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

Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation

12 Dec 2024

Abstract excerpt

BACKGROUND: Acephalic spermatozoa syndrome is a rare but severe type of teratozoospermia. The familial trait of acephalic spermatozoa syndrome suggests that genetic factors play an important role. However, known mutations account for only some acephalic spermatozoa syndrome patients, and more studies are needed to elucidate its pathogenesis. The current study aimed to elucidate the pathogenesis of acephalic...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Associations and Epidemiology
Share to Genomics and Rare Diseases
Share to Sperm and Testicular Function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39668357
DOI: 10.1186/s12610-024-00240-3

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

Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutationPMID 39668357Read ↗

Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutationSemantic proximity Read ↗

A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome.Semantic proximity Read ↗

Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case reportSemantic proximity Read ↗

Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.Semantic proximity Read ↗

Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects.Semantic proximity Read ↗

Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection.Semantic proximity Read ↗

Loss-of-function mutation in TSGA10 causes acephalic spermatozoa phenotype in human.Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of a patient with Acephalic spermatozoa syndrome due to variant of PMFBP1 gene].Semantic proximity Read ↗

Pathogenic Variants in ACTRT1 Cause Acephalic Spermatozoa SyndromeSemantic proximity Read ↗

Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility.Semantic proximity Read ↗

Genetic pathogenesis of acephalic spermatozoa syndrome: past, present, and future.Semantic proximity Read ↗

[Advances in the molecular genetic studies of acephalic spermatozoa syndrome].Semantic proximity Read ↗

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