Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban

By J. Schmitt, M. Kamisago, M. Asahi, G. H. Li, Ferhaan Ahmad, U. Mende, E. Kranias, D. Maclennan, J. Seidman, C. Seidman. Science, 2003

632 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/688197d478847b12fbfc10d993e022857c78e668

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cardiology and Cardiovascular Medicine

1. J. Towbin

In Molecular Biology

1. D. Warburton
2. S. Buckley
3. Jian Sun
4. Hui Chen
5. D. Maclennan
6. E. Kranias
7. Jingsong Zhao
8. W. Shi

Citations in the corpus

• Calcium: Phospholamban: a crucial regulator of cardiac contractility (2003, background): “Finally, we discuss very recent data, which show not only that mutations in PLN can cause dilated cardiomyopathy in humans, but also introduce new principle”
• A Micropeptide Encoded by a Putative Long Non-coding RNA Regulates Muscle Performance (2015, neutral): “PLN and SLN are expressed in partially overlapping patterns in cardiac and slow skeletal muscle and are important regulators of muscle performance and cardiovascular disease (Briggs et al., 1992; Kranias and Hajjar, 2012; Minamisawa et al., 2003; Schmitt et al., 2003; Tada and Toyofuku, 1998; Tuplin”
• Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy (2007, background): “Subjects The study population consisted of 195 patients with HCM (148 index cases and 47 affected family members), including ten transition forms from HCM to DCM, 32 patients with DCM (29 index cases and three affected family members), and eight patients with restrictive cardiomyopathy (RCM) (seven ”
• TACE is required for fetal murine cardiac development and modeling. (2003, background): “In contrast, null mutations in several other genes, such as heparin-binding epidermal growth factor (HB-EGF), ErbB2, HOP, PTEN, and phospholamban, result in myocardial hyperplasia, and/or hypertrophy as well as reduced contractile function (Iwamoto et al., 2003; Ozcelik et al., 2002; Crone et al., 2”
• 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. (2019, background): “PLN Ca Missense, nonsense, and deletion NA NA Predominantly R14del (33,129)”