A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy (Q24296914)

regulation of ventricular cardiac muscle cell action potential

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Petros Syrris

2

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Angeliki Asimaki

1

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William McKenna

object named as

William J McKenna

6

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Thomas Wichter

3

object named as

Thomas Wichter

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author name string

Paul Matthias

4

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Jeffrey E Saffitz

American Journal of Human Genetics

5

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language of work or name

English

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publication date

November 2007

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published in

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volume

81

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issue

5

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page(s)

964-73

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cites work

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Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy

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Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

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Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

19 March 2017

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Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

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

19 March 2017

1 reference

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Plakoglobin and beta-catenin: protein interactions, regulation and biological roles

27 September 2017

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

27 September 2017

1 reference

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Plakoglobin suppresses epithelial proliferation and hair growth in vivo

27 September 2017

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27 September 2017

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Effects of diminished expression of connexin43 on gap junction number and size in ventricular myocardium

27 September 2017

1 reference

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Plakoglobin regulates the expression of the anti-apoptotic protein BCL-2

29 November 2018

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12 December 2020

Structural and molecular pathology of the heart in Carvajal syndrome

1 reference

12 December 2020

Localizing the adhesive and signaling functions of plakoglobin

1 reference

12 December 2020

Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)

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12 December 2020

Apoptotic myocardial cell death in the setting of arrhythmogenic right ventricular cardiomyopathy

1 reference

12 December 2020

Identifiers

DOI

10.1086/521633

1 reference

1 reference

1 reference

PubMed publication ID

17924338

1 reference