Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 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
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
Domain-specific association of single-nucleotide variants in the LMNA gene with the phenotypic expression of dilated cardiomyopathy.
Zhuo W et al.
International Journal of Cardiology, 2025
Modeling the contribution of cardiac fibroblasts in dilated cardiomyopathy using induced pluripotent stem cells.
Mazarura GR et al.
Molecular Pharmacology, 2025
High prevalence and distinctive clinical features of LMNA-associated atrioventricular block in young patients.
Chen X et al.
American Heart Journal, 2024
Harnessing human genetics and stem cells for precision cardiovascular medicine.
Caudal A et al.
Cell Genomics, 2024
Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.
Chatzifrangkeskou M et al.
American Journal of Physiology. Cell Physiology, 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
Association of Titin Variations With Late-Onset Dilated Cardiomyopathy.
Cannatà A et al.
Jama Cardiology, 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
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.
Yang J et al.
Frontiers in Physiology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 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 clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
Al-Saaidi RA et al.
European Journal of Heart Failure, 2018
Identification of a LMNA (c.646C>T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM.
Chen L et al.
Journal of Biomedical Research, 2018
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.
Nishiuchi S et al.
Circulation. Cardiovascular Genetics, 2017
Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.
Liu N et al.
Scientific Reports, 2017
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0