Article
Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1.
Circulation research - 23 Jun 2023
Shi Wei, Scialdone Angel P, Emerson James I, Mei Liu, Wasson Lauren K, Davies Haley A, Seidman Christine E, Seidman Jonathan G, Cook Jeanette G, Conlon Frank L
Abstract excerpt
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 inherited mutations in cardiac genes are implicated in LVNC, understanding of the mechanisms responsible for human LVNC is limited. METHODS: We screened...
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