Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy (Q28268639)

13

object named as

Hugh Calkins

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Cynthia A James

8

object named as

Cynthia James

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author name string

A Dénise den Haan

1

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Boon Yew Tan

2

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Michelle N Zikusoka

3

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Laura Ibañez Lladó

4

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Rahul Jain

5

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Amy Daly

6

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Crystal Tichnell

7

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Nuria Amat-Alarcon

9

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Theodore Abraham

10

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Stuart D Russell

11

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Darshan Dalal

14

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Daniel P Judge

Circulation: Cardiovascular Genetics

15

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language of work or name

English

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publication date

October 2009

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published in

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volume

2

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issue

5

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page(s)

428-35

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cites work

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Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

20 March 2017

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20 March 2017

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A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy

20 March 2017

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Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression

20 March 2017

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Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2

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Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

20 March 2017

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Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2

20 March 2017

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Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy

20 March 2017

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Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

20 March 2017

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

20 March 2017

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

20 March 2017

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Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

20 March 2017

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

20 March 2017

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Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

20 March 2017

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Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins

20 March 2017

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Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.

20 March 2017

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Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.

29 September 2017

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

29 September 2017

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses?

29 September 2017

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Arrhythmogenic right ventricular dysplasia: a United States experience

29 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).

29 September 2017

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29 September 2017

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Right ventricular dysplasia: a report of 24 adult cases

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29 September 2017

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Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

29 September 2017

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Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

27 November 2018

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Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1

27 November 2018

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27 November 2018

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies

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The mystery of arrhythmogenic right ventricular dysplasia/cardiomyopathy: from observation to mechanistic explanation

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12 December 2020

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease

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12 December 2020

Pathology of arrhythmogenic right ventricular cardiomyopathy/dysplasia--an autopsy study of 20 forensic cases

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12 December 2020

Screening for hypertrophic cardiomyopathy in young athletes

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12 December 2020

10.1161/CIRCGENETICS.109.858217

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

20031617

1 reference