Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Autosomal-Recessive LMNA Dilated Cardiomyopathy.
Sterner RM et al.
Jacc. Case Reports, 2026
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.
Kubanek M et al.
Esc Heart Failure, 2024
The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models.
Wu XY et al.
Pharmaceuticals (basel, Switzerland), 2024
Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.
Inoue S et al.
Jacc. Basic to Translational Science, 2024
Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients.
Voinescu OR et al.
International Journal of Molecular Sciences, 2024
Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.
Kellermayer D et al.
The Journal of Clinical Investigation, 2024
An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.
Chang L et al.
Bmc Medical Genomics, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Novel pathogenic variant in LMNA gene identified in a six-generation family causing atrial cardiomyopathy and associated right atrial conduction arrhythmias.
Ning S et al.
Frontiers in Cardiovascular Medicine, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.
Castrini AI et al.
Journal of the American Heart Association, 2022
Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).
Zhang Y et al.
Heart Rhythm, 2022
Atrial Lesions in a Pedigree With PRKAG2 Cardiomyopathy: Involvement of Disrupted AMP-Activated Protein Kinase Signaling.
Chen S et al.
Frontiers in Cardiovascular Medicine, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
DNA methylation analysis reveals epimutation hotspots in patients with dilated cardiomyopathy-associated laminopathies.
Morival JLP et al.
Clinical Epigenetics, 2021
Establishment of an iPSC line (JSPHi001-A) from a patient with familial dilated cardiomyopathy and atrial fibrillation caused by LMNA missense mutation (c.1003C > T).
Zhang Y et al.
Stem Cell Research, 2021
Recent insight into intermediate filament structure.
Eldirany SA et al.
Current Opinion in Cell Biology, 2021
Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.
Sun Y et al.
Frontiers in Cardiovascular Medicine, 2021
The Effect of Cyclic Strain on Human Fibroblasts With Lamin A/C Mutations and Its Relation to Heart Disease.
Tran RDH et al.
Journal of Biomechanical Engineering, 2020
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Exercise is Associated With Impaired Left Ventricular Systolic Function in Patients With Lamin A/C Genotype.
Skjølsvik ET et al.
Journal of the American Heart Association, 2020
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Grelet M et al.
Orphanet Journal of Rare Diseases, 2019
Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis.
Lambert JC et al.
Joint Bone Spine, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Genomic characterization in dilated cardiomyopathy.
Costa MC
Revista Portuguesa De Cardiologia, 2019
Genetic variants identified by target next-generation sequencing in heart transplant patients with dilated cardiomyopathy.
Martins E et al.
Revista Portuguesa De Cardiologia, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Molecular characterization of Portuguese patients with dilated cardiomyopathy.
Sousa A et al.
Revista Portuguesa De Cardiologia, 2019
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.
Lu C et al.
Journal of Translational Medicine, 2018
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Murray B et al.
Journal of Cardiovascular Electrophysiology, 2018
Nuclear Lamins: Thin Filaments with Major Functions.
de Leeuw R et al.
Trends in Cell Biology, 2018
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.
Nishiuchi S et al.
Circulation. Cardiovascular Genetics, 2017
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.
Zaragoza MV et al.
Clinical Genetics, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.
Madej-Pilarczyk A et al.
Journal of Applied Genetics, 2017
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.
Core JQ et al.
Plos One, 2017
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders.
Anselme F et al.
Heart Rhythm, 2013