about
Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.Cochlin produced by follicular dendritic cells promotes antibacterial innate immunityExtralabyrinthine manifestations of DFNA9Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing lossMassively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.Sequencing of exons 4, 5, 12 of COCH gene in patients with postlingual sensorineural hearing loss accompanied by vestibular lesion.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossGenes important for otoneurological diagnostic purposes - current status and future prospects
P2860
Q28511832-3F56DE51-70B3-4D2D-BB6C-C37CA5BA23A7Q28513228-1BFE3017-5F17-4EE6-B1B0-FDDBEAF6A128Q34612963-35317FC6-70F1-4E9B-B17E-BA5734F04D09Q35216395-01317CDE-D442-4EB7-9F8C-00A799069A0EQ35321185-7C8035E5-123C-412C-8B8A-CA2BCE286E59Q35897948-FD703513-7D4D-4F34-814E-BB24D4504A95Q37575517-C4E906F6-62AA-47B2-9676-ED2C5D70C614Q38653445-0636DDCB-AB53-4965-9AE4-680251425045Q38845134-B6DECEEB-9492-45E8-8BB1-0C0454FC97F7Q39561672-44AF45F7-9406-46A2-8EF6-07FA9A5E33F8Q46322390-F5B806A9-AAE9-4151-A42A-7CDDDCF8C2A0Q49538316-67655331-1780-45D7-8439-FA6FCC443E32Q49957568-68400F39-A05F-49F8-BAB6-90EF454A8E9CQ55004054-B6371924-2F25-4BC7-9FC6-D60697C40FC1Q57455558-F0AE9ABA-BF68-4579-9FFA-D7F8147C4238Q57923219-35C17F73-145C-48AF-BED1-178FC677CEDC
P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Role of protein misfolding in DFNA9 hearing loss.
@ast
Role of protein misfolding in DFNA9 hearing loss.
@en
type
label
Role of protein misfolding in DFNA9 hearing loss.
@ast
Role of protein misfolding in DFNA9 hearing loss.
@en
prefLabel
Role of protein misfolding in DFNA9 hearing loss.
@ast
Role of protein misfolding in DFNA9 hearing loss.
@en
P2093
P2860
P356
P1476
Role of protein misfolding in DFNA9 hearing loss
@en
P2093
Jianhua Yao
Jianxin Bao
Junying Yuan
P2860
P304
14909-14919
P356
10.1074/JBC.M110.106724
P407
P50
P577
2010-03-12T00:00:00Z