Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

By B. Gerull, M. Gramlich, J. Atherton, M. Mcnabb, K. Trombitás, S. Sasse-Klaassen, J. Seidman, C. Seidman, H. Granzier, S. Labeit and 2 more. Nature Genetics, 2002

615 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/a1ac37ac805a5b6fa9244898d8e62a9076baf09e

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In Cardiology and Cardiovascular Medicine

In Molecular Biology

Citations in the corpus

Striated muscle cytoarchitecture: an intricate web of form and function. (2002, background): “In zebrafish, a novel genetic model system for the titin field, a mutation in the N2B region also causes a functional disorder resembling human DCM (Xu et al. 2002).”
In vivo drug discovery in the zebrafish (2005, background): “fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7273"> TTN (titin) mutations cause cardiomyopath”
Zebrafish as a model to study cardiac development and human cardiac disease (2011, background): “Notably, in a large human pedigree a 2 bp insertion in the TTN gene was identified, causing a frameshift and subsequent truncation of titin, which was strongly associated with autosomal dominant DCM in the studied family.(73)”
Dilated Cardiomyopathy: Genetic Determinants and Mechanisms (2017, positive): “Before this, only a few missense TTN variants had been described linked to DCM.(70) Induced pluripotent stem cells (iPSC) differentiated into cardiomyocytes in culture demonstrate a paucity of sarcomeres, suggesting that force may be impaired directly through sarcomere loss in TTN truncations.”
Zebrafish as a model vertebrate for investigating chemical toxicity. (2005, background): “, 1996); pikwik has a heart contraction defect with the mutated gene titin that is found in human cardiomyopathy (Gerull et al., 2002; Stainier et al., 1996; Xu et al., 2002); silent heart has no heartbeat, with a mutation in the gene tnnt2, also involved in cardiomyopathy (Chen et al.”
The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. (2002, neutral): “The over-stretching of individual myocytes (Gerull et al., 2002).”
Animal models of human disease: zebrafish swim into view (2007, background): “(which has a dysfunctional, poorly contractile heart) was important in making the connection between titin mutations and the diseas”