A novel mutation in human EMD gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.17532
Abstract: Emerin is an inner nuclear envelope protein encoded by the EMD gene, mutations in which cause Emery–Dreifuss muscular dystrophy type 1 (EDMD1). Cardiac involvement has become a major threat to patients with EDMD1; however, the… read more here.
Keywords: novel mutation; mutation human; gene; human emd ... See more keywords
Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1.
Sign Up to like & getrecommendations! Published in 2023 at "Circulation research"
DOI: 10.1161/circresaha.122.322223
Abstract: BACKGROUND Left ventricular noncompaction (LVNC) is a prevalent cardiomyopathy associated with excessive trabeculation and thin compact myocardium. Patients with LVNC are vulnerable to cardiac dysfunction and at high risk of sudden death. Although sporadic and… read more here.
Keywords: ventricular noncompaction; mutation human; missense mutation; chd4 ... See more keywords