Detalhe da pesquisa
1.
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.
Mol Ther
; 32(3): 800-817, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243601
2.
Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model.
Proc Natl Acad Sci U S A
; 116(10): 4496-4501, 2019 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30782832
3.
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G.
Proc Natl Acad Sci U S A
; 114(36): 9695-9700, 2017 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28835534
4.
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Nat Genet
; 33(4): 463-5, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12627230
5.
Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids.
Hum Mol Genet
; 19(18): 3557-65, 2010 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20639393
6.
The SNARE protein SNAP-25 is required for normal exocytosis at auditory hair cell ribbon synapses.
iScience
; 25(12): 105628, 2022 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36483015
7.
Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses.
Hum Mol Genet
; 18(23): 4615-28, 2009 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19744958
8.
Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells.
Sci Rep
; 10(1): 16430, 2020 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33009420
9.
Structural Characterization of Whirlin Reveals an Unexpected and Dynamic Supramodule Conformation of Its PDZ Tandem.
Structure
; 25(11): 1645-1656.e5, 2017 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28966015
10.
Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.
FEBS Lett
; 591(15): 2299-2310, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653419
11.
Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses.
Elife
; 62017 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29111973
12.
DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.
Eur J Hum Genet
; 11(10): 816-8, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14512974
13.
Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.
EMBO Mol Med
; 1(2): 125-38, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20049712
14.
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.
Hum Genet
; 110(4): 348-50, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11941484
15.
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.
Proc Natl Acad Sci U S A
; 99(9): 6240-5, 2002 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-11972037