Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy (Q24310389)

regulation of ventricular cardiac muscle cell action potential

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Gaetano Thiene

Gaetano

Thiene

1 reference

19 October 2023

Barbara Bauce

Barbara

Bauce

1 reference

19 October 2023

Alessandra Rampazzo

Alessandra

Rampazzo

1 reference

19 October 2023

Giorgia Beffagna

Giorgia

Beffagna

1 reference

19 October 2023

Cristina Basso

Cristina

Basso

1 reference

19 October 2023

Jeffrey A Towbin

Jeffrey A

Towbin

1 reference

19 October 2023

Andrea Nava

Andrea

Nava

1 reference

19 October 2023

Sandro Malacrida

Sandro

Malacrida

1 reference

19 October 2023

Valeria Rossi

Valeria

Rossi

1 reference

19 October 2023

Rosanna Zimbello

Rosanna

Zimbello

1 reference

19 October 2023

Barbara Simionati

Barbara

Simionati

1 reference

19 October 2023

Gian A Danieli

Gian A

Danieli

1 reference

American Journal of Human Genetics

19 October 2023

language of work or name

English

0 references

publication date

November 2002

0 references

published in

0 references

volume

0 references

issue

0 references

page(s)

1200-6

0 references

cites work

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=385098

The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Defining the interactions between intermediate filaments and desmosomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Molecular structure of the human desmoplakin I and II amino terminus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Plakins: a family of versatile cytolinker proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Two-hybrid Analysis Reveals Fundamental Differences in Direct Interactions between Desmoplakin and Cell Type-specific Intermediate Filaments

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Structure of the human desmoplakins. Implications for function in the desmosomal plaque

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Right ventricular dysplasia: a report of 24 adult cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Right ventricular cardiomyopathy and sudden death in young people

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Sudden death in young competitive athletes: clinicopathologic correlations in 22 cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Left ventricular involvement in right ventricular dysplasia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Endogenous nitric oxide mechanisms mediate the stretch dependence of Ca2+ release in cardiomyocytes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Cadherins mediate intercellular mechanical signaling in fibroblasts by activation of stretch-sensitive calcium-permeable channels

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Desmoplakin I and desmoplakin II. Purification and characterization

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385098

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

29 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy

1 reference

12 December 2020

ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm

1 reference

12 December 2020

Identifiers

DOI

10.1086/344208

1 reference

release_sbashmh2vvamvi3rxbvliz7uni

Fatcat ID

0 references

1 reference

1 reference

1 reference