Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

By B. Gerull, A. Heuser, T. Wichter, M. Paul, C. Basson, D. McDermott, B. Lerman, S. Markowitz, P. Ellinor, Calum A. MacRae and 9 more. Nature Genetics, 2004

852 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Orthopedics and Sports Medicine

View Paper: https://www.semanticscholar.org/paper/731ceffd65a75a8d286b80815543c619e43083a5

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. N. Verweij
2. P. van der Harst
3. Paulus Kirchhof
4. Blair H. Smith
5. J. Towbin

Citations in the corpus

• Intermediate filaments: from cell architecture to nanomechanics (2007, background): “Corresponding to their central function in tissue homeostasis, mutations both in desmosomal and in IF proteins have been discovered that lead to severe malfunctions in several tissues, especially in the hear”
• 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. (2019, background): “by variants in one of several desmosomal genes (see Genetics, below).(23-26)”
• Multi-Ethnic Genome-wide Association Study for Atrial Fibrillation (2018, background): “structural integrity, and are a common cause of arrhythmogenic right ventricular cardiomyopathy.(30,31) Mutations in GJA5, KCNH2, SCN5A, KCNJ2, MYH7, NKX2-5, have been mapped in a variety of inherited arrhythmia, cardiomyopathy, or conduction system diseases.”