Associated Papers
Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
Martínez-Barrios E et al.
International Journal of Molecular Sciences, 2026
Major arrhythmias in non-dilated left ventricular cardiomyopathy: a novel prediction score.
Peretto G et al.
European Heart Journal, 2026
Cardiomyopathies, heart rhythm and conduction disorders as phenotypic manifestation of genetic variants in large cohort of cardiac patients: results of whole-genome study.
Rimskaya EM et al.
Gene, 2026
Cardiovascular prognostic impact of missense vs nonmissense lamin A/C variants: A systematic review and meta-analysis.
Guaricci AI et al.
Heart Rhythm, 2026
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Nuclear-lamin-guided plastic positioning and folding of the human genome.
Wang Z et al.
Cell Reports, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.
Wang Z et al.
Journal of Advanced Research, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Liquid-liquid phase separation of lamin drives altered chromatin organization in cardiomyopathic mutations of lamin A.
Nath S et al.
Nucleic Acids Research, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Changes in Chromatin Organisation and Mechanotransduction Mediated by Mutant Lamins in Laminopathies.
Nath S et al.
Sub-cellular Biochemistry, 2025
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
The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.
Tiwari V et al.
Life Sciences, 2024
Primate Model Carrying LMNA Mutation Develops Dilated Cardiomyopathy.
Luo X et al.
Jacc. Basic to Translational Science, 2024
Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.
Kellermayer D et al.
The Journal of Clinical Investigation, 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
Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients.
García-Vielma C et al.
Molecular Genetics and Genomics : Mgg, 2023
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 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
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
Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation.
Cattelan G et al.
Stem Cell Research, 2023
Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.
Gregory EF et al.
Plos Genetics, 2023
Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.
Chatzifrangkeskou M et al.
American Journal of Physiology. Cell Physiology, 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
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.
Ghosh DK et al.
Aging Cell, 2022
Allele-specific differential regulation of monoallelically expressed autosomal genes in the cardiac lineage.
Balasooriya GI et al.
Nature Communications, 2022
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D et al.
Science (new York, N.y.), 2022
Personalized Medicine Approach in a DCM Patient with LMNA Mutation Reveals Dysregulation of mTOR Signaling.
Neupane B et al.
Journal of Personalized Medicine, 2022
Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.
Castrini AI et al.
Journal of the American Heart Association, 2022
Atomic Force Microscopy (AFM) Applications in Arrhythmogenic Cardiomyopathy.
Peña B et al.
International Journal of Molecular Sciences, 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
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants.
Ferradini V et al.
Journal of Clinical Medicine, 2021
Timing of pacemaker and ICD implantation in LMNA mutation carriers.
Ollila LH et al.
Open Heart, 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
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Altered microtubule structure, hemichannel localization and beating activity in cardiomyocytes expressing pathologic nuclear lamin A/C.
Borin D et al.
Heliyon, 2020
Viscoelastic behavior of cardiomyocytes carrying LMNA mutations.
Borin D et al.
Biorheology, 2020