the anaphase-promoting complex/cyclosome (APC/C), a key E3 ubiquitin ligase that controls meiotic cell cycle progression. However, how different FBXO43 mutations affect APC/C inhibition and lead to divergent clinical phenotypes remains unclear. This study is aimed at clarifying how different FBXO43 mutations produce divergent clinical phenotypes in male infertility and to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anaphase-Promoting Complex-Cyclosome
Share to Azoospermia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to F-Box Proteins

Share to HEK293 Cells

Share to Infertility, Male

Share to Reproductive Techniques, Assisted

Share to Spermatogenesis

Source

Open in PubMed Open full text

Identifiers

PMID: 42597893
DOI: 10.1155/humu/7905936
PMCID: PMC13469765

Genes

FBXO43
APC
APC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation Severity of FBXO43 Determines Spermatogenic Outcome and Informs Precision ART Strategies.PMID 42597893Read ↗

A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia.Semantic proximity Read ↗

Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.Semantic proximity Read ↗

Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomesSemantic proximity Read ↗

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated miceSemantic proximity Read ↗

Novel NUP210L Variants Cause Fertilization Failure and Male Infertility in Humans.Semantic proximity Read ↗

TEX43, a Testis-Enriched Microtubule-Associated Gene, Exerts Minimal Impact on Spermatogenesis and Fertility in Mice and HumansSemantic proximity Read ↗

Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermiaSemantic proximity Read ↗

Novel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia.Semantic proximity Read ↗

Loss-of-function variant in TEX44 cause male infertility with asthenoteratozoospermia in humans and miceSemantic proximity Read ↗

Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.Semantic proximity Read ↗

Infertile females with biallelic mutations in APC/C genes are characterized by oocyte or early embryo defects.Semantic proximity Read ↗

A common cause of non-obstructive azoospermia: biallelic MEI1 variants and implications for infertility diagnostics.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.