(Q24656100)

English

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

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scholarly article

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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 (English)

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arrhythmogenic right ventricular cardiomyopathy

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object named as

Nancy D Merner

1

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Terry-Lynn Young

object named as

Terry-Lynn Young

15

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author name string

Kathy A Hodgkinson

2

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Annika F M Haywood

3

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Sean Connors

4

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Vanessa M French

5

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Jörg-Detlef Drenckhahn

6

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Christine Kupprion

7

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Kalina Ramadanova

8

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Ludwig Thierfelder

9

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William McKenna

10

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Barry Gallagher

11

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Lynn Morris-Larkin

12

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Anne S Bassett

13

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Patrick S Parfrey

14

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language of work or name

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publication date

April 2008

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American Journal of Human Genetics

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82

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4

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809-21

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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=2427209

7 April 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=2427209

7 April 2017

ExPASy: The proteomics server for in-depth protein knowledge and analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

7 April 2017

PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

7 April 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=2427209

7 April 2017

WebLogo: A Sequence Logo Generator

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

7 April 2017

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=2427209

7 April 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=2427209

7 April 2017

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

7 April 2017

NPS@: network protein sequence analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

7 April 2017

Genome-wide identification of peroxisome proliferator response elements using integrated computational genomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 September 2017

SNPs3D: candidate gene and SNP selection for association studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 September 2017

Genetics of right ventricular cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 September 2017

Etiopathogenesis 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=2427209

28 September 2017

The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 September 2017

The Newfoundland population: a unique resource for genetic investigation of complex diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 September 2017

Accounting for human polymorphisms predicted to affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 September 2017

Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 September 2017

Arrhythmogenic right ventricular cardiomyopathy: diagnosis, prognosis, and treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 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=2427209

28 September 2017

A long term follow up of 15 patients with arrhythmogenic right ventricular dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 September 2017

Standards for analysis of ventricular late potentials using high-resolution or signal-averaged electrocardiography: a statement by a task force committee of the European Society of Cardiology, the American Heart Association, and the American College

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 September 2017

Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

30 May 2018

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

30 May 2018

Echocardiographic measurements in normal subjects. Growth-related changes that occur between infancy and early adulthood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

30 May 2018

Left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy demonstrated by multidetector-row computed tomography.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 November 2018

Very high incidence of familial colorectal cancer in Newfoundland: a comparison with Ontario and 13 other population-based studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 November 2018

Arrhythmogenic right ventricular cardiomyopathy in two pairs of monozygotic twins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 November 2018

Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 November 2018

Left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy - a scintigraphic and echocardiographic study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 November 2018

Echocardiographic measurements in normal subjects from infancy to old age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427209

28 November 2018

Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria

1 reference

https://pubmed.ncbi.nlm.nih.gov/18313022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Total disconnection of the right ventricular free wall: surgical treatment of right ventricular tachycardia associated with right ventricular dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18313022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arrhythmogenic right ventricular cardiomyopathies: clinical forms and main differential diagnoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/18313022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Right ventricular dysplasia with biventricular involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/18313022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Left ventricular involvement in right ventricular dysplasia/cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18313022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18313022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18313022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Right ventricular cardiomyopathy and sudden death in young people

1 reference

https://api.crossref.org/works/10.1016%2FJ.AJHG.2008.01.010

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/J.AJHG.2008.01.010

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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