Mutations in COMP cause familial carpal tunnel syndrome

Mutations in COMP cause familial carpal tunnel syndrome

Familial carpal tunnel syndrome (CTS) is common, but causal genes are not characterized. Here the authors report two CTS-related mutations in two large families that impair secretion of COMP in tenocytes, leading to ER stress-induced unfolded protein response, inflammation and fibrosis in patients a...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Chunyu Li, Ni Wang, Alejandro A. Schäffer, Xilin Liu, Zhuo Zhao, Gene Elliott, Lisa Garrett, Nga Ting Choi, Yueshu Wang, Yufa Wang, Cheng Wang, Jin Wang, Danny Chan, Peiqiang Su, Shusen Cui, Yingzi Yang, Bo Gao
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
Materias:
Science
Q
Acceso en línea:https://doaj.org/article/d600f856df9544ff86a92b357a90ea5d
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
Descripción
Sumario:Familial carpal tunnel syndrome (CTS) is common, but causal genes are not characterized. Here the authors report two CTS-related mutations in two large families that impair secretion of COMP in tenocytes, leading to ER stress-induced unfolded protein response, inflammation and fibrosis in patients and mouse models.

Ejemplares similares