A novel MMP13 frameshift variant causes short stature via enhanced MMP13–HSPA5 interaction and activated endoplasmic reticulum stress

Abstract Background Short stature (SS) is a common growth disorder with multiple aetiologies. Variants in the MMP13 gene can result in varying degrees of SS, typically accompanied by pronounced skeletal abnormalities. This study aimed to investigate the genetic basis of SS in a family lacking signif...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Huifei Lu, Xin Feng, Suping Dai, Yilin Zhu, Ke Yuan, Yonghua Chen, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2026-03-01
Цуврал:	Clinical and Translational Medicine
Нөхцлүүд:	endoplasmic reticulum stress extracellular matrix growth plate HSPA5 MMP13 short stature
Онлайн хандалт:	https://doi.org/10.1002/ctm2.70648
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!