LMNA Q353R Mutation Causes Dilated Cardiomyopathy Through Impaired Vitamin D Signaling

Circulation. 2024 Sep 17;150(12):971-974. doi: 10.1161/CIRCULATIONAHA.124.069972. Epub 2024 Sep 16.
No abstract available

Keywords: DNA damage; cardiomyocytes; dilated cardiomyopathy; drug screening; heart failure; human induced pluripotent stem cells; vitamin D.

Publication types

  • Letter
  • Case Reports

MeSH terms

  • Adult
  • Cardiomyopathy, Dilated* / genetics
  • Cardiomyopathy, Dilated* / metabolism
  • Female
  • Humans
  • Lamin Type A* / genetics
  • Lamin Type A* / metabolism
  • Male
  • Mutation
  • Signal Transduction* / genetics
  • Vitamin D* / metabolism

Substances

  • Lamin Type A
  • LMNA protein, human
  • Vitamin D