Article
Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.
Journal of molecular and cellular cardiology - 1 Sept 2009
Gramlich Michael, Michely Beate, Krohne Christian, Heuser Arnd, Erdmann Bettina, Klaassen Sabine, Hudson Bryan, Magarin Manuela, Kirchner Florian, Todiras Mihail, Granzier Henk, Labeit Siegfried, Thierfelder Ludwig, Gerull Brenda
Abstract excerpt
Mutations in a variety of myofibrillar genes cause dilated cardiomyopathy (DCM) in humans, usually with dominant inheritance and incomplete penetrance. Here, we sought to clarify the functional effects of the previously identified DCM-causing TTN 2-bp insertion mutation (c.43628insAT) and generated a titin knock-in mouse model mimicking the c.43628insAT allele. Mutant embryos homozygous for the Ttn knock-in...
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