Ontology highlight
ABSTRACT:
SUBMITTER: Zhu GJ
PROVIDER: S-EPMC7553308 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Zhu Guang-Jie GJ Gong Sihao S Ma Deng-Bin DB Tao Tao T He Wei-Qi WQ Zhang Linqing L Wang Fang F Qian Xiao-Yun XY Zhou Han H Fan Chi C Wang Pei P Chen Xin X Zhao Wei W Sun Jie J Chen Huaqun H Wang Ye Y Gao Xiang X Zuo Jian J Zhu Min-Sheng MS Gao Xia X Wan Guoqiang G
PLoS genetics 20200924 9
Genetic hearing loss is a common health problem with no effective therapy currently available. DFNA15, caused by mutations of the transcription factor POU4F3, is one of the most common forms of autosomal dominant non-syndromic deafness. In this study, we established a novel mouse model of the human DFNA15 deafness, with a Pou4f3 gene mutation (Pou4f3Δ) identical to that found in a familial case of DFNA15. The Pou4f3(Δ/+) mice suffered progressive deafness in a similar manner to the DFNA15 patien ...[more]