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 in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics

5 Jun 2020

Abstract excerpt

BACKGROUND: Oligoteratoasthenozoospermia (OTA) combines deteriorated quantity, morphology and motility of the sperm, resulting in male factor infertility. METHODS: We used whole genome genotyping and exome sequencing to identify the mutation causing OTA in four men in a consanguineous Bedouin family. We expressed the normal and mutated proteins tagged with c-Myc at the carboxy termini by transfection with...

Read the complete abstract on PubMed

Topics

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

Share to Genetic and Kidney Cyst Diseases
Share to Plant Reproductive Biology
Share to Sperm and Testicular Function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32503832
DOI: 10.1136/jmedgenet-2019-106825

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamicsPMID 32503832Read ↗

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.Semantic proximity Read ↗

A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family.Semantic proximity Read ↗

Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesiaSemantic proximity Read ↗

Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects.Semantic proximity Read ↗

A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.Semantic proximity Read ↗

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with <i>ACTB</i> mutationsSemantic proximity Read ↗

Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.Semantic proximity Read ↗

Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility.Semantic proximity Read ↗

Aberrant acetylation caused by a CDYL splicing mutation contributes to thin mid-piece related asthenoteratozoospermia and male infertility.Semantic proximity Read ↗

Loss of SPACA1 function causes autosomal recessive globozoospermia by damaging the acrosome–acroplaxome complexSemantic proximity Read ↗

Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and miceSemantic proximity Read ↗

Novel bi-allelic DNAH3 variants cause oligoasthenoteratozoospermia.Semantic proximity Read ↗

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