Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy (Q24306039)

regulation of ventricular cardiac muscle cell action potential

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Gaetano Thiene

11

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Barbara Bauce

5

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Alessandra Rampazzo

13

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Alessandra Lorenzon

6

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Giorgia Beffagna

4

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Cristina Basso

3

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Andrea Vettori

Andrea Vettori

8

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Marialuisa Valente

Marialuisa Valente

9

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Jeffrey A Towbin

10

Jeffrey Towbin

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Kalliopi Pilichou

1

Kalliopi Pilichou

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author name string

Andrea Nava

2

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Alessandra Lorenzon

6

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Gianfranco Frigo

7

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Gian Antonio Danieli

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

12

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language of work or name

English

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publication date

7 March 2006

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published in

Circulation

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volume

113

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issue

9

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page(s)

1171-9

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cites work

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Familial occurrence of right ventricular dysplasia: a study involving nine families

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

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Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy

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Cardiomyopathies: is it time for a molecular classification?

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Does sports activity enhance the risk of sudden death in adolescents and young adults?

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Endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy

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

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Antisense expression of a desmocollin gene in MDCK cells alters desmosome plaque assembly but does not affect desmoglein expression

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Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy.

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Chromosome elasticity and mitotic polar ejection force measured in living Drosophila embryos by four-dimensional microscopy-based motion analysis

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Structural and molecular pathology of the heart in Carvajal syndrome

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

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Right ventricular cardiomyopathy and sudden death in young people

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Loss of desmoglein 2 suggests essential functions for early embryonic development and proliferation of embryonal stem cells

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Extracellularly truncated desmoglein 1 compromises desmosomes in MDCK cells

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Mice expressing a mutant desmosomal cadherin exhibit abnormalities in desmosomes, proliferation, and epidermal differentiation

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Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris

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The membrane-proximal region of the E-cadherin cytoplasmic domain prevents dimerization and negatively regulates adhesion activity

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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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A new crystal structure, Ca2+ dependence and mutational analysis reveal molecular details of E-cadherin homoassociation

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Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations

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

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Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

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Downregulation of peroxisome proliferator-activated receptor-alpha gene expression in a mouse model of ischemic cardiomyopathy is dependent on reactive oxygen species and prevents lipotoxicity

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

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10.1161/CIRCULATIONAHA.105.583674

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

16505173

1 reference

Consolidated OpenCitations Corpus – April 2017