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

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.

Asian journal of andrology - 1 Jan 2000

Zubair Muhammad, Khan Ranjha, Ma Ao, Hameed Uzma, Khan Mazhar, Abbas Tanveer, Ahmad Riaz, Zhou Jian-Teng, Shah Wasim, Hussain Ansar, Ahmed Nisar, Khan Ihsan, Khan Khalid, Zhang Yuan-Wei, Zhang Huan, Wu Li-Min, Shi Qing-Hua

Abstract excerpt

Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103 (CCDC103) is an outer dynein arm assembly factor, and pathogenic variants of CCDC103 cause primary ciliary dyskinesia (PCD). However, whether CCDC103...

Read the complete abstract on PubMed

Topics

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

Share to Asthenozoospermia
Share to Dyneins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Microtubule-Associated Proteins

Share to Mutation

Share to Mutation, Missense

Share to Sperm and Testicular Function

Share to Sperm Tail

Source

Open in PubMed Open full text

Identifiers

PMID: 35259782
DOI: 10.4103/aja2021122
PMCID: PMC9226689

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.PMID 35259782Read ↗

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

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

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

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

Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility.Semantic proximity Read ↗

A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.Semantic proximity Read ↗

Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.Semantic proximity Read ↗

Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia.Semantic proximity Read ↗

A Novel Compound Heterozygous Mutation in TDRD9 Causes Oligozoospermia.Semantic proximity Read ↗

A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella.Semantic proximity Read ↗

Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.Semantic proximity Read ↗

The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient.Semantic proximity Read ↗

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