Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

By Antoniades L Tsatsopoulou, A. Anastasakis, A. Syrris, P. Asimaki, A. Panagiotakos, D. Zambartas, N. Protonotarios, L. Antoniades, G. Chlouverakis, P. Syrris and 8 more. The Lancet, 2000

1,106 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Genetics, Orthopedics and Sports Medicine

View Paper: https://www.semanticscholar.org/paper/b0485dc0dbed29e7c8329275984fb064ee670b5e

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
2. A. Marian
3. J. Willerson
4. B. Maron
5. Douglas P. Zipes
6. M. Maron

Citations in the corpus

• Exercise Increases Age-Related Penetrance and Arrhythmic Risk in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated Desmosomal Mutation Carriers (2013, background): “Stage C heart failure at LFU (yes) 10 (12) 10 (18) 0 (0) 0.”
• Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. (2006, background): “Discussion Based on structural and functional similarities between PG, responsible for human ARVC (18), and b-catenin, the signal transducer of the canonical Wnt signaling pathway through Tcf/Lef1 transcription factors (13), we developed a hypothesis and tested it through a series of in vitro and in”
• 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. (2019, background): “identification of the first disease-causing gene(22) and the recognition that most ARVC is caused”
• Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. (2002, background): “…recessive form of ARVD/C is associated with palmoplantar keratoderma and peculiar woolly hairs (Naxos syndrome [MIM 601214]), caused by a homozygous 2-nucleotide deletion in the plakoglobin (JUP) gene, the product of which is a key component of desmosomes and adherens junctions (McKoy et al. 2000).”
• Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). (2001, background): “A mutation in plakoglobin (19) was detected in Naxos disease (OMIM 601214), an autosomal recessive syndrome”
• Task Force on Sudden Cardiac Death of the European Society of Cardiology. (2001, background): “A recessive form with associated skin and hair abnormalities (Naxos disease) is recognized in which a 2 base pair deletion in plakoglobin causes disease([304]).”