Associated Papers
Lamin A/C-regulated cysteine catabolic flux modulates stem cell fate through epigenome reprogramming.
Wang Y et al.
Nature Metabolism, 2026
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
The role of iPSC research for insight into inherited arrhythmia conditions.
Josvai MB et al.
Heart Rhythm, 2025
Role of Nuclear Lamins in the Regulation of the Genome: Focus on CardioLaminopathy.
Kervella M et al.
Sub-cellular Biochemistry, 2025
Cardiomyopathy: pathogenesis and therapeutic interventions.
Huang S et al.
Medcomm, 2024
Genetics and Pharmacogenetics of Atrial Fibrillation: A Mechanistic Perspective.
Owais A et al.
Jacc. Basic to Translational Science, 2024
The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.
Tiwari V et al.
Life Sciences, 2024
Enhanced cell viscosity: A new phenotype associated with lamin A/C alterations.
Jebane C et al.
Iscience, 2023
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
Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.
Chatzifrangkeskou M et al.
American Journal of Physiology. Cell Physiology, 2023
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.
Stroeks SLVM et al.
Circulation. Genomic and Precision Medicine, 2023
Mechanistic Insights of the LEMD2 p.L13R Mutation and Its Role in Cardiomyopathy.
Chen R et al.
Circulation Research, 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
Clinical Profile, Arrhythmias, and Adverse Cardiac Outcomes in Emery-Dreifuss Muscular Dystrophies: A Systematic Review of the Literature.
Valenti AC et al.
Biology, 2022
Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.
Daimi H et al.
International Journal of Molecular Sciences, 2022
Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.
van Wijk SW et al.
Cells, 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
LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient.
Perepelina K et al.
Frontiers in Cardiovascular Medicine, 2022
Genome organization in cardiomyocytes expressing mutated A-type lamins.
Kervella M et al.
Frontiers in Cell and Developmental Biology, 2022
Case report: Lamin A/C gene mutation in patient with drug-induced type 1 Brugada syndrome at high arrhythmic risk.
Russo V et al.
Frontiers in Cardiovascular Medicine, 2022
Pro-inflammatory cytokines as emerging molecular determinants in cardiolaminopathies.
Gerbino A et al.
Journal of Cellular and Molecular Medicine, 2021
Preclinical Advances of Therapies for Laminopathies.
Benarroch L et al.
Journal of Clinical Medicine, 2021
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.
Maggi L et al.
International Journal of Molecular Sciences, 2021
Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.
My I et al.
Journal of Clinical Medicine, 2021
Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.
Yang J et al.
Frontiers in Physiology, 2021
LMNA Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy.
Kato K et al.
Circulation. Genomic and Precision Medicine, 2020
Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease.
Gao Y et al.
Medicine, 2020
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies.
Armaroli A et al.
Circulation. Genomic and Precision Medicine, 2020
The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype.
Crasto S et al.
Frontiers in Physiology, 2020
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
Chromatin compartment dynamics in a haploinsufficient model of cardiac laminopathy.
Bertero A et al.
The Journal of Cell Biology, 2019
Challenging the "chromatin hypothesis" of cardiac laminopathies with LMNA mutant iPS cells.
Mozzetta C et al.
The Journal of Cell Biology, 2019
The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy.
Salvarani N et al.
Nature Communications, 2019
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
Akinrinade O et al.
Scientific Reports, 2019
Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases.
Refaat MM et al.
Bmc Medical Genomics, 2019
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
The Pathogenesis and Therapies of Striated Muscle Laminopathies.
Brull A et al.
Frontiers in Physiology, 2018
DCM associated LMNA mutations cause distortions in lamina structure and assembly.
Bhattacharjee P et al.
Biochimica Et Biophysica Acta. General Subjects, 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
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
Zaragoza MV et al.
Plos One, 2016
A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies.
Gigli M et al.
Frontiers in Cardiovascular Medicine, 2016