Article
Biomechanical and compositional basement membrane defects due to a Col4a1 mutation affect cardiac morphology and function.
Matrix biology : journal of the International Society for Matrix Biology - 1 Nov 2025
Boland Erin, Hoyle Anna, Robertson-Gray Olivia, Fuller William, Swift Joe, Cantini Marco, Walker Matthew, Huethorst Eline, MacDonald Eilidh, Loughrey Christoper, Salmeron-Sanchez Manuel, Smith Godfrey L, Quondamatteo Fabio, Van Agtmael Tom
Abstract excerpt
Collagen IV is a major constituent of basement membranes and mutations in the genes COL4A1 and COL4A2 present clinically as a variable, multi-system disorder called COL4A1 (Gould) syndrome. Evidence from case reports supports a cardiac component to this disease, but the phenotypic and functional implications affecting the heart, their progression and underlying mechanisms all remain poorly characterised. Indeed,...
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