Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
By M. Kamisago, S. Sharma, S. DePalma, S. Solomon, P. Sharma, B. McDonough, L. Smoot, M. Mullen, P. Woolf, E. Wigle and 2 more. New England Journal of Medicine, 2001
595 citations recorded by the source corpus.
Subfields: Cardiology and Cardiovascular Medicine, Electrical and Electronic Engineering, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/ed4dee1e8255bd964a6edb4a77e76a06ef46cc87
How researchers see this paper
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In Cardiology and Cardiovascular Medicine
In Molecular Biology
- Gregory J. Hannon
- Scott M. Hammond
- E. Braunwald
- M. Schneider
- Phillip D. Zamore
- V. Narry Kim
- David P. Bartel
- T. Rana
Citations in the corpus
- Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. (2017, background): “The pleiotropic effects primarily apply to the effects of different mutations in a given genes, such as TNNT2 or MYH7, causing the differing phenotypes of HCM and dilated cardiomyopathy.(22,149) It may reflect location of the mutations in different domains of the protein, resulting in differential i”
- Targeted deletion of Dicer in the heart leads to dilated cardiomyopathy and heart failure (2008, background): “Most previously reported DCM cases, particular those associated with sarcomeric protein mutations, have shown a progressive phenotype (2, 4).”
- Dilated Cardiomyopathy (2007, unknown): “DCM caused by mutations in the sarcomere genes MYH7, TNNT2, and TPM1 may present at any age; however, adverse outcomes seem to be more common with pediatric presentations.(4,14) TTN associated DCM typically does not present until adulthood, although adverse outcomes occur earlier in men.”