Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction

Auris Nasus Larynx

Volumn 41, Issue 5, 2014, Pages 399-408

  Nakanishi, Hiroshi ^a   Kurima, Kiyoto ^a   Kawashima, Yoshiyuki ^b   Griffith, Andrew J ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

DFNA36; DFNB7 B11; Hearing loss; Mechanoelectrical transduction; TMC1; TMC2

Indexed keywords

MEMBRANE PROTEIN; TRANSMEMBRANE CHANNEL LIKE 1 PROTEIN; TRANSMEMBRANE CHANNEL LIKE 2 PROTEIN; UNCLASSIFIED DRUG; TMC1 PROTEIN, HUMAN; TMC1 PROTEIN, MOUSE;

ALLELE; AMINO ACID SUBSTITUTION; CONGENITAL DEAFNESS; DISEASE SEVERITY; DNA SEQUENCE; DOMINANT INHERITANCE; EXON; GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; HAIR CELL; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; KNOCKOUT MOUSE; LINKAGE ANALYSIS; MECHANOELECTRICAL TRANSDUCTION; MECHANOTRANSDUCTION; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; PROTEIN EXPRESSION; RECESSIVE INHERITANCE; REVIEW; TMC1 GENE; TMC2 GENE; ANIMAL; COCHLEAR HAIR CELL; DISEASE MODEL; GENETICS; METABOLISM; MOUSE; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY;

ANIMALS; DEAFNESS; DISEASE MODELS, ANIMAL; HAIR CELLS, AUDITORY; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE PROTEINS; MICE; MUTATION;

EID: 84907717293     PISSN: 03858146     EISSN: 18791476     Source Type: Journal    
DOI: 10.1016/j.anl.2014.04.001     Document Type: Review

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