Detalhe da pesquisa
1.
Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.
Cell;
163(4): 894-906, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26544938
2.
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
Am J Hum Genet;
98(6): 1266-1270, 2016 06 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27259055
3.
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
Nat Genet;
38(7): 770-8, 2006 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16804542
4.
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
Hum Mol Genet;
21(17): 3835-44, 2012 Sep 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22678063
5.
The mitochondrial protease AFG3L2 is essential for axonal development.
J Neurosci;
28(11): 2827-36, 2008 Mar 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18337413
6.
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.
J Cell Biol;
216(6): 1849-1864, 2017 06 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28495838
7.
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
EMBO Mol Med;
9(12): 1711-1731, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29084757
8.
crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1).
Int J Mol Med;
18(4): 593-600, 2006 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16964410
9.
Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.
J Cell Biol;
212(2): 231-44, 2016 Jan 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26754646
10.
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
11.
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
J Cell Biol;
199(2): 381-99, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23045546
12.
New insights into the alternative D-glucarate degradation pathway.
J Biol Chem;
283(23): 15638-46, 2008 Jun 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18364348
13.
The paralysé (par) mouse neurological mutation maps to a 9 Mbp (4 cM) interval of mouse chromosome 18
Genet. mol. biol;
28(2): 201-204, 2005. ilus
Artigo
em Inglês
| LILACS
| ID: lil-416284