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

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

Genetic testing and molecular biomarkers - 1 Aug 2024

Liu Zhonglin, Wang Chunyan, Ni Feng, Li Tingshu, Yang Fenglian, Wei Han, Li Tengyan, Huang Changhui, Wang Junli, Wang Binbin

Abstract excerpt

Aims: Asthenozoospermia is the most common factor of male infertility, mainly caused by multiple morphological abnormalities of the sperm flagella (MMAF) and primary ciliary dyskinesia (PCD). Previous studies have shown that genetic factors may contribute to MMAF and PCD. The study aimed to identify novel potentially pathogenic gene mutations in a Chinese infertile man with MMAF and PCD-like phenotypes. Methods:...

Topics

Join the communities discussing this publication.

Asthenozoospermia
Ciliary Motility Disorders
East Asian People
Exome Sequencing
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infertility, Male

Mutation, Missense

Source

Identifiers

PMID: 38837151
DOI: 10.1089/gtmb.2023.0263

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.PMID 38837151Read ↗

CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.Semantic proximity Read ↗

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

CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.Semantic proximity Read ↗

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.Semantic proximity Read ↗

Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.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 ↗

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

Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener SyndromeSemantic proximity Read ↗

A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertilitySemantic proximity Read ↗

Novel IFT140 variants cause spermatogenic dysfunction in humansSemantic proximity Read ↗

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

Characterization of a DRC1 null variant associated to primary ciliary dyskinesia and female infertilitySemantic proximity Read ↗

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