Related references
Note: Only part of the references are listed.Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes
Maria Franaszczyk et al.
JOURNAL OF CLINICAL MEDICINE (2020)
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy
Eric D. Smith et al.
CIRCULATION (2020)
Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene
Wolfgang Poller et al.
JOURNAL OF THE AMERICAN HEART ASSOCIATION (2020)
Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?
Przemyslaw Chmielewski et al.
JOURNAL OF CLINICAL MEDICINE (2020)
Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant
Antheia Kissopoulou et al.
ESC HEART FAILURE (2020)
Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria
Domenico Corrado et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2020)
MCC950 blocks enhanced interleukin-1β production in patients with NLRP3 low penetrance variants
E. Schuh et al.
CLINICAL IMMUNOLOGY (2019)
Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report
Perry M. Elliott et al.
EUROPEAN JOURNAL OF HEART FAILURE (2019)
Therapeutic Modulation of the Immune Response in Arrhythmogenic Cardiomyopathy
Stephen P. Chelko et al.
CIRCULATION (2019)
Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report
Joanna Zakrzewska-Koperska et al.
BMC MEDICAL GENETICS (2018)
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics
W. Rae et al.
CLINICAL GENETICS (2018)
Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy
Omar Bari et al.
PEDIATRIC DERMATOLOGY (2018)
Approximation of the Incidence of Myocarditis by Systematic Screening With Cardiac Magnetic Resonance Imaging
Dimitri Patriki et al.
JACC-HEART FAILURE (2018)
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome
Alcy Torres et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2018)
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria
Keith Nykamp et al.
GENETICS IN MEDICINE (2017)
Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy
Kari L. Turkowski et al.
CONGENITAL HEART DISEASE (2017)
Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges
J. B. Kuemmerle-Deschner et al.
ARTHRITIS & RHEUMATOLOGY (2017)
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
Martin F. Ortiz-Genga et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations
Grazyna T. Truszkowska et al.
BMC MEDICAL GENETICS (2015)
A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants
Nikolaus Rieber et al.
CLINICAL IMMUNOLOGY (2015)
Mechanisms and Functions of Inflammasomes
Mohamed Lamkanfi et al.
CELL (2014)
Does p. Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?
Rafal Ploski et al.
CIRCULATION RESEARCH (2014)
Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS)
M. H. Haverkamp et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2014)
Multifocal Ectopic Purkinje-Related Premature Contractions A New SCN5A-Related Cardiac Channelopathy
Gabriel Laurent et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2012)
Common Genetic Variations in the NALP3 Inflammasome Are Associated with Delayed Apoptosis of Human Neutrophils
Robert Blomgran et al.
PLOS ONE (2012)
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study
Pablo Garcia-Pavia et al.
HEART (2011)
Identification and characterization of DSPIa, a novel isoform of human desmoplakin
Rita M. Cabral et al.
CELL AND TISSUE RESEARCH (2010)
Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Proposed Modification of the Task Force Criteria
Frank I. Marcus et al.
CIRCULATION (2010)
Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy
Perry Elliott et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2010)
Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities
My G. Mahoney et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2010)
In vivo regulation of interleukin 1β in patients with cryopyrin-associated periodic syndromes
Helen J. Lachmann et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2009)
The clinical continuum of cryopyrinopathies -: Novel CIAS1 mutations in north American patients and a new cryopyrin model
Ivona Aksentijevich et al.
ARTHRITIS AND RHEUMATISM (2007)
Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3
TD Kanneganti et al.
NATURE (2006)
Cryopyrin activates the inflammasome in response to toxins and ATP
S Mariathasan et al.
NATURE (2006)
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
A Uzumcu et al.
JOURNAL OF MEDICAL GENETICS (2006)
Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene
JI Aróstegui et al.
ARTHRITIS AND RHEUMATISM (2004)
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
A Rampazzo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease
E Arbustini et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2002)