Salicylate restores transport function and anion exchanger activity of missense pendrin mutations.
about
Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and miceA rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean populationExtremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueductMolecular and functional characterization of human pendrin and its allelic variants.Early deterioration of residual hearing in patients with SLC26A4 mutations.Drug repositioning can accelerate discovery of pharmacological chaperones.Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.Patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss and endolymphatic hydrops.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860
Q28533618-102CA523-D41D-4CFF-B53B-A3107F63B498Q34613043-B1BEC3E1-BDC2-4B63-A5B4-B6D2415AD827Q35477577-A1C4F6D7-28E5-48B4-9DA0-BB139CDD3199Q37960781-BAEE830F-0569-4FC8-86C4-DD6B13E34EBEQ38664068-B025A87F-24C4-468A-9D7D-8DDD9AC72E3FQ42558415-AE30B25B-A8EF-4709-BCEE-D50BA88DD4FAQ47213975-6A9A0D94-083E-4A08-9CD5-817CC74766F9Q50353283-439B2671-FF23-4EDB-B05B-65CB3B58D0FCQ57455558-836D4B2D-3E9C-45EA-852A-B555BBB806CA
P2860
Salicylate restores transport function and anion exchanger activity of missense pendrin mutations.
description
2010 nî lūn-bûn
@nan
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
2010年论文
@zh
2010年论文
@zh-cn
name
Salicylate restores transport ...... of missense pendrin mutations.
@en
Salicylate restores transport ...... of missense pendrin mutations.
@nl
type
label
Salicylate restores transport ...... of missense pendrin mutations.
@en
Salicylate restores transport ...... of missense pendrin mutations.
@nl
prefLabel
Salicylate restores transport ...... of missense pendrin mutations.
@en
Salicylate restores transport ...... of missense pendrin mutations.
@nl
P2093
P1433
P1476
Salicylate restores transport ...... of missense pendrin mutations.
@en
P2093
Hiroshi Hamana
Hiroshi Wada
Katsuhisa Ikeda
Kenji Ishihara
Kohei Tsumoto
Michio Murakoshi
Noriyasu Hirasawa
Shinichi Usami
Shuhei Okuyama
P304
P356
10.1016/J.HEARES.2010.08.015
P577
2010-09-06T00:00:00Z