Associated Papers
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Calcium handling remodeling in dilated cardiomyopathy: From molecular mechanisms to targeted therapies.
Wang Y et al.
Channels (austin, Tex.), 2025
Variant-Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA-Related Cardiomyopathy.
Castrichini M et al.
Journal of the American Heart Association, 2025
Environmental Risk Factors Are Associated With the Natural History of Familial Dilated Cardiomyopathy.
Peters SA et al.
Journal of the American Heart Association, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Endoplasmic reticulum stress in cardiomyopathies: from the unfolded protein response to therapeutic opportunities.
Qiu Y et al.
Frontiers in Cardiovascular Medicine, 2025
Ambiguous Clinical Presentations and Imaging Findings in Genetic Dilated Cardiomyopathy.
Ahmed MU et al.
Jacc. Case Reports, 2024
Cold case files: A tale of three sisters - solved by genetic testing with implications for LMNA cardiomyopathy.
Vlay SC
Pacing and Clinical Electrophysiology : Pace, 2024
Thirty-five-year follow-up of 3 generations of a family with LMNA cardiomyopathy.
Vlay SC
Heart Rhythm, 2024
The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.
Tiwari V et al.
Life Sciences, 2024
High prevalence and distinctive clinical features of LMNA-associated atrioventricular block in young patients.
Chen X et al.
American Heart Journal, 2024
Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.
Kellermayer D et al.
The Journal of Clinical Investigation, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Intermediate filaments in the heart: The dynamic duo of desmin and lamins orchestrates mechanical force transmission.
West G et al.
Current Opinion in Cell Biology, 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
Targeting unfolded protein response reverts ER stress and ER Ca2+ homeostasis in cardiomyocytes expressing the pathogenic variant of Lamin A/C R321X.
Pietrafesa G et al.
Journal of Translational Medicine, 2023
TOR1AIP1-Associated Nuclear Envelopathies.
Mackels L et al.
International Journal of Molecular Sciences, 2023
Case Report: Four cases of cardiac sarcoidosis in patients with inherited cardiomyopathy-a phenotypic overlap, co-existence of two rare cardiomyopathies or a second-hit disease.
Ebbinghaus H 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
Leukocyte Nuclear Morphology Alterations in Dilated Cardiomyopathy Caused by a Lamin AC Truncating Mutation (LMNA/Ser431*) Are Modified by the Presence of a LAP2 Missense Polymorphism (TMPO/Arg690Cys).
González-Garrido A et al.
International Journal of Molecular Sciences, 2022
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT et al.
European Journal of Preventive Cardiology, 2022
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D et al.
Science (new York, N.y.), 2022
Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.
Resdal Dyssekilde J et al.
Journal of the American Heart Association, 2022
Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.
Castrini AI et al.
Journal of the American Heart Association, 2022
Association of Titin Variations With Late-Onset Dilated Cardiomyopathy.
Cannatà A et al.
Jama Cardiology, 2022
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Glazer AM et al.
Circulation, 2022
Engineered pegRNAs improve prime editing efficiency.
Nelson JW et al.
Nature Biotechnology, 2022
Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X.
De Zio R et al.
Frontiers in Cell and Developmental Biology, 2022
Pro-inflammatory cytokines as emerging molecular determinants in cardiolaminopathies.
Gerbino A et al.
Journal of Cellular and Molecular Medicine, 2021
Clinical utility of genetic testing in patients with dilated cardiomyopathy.
Peña-Peña ML et al.
Medicina Clinica, 2021
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
Atalaia A et al.
Journal of Neuromuscular Diseases, 2021
Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes.
Sielemann K et al.
Genes, 2020
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.
Hayashi K et al.
Cardiovascular Research, 2020
LMNA Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy.
Kato K et al.
Circulation. Genomic and Precision Medicine, 2020
Clinical and Genetic Investigations of 109 Index Patients With Dilated Cardiomyopathy and 445 of Their Relatives.
Hey TM et al.
Circulation. Heart Failure, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents.
DeWitt ES et al.
Journal of the American College of Cardiology, 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
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
Domínguez F et al.
Journal of the American College of Cardiology, 2018
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 2018
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.
Hasselberg NE et al.
European Heart Journal, 2018
Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies.
Gerbino A et al.
Frontiers in Physiology, 2018