Advances in hereditary hearing loss caused by TMC1 mutations / 中华耳鼻咽喉头颈外科杂志
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
; (12): 224-229, 2016.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-265527
Biblioteca responsável:
WPRO
ABSTRACT
Hearing loss is the most frequent sensorineural disorder worldwild, among which about 50% are caused by genetic factors. TMC1 is one of the common genes causing hereditary hearing loss. TMC1 mutations can cause pre-lingual profound/severe autosomal recessive (DFNB7/11) and post-lingual progressive autosomal dominant (DFNA36) non-syndromic hearing loss. Murine models studies show that TMC1, 2 are expressed in cochlea inner and outer hair cells and maintain normal mechanoelectrical transduction (MET) functions of the hair cells. A growing number of evidence indicate that TMC1, 2 are components of the MET complex. It is necessary to definite the precise distribution and exact function of TMC1, 2, because it is important to understand the regulating mechanism of auditory function.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cóclea
/
Células Ciliadas Auditivas Externas
/
Modelos Animais de Doenças
/
Genética
/
Perda Auditiva Neurossensorial
/
Proteínas de Membrana
/
Metabolismo
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Animais
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
Ano de publicação:
2016
Tipo de documento:
Artigo