On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice
-
Published:2021-03
Issue:
Volume:401
Page:108162
-
ISSN:0378-5955
-
Container-title:Hearing Research
-
language:en
-
Short-container-title:Hearing Research
Author:
Verdoodt Dorien,
Van Camp Guy,
Ponsaerts PeterORCID,
Van Rompaey Vincent
Reference47 articles.
1. Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder;Bae;Hum. Mutat.,2014
2. Cochlin in autoimmune inner ear disease: is the search for an inner ear autoantigen over?;Baruah;Auris Nasus Larynx,2014
3. Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss 2020.
4. Histopathology of the human inner ear in the p.L114P COCH mutation (DFNA9);Burgess;Audiol. Neurootol.,2016
5. Cochlin expression in vestibular endorgans obtained from patients with Meniere's disease;Calzada;Cell Tissue Res.,2012
Cited by
21 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献