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 novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family.

Human genomics - 2 Jul 2024

Zhang Luping, Zheng Danya, Xu Lian, Wang Han, Zhang Shuqiang, Shi Jianhua, Jin Nana

Abstract excerpt

Knockout of GAS2 (growth arrest-specific protein 2), causes disorganization and destabilization of microtubule bundles in supporting cells of the cochlear duct, leading to hearing loss in vivo. However, the molecular mechanism through which GAS2 variant results in hearing loss remains unknown. By Whole-exome sequencing, we identified a novel heterozygous splicing variant in GAS2 (c.616-2 A > G) as the only...

Read the complete abstract on PubMed

Topics

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

Share to Apoptosis
Share to Deafness
Share to East Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genes, Dominant

Share to Microtubules

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 38956677
DOI: 10.1186/s40246-024-00628-2
PMCID: PMC11218307

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family.PMID 38956677Read ↗

A novel Variant in GAS2 Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a Chinese FamilySemantic proximity Read ↗

Association between UBAC2 gene polymorphism and the risk of noise-induced hearing loss: a cross-sectional study.Semantic proximity Read ↗

A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.Semantic proximity Read ↗

Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.Semantic proximity Read ↗

Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness.Semantic proximity Read ↗

New MORC2 gene mutations are associated with distinctive features: from axonal neuropathy to late adult-onset spinal muscular atrophy like phenotypeSemantic proximity Read ↗

GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.Semantic proximity Read ↗

GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.Semantic proximity Read ↗

Overexpression ofKLC2due to a homozygous deletion in the non-coding region causes SPOAN syndromeSemantic proximity Read ↗

Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing lossSemantic proximity Read ↗

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.Semantic proximity Read ↗

OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.Semantic proximity Read ↗

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