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

Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.

Human molecular genetics - 4 Jul 2023

Hua Juan, Xu Bo, Liu Wenjing, Shi JingTian, Jiang Hui, Zha XiaoJun, Zhang Xiansheng, Wan Yangyang

Abstract excerpt

Several different mutations in the proteome of centriole 1 centriolar protein B (POC1B) have been linked to cone dystrophy or cone-rod dystrophy (CORD). However, mutations in POC1B that are associated with both CORD and oligoasthenoteratozoospermia (OAT) have not been reported previously. Here, whole-exome sequencing was performed to identify a homozygous frameshift variant (c.151delG) in POC1B in the two...

Read the complete abstract on PubMed

Topics

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

Share to Asthenozoospermia
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cone-Rod Dystrophies

Share to Infertility, Male

Share to Mutation

Share to Oligospermia

Source

Identifiers

PMID: 37070736
DOI: 10.1093/hmg/ddad061

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.PMID 37070736Read ↗

Mutation of POC1B in a severe syndromic retinal ciliopathy.Semantic proximity Read ↗

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod DystrophySemantic proximity Read ↗

Novel recessive cone-rod dystrophy caused by POC1B mutation.Semantic proximity Read ↗

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.Semantic proximity Read ↗

Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.Semantic proximity Read ↗

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.Semantic proximity Read ↗

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

Study on gene knockout mice and human mutant individual reveals absence of CEP78 causes photoreceptor and sperm flagella impairmentsSemantic proximity Read ↗

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

Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.Semantic proximity Read ↗

Disruption in <i>CYLC1</i> leads to acrosome detachment, sperm head deformity, and male in/subfertility in humans and miceSemantic proximity Read ↗

A homozygous POC1B variant causes recessive cone-rod dystrophy.Semantic proximity Read ↗

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