Associated Papers
A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family.
Yang B et al.
Frontiers in Neurology, 2026
Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.
Wang X et al.
Scientific Reports, 2025
40595116 (PubMed )
Supplement: 41598_2025_6744_MOESM1_ESM.xls › Supplementary_Table_S2
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss.
Xiao Y et al.
Human Genetics, 2024
Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss.
Jin Z et al.
Acta Oto-laryngologica, 2022
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family.
Chen X et al.
Frontiers in Genetics, 2020
Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss.
Wang H et al.
Scientific Reports, 2018
Exonic mutations and exon skipping: Lessons learned from DFNA5.
Booth KT et al.
Human Mutation, 2018
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.
Li-Yang MN et al.
Chinese Medical Journal, 2015
A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family.
Chai Y et al.
International Journal of Pediatric Otorhinolaryngology, 2014
A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.
Nishio A et al.
Annals of Human Genetics, 2014
DFNA5, a gene involved in hearing loss and cancer: a review.
de Beeck KO et al.
The Annals of Otology, Rhinology, and Laryngology, 2012
[Molecular etiology of non-syndromic hearing impairment in a Chinese family].
Sun Q et al.
Zhonghua Yi Xue Za Zhi, 2009
A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.
Cheng J et al.
Clinical Genetics, 2007
Select a paper to view details