Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy (Q24300083)

Gap junction protein, alpha 1

1 reference

Desmin

1 reference

Desmoplakin

1 reference

Plakophilin 2

1 reference

Junction plakoglobin

1 reference

16

Hugh Calkins

Hugh

Calkins

1 reference

30 October 2023

18

Jeffrey A Towbin

Jeffrey A

Towbin

1 reference

30 October 2023

Zhao Yang

1

Zhao

Yang

1 reference

30 October 2023

Neil E Bowles

2

Neil E

Bowles

1 reference

30 October 2023

Steven E Scherer

3

Steven E

Scherer

1 reference

30 October 2023

Michael D Taylor

4

Michael D

Taylor

1 reference

30 October 2023

Debra L Kearney

5

Debra L

Kearney

1 reference

30 October 2023

Shuping Ge

6

Shuping

Ge

1 reference

30 October 2023

Vyacheslav V Nadvoretskiy

7

Vyacheslav V

Nadvoretskiy

1 reference

30 October 2023

Gilberto DeFreitas

8

Gilberto

DeFreitas

1 reference

30 October 2023

Blasé Carabello

9

Blasé

Carabello

1 reference

30 October 2023

Lois I Brandon

10

Lois I

Brandon

1 reference

30 October 2023

Lisa M Godsel

11

Lisa M

Godsel

1 reference

30 October 2023

Kathleen J Green

12

Kathleen J

Green

1 reference

30 October 2023

Jeffrey E Saffitz

13

Jeffrey E

Saffitz

1 reference

30 October 2023

Hua Li

14

Hua

Li

1 reference

30 October 2023

Gian Antonio Danieli

15

Gian Antonio

Danieli

1 reference

30 October 2023

Frank Marcus

17

Frank

Embryonic heart and skin defects in mice lacking plakoglobin

Marcus

1 reference

30 October 2023

language of work or name

English

0 references

publication date

15 September 2006

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published in

Circulation Research

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volume

99

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page(s)

646-55

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issue

6

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cites work

1 reference

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7 January 2021

The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Etiopathogenesis of arrhythmogenic right ventricular cardiomyopathy

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: review for the clinician

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Molecular remodelling of dystrophin in patients with end-stage cardiomyopathies and reversal in patients on assistance-device therapy.

1 reference

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7 January 2021

Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study.

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Structural and molecular pathology of the heart in Carvajal syndrome

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Desmoplakin is essential in epidermal sheet formation

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Arrhythmogenic inherited heart muscle diseases in children

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Right ventricular cardiomyopathy and sudden death in young people

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Evidence of Apoptosis in Arrhythmogenic Right Ventricular Dysplasia

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Defining the interactions between intermediate filaments and desmosomes

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Morphological patterns of death by myocytes in arrhythmogenic right ventricular dysplasia.

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Desmosomes: structure and function in normal and diseased epidermis

1 reference

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7 January 2021

Cardiac arrest and sudden death in competitive athletes with arrhythmogenic right ventricular dysplasia

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Left sided arrhythmogenic ventricular dysplasia in siblings

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype--phenotype assessment

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Transforming growth factor-beta stimulates the expression of desmosomal proteins in bronchial epithelial cells

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021

Left side right ventricular cardiomyopathy

1 reference

https://api.crossref.org/works/10.1161%2F01.RES.0000241482.19382.C6

7 January 2021