(Q28255024)

English

Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

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scholarly article

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Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro (English)

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arrhythmogenic right ventricular cardiomyopathy

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14

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Alessandra Lorenzon

5

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9

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Alessandra Rampazzo

16

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Marzia De Bortoli

2

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Giorgia Beffagna

1

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11

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object named as

Luisa Mancuso

7

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Manuela Zaccolo

object named as

Manuela Zaccolo

6

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Jeffrey A Towbin

13

object named as

Jeffrey A Towbin

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author name string

Andrea Nava

3

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Michela Salamon

4

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Luca Sigalotti

8

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Gianluca Occhi

10

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Gerolamo Lanfranchi

12

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Gian Antonio Danieli

15

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language of work or name

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publication date

26 October 2007

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BMC Medical Genetics

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8

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65

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1

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https://scigraph.springernature.com/pub.10.1186/1471-2350-8-65

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Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

In vivo function of desmosomes

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

https://api.crossref.org/works/10.1186%2F1471-2350-8-65

21 January 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

Molecular interactions between desmosomal cadherins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

The cadherin superfamily: diversity in form and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

The widespread human desmocollin Dsc2 and tissue-specific patterns of synthesis of various desmocollin subtypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

Contributions of cytoplasmic domains of desmosomal cadherins to desmosome assembly and intermediate filament anchorage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

Cadherins: a molecular family important in selective cell-cell adhesion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

20 March 2017

HL-1 cells: a cardiac muscle cell line that contracts and retains phenotypic characteristics of the adult cardiomyocyte

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

29 September 2017

Desmosomal adhesion: structural basis, molecular mechanism and regulation (Review).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

29 September 2017

Desmosomes: interconnected calcium-dependent structures of remarkable stability with significant integral membrane protein turnover.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

29 September 2017

Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

29 September 2017

Right ventricular cardiomyopathy and sudden death in young people

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

29 September 2017

Correct proteolytic cleavage is required for the cell adhesive function of uvomorulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2190757

2 June 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-65

21 January 2018

Discrete microdomains with high concentration of cAMP in stimulated rat neonatal cardiac myocytes

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-65

21 January 2018

The minimal essential unit for cadherin-mediated intercellular adhesion comprises extracellular domains 1 and 2.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-65

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17963498

12 December 2020

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10.1186/1471-2350-8-65

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