New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.
Hair cell
TMC1
cochlea
deafness
mechanotransduction channel
Journal
The Journal of neuroscience : the official journal of the Society for Neuroscience
ISSN: 1529-2401
Titre abrégé: J Neurosci
Pays: United States
ID NLM: 8102140
Informations de publication
Date de publication:
19 05 2021
19 05 2021
Historique:
received:
29
09
2020
revised:
19
03
2021
accepted:
27
03
2021
pubmed:
8
4
2021
medline:
19
11
2021
entrez:
7
4
2021
Statut:
ppublish
Résumé
Transmembrane channel-like protein isoform 1 (TMC1) is a major component of the mechano-electrical transducer (MET) channel in cochlear hair cells and is subject to numerous mutations causing deafness. We report a new dominant human deafness mutation,
Identifiants
pubmed: 33824189
pii: JNEUROSCI.2537-20.2021
doi: 10.1523/JNEUROSCI.2537-20.2021
pmc: PMC8152607
doi:
Substances chimiques
Membrane Proteins
0
TMC1 protein, human
0
TMC1 protein, mouse
0
Banques de données
PDB
['4WIS']
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
4378-4391Subventions
Organisme : NIDCD NIH HHS
ID : R01 DC001362
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01 DC015439
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000135
Pays : United States
Organisme : Intramural NIH HHS
ID : Z01 NS002945
Pays : United States
Informations de copyright
Copyright © 2021 Beurg et al.
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