Publications by authors named "Pui Shi Chan"

Article Synopsis
  • Dilated cardiomyopathy (DCM) is a serious heart disease leading to heart failure, with familial DCM being its major form, often linked to mutations in the LMNA gene.
  • In this study, researchers tested 14 potential therapeutic candidates in a cardiac model of LMNA DCM to evaluate their effects on heart function, inflammation, fibrosis, and DNA damage.
  • Results showed that several candidates improved cardiac function and survival, with specific candidates like Lamin C and Sun1 demonstrating long-term benefits, while Lamin A treatment raised concerns as it could worsen heart conditions in healthy individuals.
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Truncating variants in TTN (TTNtv), coding for the largest structural protein in the sarcomere, contribute to the largest portion of familial and ambulatory dilated cardiomyopathy (DCM). TTN haploinsufficiency caused by TTNtv is suggested as the disease mechanism. However, it is unclear whether TTN insufficiency causes DCM.

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Rationale: Pathogenic variations in the lamin gene () cause familial dilated cardiomyopathy (DCM). insufficiency caused by pathogenic variants is believed to be the basic mechanism underpinning -related DCM.

Objective: To assess whether silencing of cardiac causes DCM and investigate the role of Yin Yang 1 () in suppressing DCM.

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