Detalhe da pesquisa
1.
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.
Hum Genet
; 141(3-4): 759-783, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35320418
2.
Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model.
Proc Natl Acad Sci U S A
; 116(22): 11000-11009, 2019 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31097578
3.
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Hum Genet
; 140(6): 915-931, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33496845
4.
A small molecule mitigates hearing loss in a mouse model of Usher syndrome III.
Nat Chem Biol
; 12(6): 444-51, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27110679
5.
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.
J Neurosci
; 35(28): 10188-201, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26180195
6.
ACF7 is a hair-bundle antecedent, positioned to integrate cuticular plate actin and somatic tubulin.
J Neurosci
; 34(1): 305-12, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381291
7.
Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells.
J Neurosci
; 33(10): 4395-404, 2013 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23467356
8.
Noise exposure immediately activates cochlear mitogen-activated protein kinase signaling.
Noise Health
; 16(73): 400-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25387536
9.
The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.
J Neurosci
; 32(28): 9485-98, 2012 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22787034
10.
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation.
Hum Mol Genet
; 18(15): 2748-60, 2009 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19414487
11.
Actin Crosslinking Family Protein 7 Deficiency Does Not Impair Hearing in Young Mice.
Front Cell Dev Biol
; 9: 709442, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34917607
12.
Mitochondrial calcium uniporter is essential for hearing and hair cell preservation in congenic FVB/NJ mice.
Sci Rep
; 11(1): 9660, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958614
13.
A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.
Hum Genet
; 127(1): 83-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19816713
14.
Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.
EMBO Mol Med
; 11(9): e10288, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448880
15.
A mouse model with postnatal endolymphatic hydrops and hearing loss.
Hear Res
; 237(1-2): 90-105, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18289812
16.
Tympanometry assessment of 61 inbred strains of mice.
Hear Res
; 231(1-2): 23-31, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17611057
17.
N-Acetyl L-cysteine does not protect against premature age-related hearing loss in C57BL/6J mice: a pilot study.
Hear Res
; 226(1-2): 203-8, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16930891
18.
Optimization of ribonucleic acid detection from archival Guinea pig temporal bone specimens.
Otol Neurotol
; 28(1): 116-23, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16983313
19.
Molecular changes associated with the endolymphatic hydrops model.
Otol Neurotol
; 28(6): 834-41, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17468674
20.
Spatiotemporal changes in the distribution of LHFPL5 in mice cochlear hair bundles during development and in the absence of PCDH15.
PLoS One
; 12(10): e0185285, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29069081