Condition: Arrhythmogenic Right Ventricular Dysplasia
rs397517404 in
DSC2 gene and
Arrhythmogenic Right Ventricular Dysplasia
PMID 21062920 2011 Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
PMID 17186466 2006 Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
PMID 26743238 2016 Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
PMID 19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
PMID 23911551 2013 Mechanistic basis of desmosome-targeted diseases.
PMID 31568572 2019 Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
PMID 31333075 2019 RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
rs121913006 in
DSG2 gene and
Arrhythmogenic Right Ventricular Dysplasia
PMID 20400443 2010 Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
PMID 25820315 2015 Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
PMID 28283360 2017 Phenotypic expression of ARVC: How 12 lead ECG can predict left or right ventricle involvement. A familiar case series and a review of literature.
PMID 23671136 2013 Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
PMID 20857253 2010 Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 20152563 2010 Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
PMID 19151369 2009 Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation.
PMID 16773573 2006 DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 23071725 2012 The ARVC-associated DSG2-p.R46Q variation was predicted to be probably damaging by bioinformatics tools and to concern a conserved proprotein convertase cleavage site.
PMID 20031616 2009 Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
PMID 21606396 2011 Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.
PMID 23381804 2013 Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.
PMID 21859740 2011 Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
PMID 21636032 2011 Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.
PMID 16505173 2006 Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.
PMID 17105751 2007 Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.
PMID 23810894 2013 Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
rs121913010 in
DSG2;DSG2-AS1 gene and
Arrhythmogenic Right Ventricular Dysplasia
PMID 16773573 2006 DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 18382419 2008 Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
rs397516915 in
DSP gene and
Arrhythmogenic Right Ventricular Dysplasia
PMID 22555271 2012 Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
PMID 19358943 2009 Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.
PMID 23810894 2013 Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
PMID 16917092 2006 Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 20716751 2010 Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
PMID 21859740 2011 Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
PMID 26850880 2016 Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.
PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.
PMID 10594734 1999 Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.
PMID 19558499 2009 Skin and heart: une liaison dangereuse.
PMID 21723241 2011 Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.
PMID 24070718 2013 Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
rs111517471 in
PKP2 gene and
Arrhythmogenic Right Ventricular Dysplasia
PMID 21636032 2011 Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.
PMID 22214898 2012 Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients.
PMID 21606396 2011 Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.
PMID 21822014 2011 Familial evaluation for diagnosis of arrhythmogenic right ventricular dysplasia.
PMID 20031616 2009 Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.
PMID 2412583 1985 How shortening a channel may lower its conductance. The case of des-Val7-DVal8-gramicidin A.
PMID 15489853 2004 Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
PMID 20400443 2010 Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
PMID 20857253 2010 Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 19358943 2009 Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.
PMID 16567567 2006 Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 17010805 2006 Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 23812740 2013 TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
PMID 16549640 2006 Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.
PMID 19955750 2010 Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders?
PMID 24704780 2014 Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.
PMID 21301620 2010 Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia.
PMID 19084810 2008 The purpose of this study was to investigate the function and distribution of an ARVC-relevant PKP2 mutant where arginine at position 79 was replaced by a stop codon (R79x).
PMID 22177269 2012 Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.
PMID 23178689 2013 Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy.
PMID 24967631 2014 Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.
PMID 25857910 2015 The introduction of the PKP2 R735X mutation into mice resulted in an exercise-dependent ARVC phenotype.
PMID 24125834 2013 Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy.
PMID 22019812 2012 PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA).
PMID 19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
PMID 23810883 2013 Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy.
PMID 20152563 2010 Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
PMID 16415378 2006 Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.
PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
PMID 20525856 2010 Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin.
PMID 24585727 2014 Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear.
PMID 18554203 2008 Gap junction remodeling in a case of arrhythmogenic right ventricular dysplasia due to plakophilin-2 mutation.
PMID 25087486 2014 Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 26264440 2016 Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population.
PMID 26676851 2016 Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking.
PMID 19880068 2009 Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.
PMID 27335691 2016 Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant.
PMID 28253841 2017 Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.
PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
PMID 19302745 2009 Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy.
PMID 25447171 2014 Post-mortem genetic analysis in juvenile cases of sudden cardiac death.
PMID 27727376 2016 Molecular Autopsy for Sudden Unexpected Death.
PMID 25820315 2015 Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
PMID 23973953 2013 Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes.
PMID 28588093 2017 Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications.
PMID 23514727 2013 Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.
PMID 28431057 2017 Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion.
PMID 23671136 2013 Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
PMID 29178656 2017 Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 23871674 2013 Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers.
PMID 28341588 2017 Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
PMID 30562116 2018 Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.
PMID 18662195 2009 Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations.
PMID 20129281 2010 Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
PMID 23347029 2013 An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management.
PMID 24200905 2013 Modeling of arrhythmogenic right ventricular cardiomyopathy with human induced pluripotent stem cells.
PMID 16774985 2006 Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies.
PMID 22458570 2012 Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
PMID 23810894 2013 Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
PMID 23871885 2013 Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
PMID 16893920 2006 Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.
PMID 19427443 2009 Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
rs63750743 in
TMEM43 gene and
Arrhythmogenic Right Ventricular Dysplasia
PMID 18313022 2008 Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
PMID 22725725 2013 The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.
PMID 24598986 2015 We screened 22 unrelated ARVC patients without mutations in desmosomal genes and identified the TMEM43-p.S358L mutation in a German ARVC family.
PMID 23812740 2013 Of 195 unrelated individuals with suspected ARVC, mutation of desmosomal proteins was seen in 28 and the p.S358L TMEM43 mutation in six.
PMID 22458570 2012 Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
PMID 21214875 2011 Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.