A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes

(2020) Maria Franaszczyk et al.   Journal of Clinical Medicine

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct from Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

(2020) Eric D. Smith et al.   CIRCULATION

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene

(2020) Wolfgang Poller et al.   Journal of the American Heart Association

Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

(2020) Przemyslaw Chmielewski et al.   Journal of Clinical Medicine

Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant

(2020) Antheia Kissopoulou et al.   ESC Heart Failure

Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria

(2020) Domenico Corrado et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

MCC950 blocks enhanced interleukin-1β production in patients with NLRP3 low penetrance variants

(2019) E. Schuh et al.   CLINICAL IMMUNOLOGY

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

(2019) Perry M. Elliott et al.   EUROPEAN JOURNAL OF HEART FAILURE

Therapeutic Modulation of the Immune Response in Arrhythmogenic Cardiomyopathy

(2019) Stephen P. Chelko et al.   CIRCULATION

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

(2018) Joanna Zakrzewska-Koperska et al.   BMC Medical Genetics

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics

(2018) W. Rae et al.   CLINICAL GENETICS

Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy

(2018) Omar Bari et al.   PEDIATRIC DERMATOLOGY

Approximation of the Incidence of Myocarditis by Systematic Screening With Cardiac Magnetic Resonance Imaging

(2018) Dimitri Patriki et al.   JACC-Heart Failure

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Whole exome sequencing with genomic triangulation implicatesCDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy

(2017) Kari L. Turkowski et al.   Congenital Heart Disease

Brief Report: Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3 : Diagnostic and Therapeutic Challenges

(2017) J. B. Kuemmerle-Deschner et al.   Arthritis & Rheumatology

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

(2016) Martín F. Ortiz-Genga et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2015) Grażyna T Truszkowska et al.   BMC Medical Genetics

A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants

(2015) Nikolaus Rieber et al.   CLINICAL IMMUNOLOGY

Mechanisms and Functions of Inflammasomes

(2014) Mohamed Lamkanfi et al.   CELL

Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

(2014) Rafał Płoski et al.   CIRCULATION RESEARCH

Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS)

(2014) M. H. Haverkamp et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Multifocal Ectopic Purkinje-Related Premature Contractions

(2012) Gabriel Laurent et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Common Genetic Variations in the NALP3 Inflammasome Are Associated with Delayed Apoptosis of Human Neutrophils

(2012) Robert Blomgran et al.   PLoS One

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

(2011) P. Garcia-Pavia et al.   HEART

Identification and characterization of DSPIa, a novel isoform of human desmoplakin

(2010) Rita M. Cabral et al.   CELL AND TISSUE RESEARCH

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

(2010) Frank I. Marcus et al.   CIRCULATION

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

(2010) Perry Elliott et al.   Circulation-Cardiovascular Genetics

In vivo regulation of interleukin 1β in patients with cryopyrin-associated periodic syndromes

(2009) Helen J. Lachmann et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities

(2009) My G. Mahoney et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY