Yi-Wen Chen

TL;DR: It is hypothesize that the abnormal Ca2+ influx in dystrophin- and α-sarcoglycan–deficient myofibers leads to altered developmental programming of developing and regenerating my ofibers, and that primary genetic defects can be identified by a reduction in the corresponding RNA.

TL;DR: The results suggest that up-regulation of both DUX4 and PITX1 in FSHD muscles may play critical roles in the molecular mechanisms of the disease.

TL;DR: Investigating the pathways of endoplasmic reticulum stress response, the unfolded protein response, and the ER overload response in muscle tissue of human myositis patients and in the mouse model indicates that the ER stress response may be a major nonimmune mechanism responsible for skeletal muscle damage and dysfunction in autoimmune myositIS.

TL;DR: A transcriptional model for downstream consequences of LMNA and emerin mutations is developed and it is proposed that key interactions between the nuclear envelope and Rb and MyoD fail in EDMD at the point of myoblast exit from the cell cycle, leading to poorly coordinated phosphorylation and acetylation steps.

TL;DR: The data show stage-specific remodeling of human dystrophin-deficient muscle, with inflammatory pathways predominating in the presymptomatic stages and acute activation of TGFβ and failure of metabolic pathways later in the disease.