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...

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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
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spelling	oai:doaj.org-article:d600f856df9544ff86a92b357a90ea5d2021-12-02T16:26:40ZMutations in COMP cause familial carpal tunnel syndrome10.1038/s41467-020-17378-z2041-1723https://doaj.org/article/d600f856df9544ff86a92b357a90ea5d2020-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-17378-zhttps://doaj.org/toc/2041-1723Familial 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.Chunyu LiNi WangAlejandro A. SchäfferXilin LiuZhuo ZhaoGene ElliottLisa GarrettNga Ting ChoiYueshu WangYufa WangCheng WangJin WangDanny ChanPeiqiang SuShusen CuiYingzi YangBo GaoNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Mutations in COMP cause familial carpal tunnel syndrome
description	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.
format	article
author	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
author_facet	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
author_sort	Chunyu Li
title	Mutations in COMP cause familial carpal tunnel syndrome
title_short	Mutations in COMP cause familial carpal tunnel syndrome
title_full	Mutations in COMP cause familial carpal tunnel syndrome
title_fullStr	Mutations in COMP cause familial carpal tunnel syndrome
title_full_unstemmed	Mutations in COMP cause familial carpal tunnel syndrome
title_sort	mutations in comp cause familial carpal tunnel syndrome
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/d600f856df9544ff86a92b357a90ea5d
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Mutations in COMP cause familial carpal tunnel syndrome

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