Detalhe da pesquisa
1.
Combined AAV-mediated gene replacement therapy improves auditory function in a mouse model of human DFNB42 deafness.
Mol Ther
; 31(9): 2783-2795, 2023 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37481704
2.
Transcription co-factor LBH is necessary for the survival of cochlear hair cells.
J Cell Sci
; 134(7)2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674448
3.
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Proc Natl Acad Sci U S A
; 113(21): 5993-8, 2016 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27162350
4.
A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.
Hum Genet
; 137(6-7): 437-446, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29860631
5.
Signaling in the Auditory System: Implications in Hair Cell Regeneration and Hearing Function.
J Cell Physiol
; 232(10): 2710-2721, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27869308
6.
Indispensable Role of Ion Channels and Transporters in the Auditory System.
J Cell Physiol
; 232(4): 743-758, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27704564
7.
Neurotransmitters: The Critical Modulators Regulating Gut-Brain Axis.
J Cell Physiol
; 232(9): 2359-2372, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27512962
8.
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
Hum Mol Genet
; 24(9): 2482-91, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25601850
9.
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Proc Natl Acad Sci U S A
; 111(27): 9864-8, 2014 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24958875
10.
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.
Hum Mutat
; 37(5): 481-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841241
11.
Tectorins crosslink type II collagen fibrils and connect the tectorial membrane to the spiral limbus.
J Struct Biol
; 194(2): 139-46, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26806019
12.
Molecular Structure and Regulation of P2X Receptors With a Special Emphasis on the Role of P2X2 in the Auditory System.
J Cell Physiol
; 231(8): 1656-70, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26627116
13.
Intricate Functions of Matrix Metalloproteinases in Physiological and Pathological Conditions.
J Cell Physiol
; 231(12): 2599-621, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27187048
14.
CRISPR: a versatile tool for both forward and reverse genetics research.
Hum Genet
; 135(9): 971-6, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27384229
15.
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Hum Genet
; 135(5): 513-524, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27023905
16.
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Hum Genet
; 135(8): 953-61, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27344577
17.
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
Mol Vis
; 22: 827-35, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27440999
18.
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.
Proc Natl Acad Sci U S A
; 110(6): 2228-33, 2013 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23345450
19.
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Mol Genet Genomics
; 290(4): 1327-34, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25633957
20.
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
J Hum Genet
; 60(3): 119-126, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25589040