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
PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.
Hu SW et al.
Nature Communications, 2025
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss.
Xiao Y et al.
Human Genetics, 2024
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li Q et al.
Bmc Medical Genomics, 2022
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
Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.
Qi M et al.
Birth Defects Research, 2021
Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.
Hu H et al.
Medicine, 2021
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
Booth KT et al.
International Journal of Molecular Sciences, 2020
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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.
Li-Yang MN et al.
Chinese Medical Journal, 2015
The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways.
Van Rossom S et al.
Frontiers in Cellular Neuroscience, 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
Functional conservation of Gsdma cluster genes specifically duplicated in the mouse genome.
Tanaka S et al.
G3 (bethesda, Md.), 2013
DFNA5, a gene involved in hearing loss and cancer: a review.
de Beeck KO et al.
The Annals of Otology, Rhinology, and Laryngology, 2012
The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae.
Van Rossom S et al.
Frontiers in Oncology, 2012
The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.
Op de Beeck K et al.
European Journal of Human Genetics : Ejhg, 2011
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.
Park HJ et al.
Journal of Human Genetics, 2010
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