Associated Papers
Cardiovascular prognostic impact of missense vs nonmissense lamin A/C variants: A systematic review and meta-analysis.
Guaricci AI et al.
Heart Rhythm, 2026
Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.
Jeong HE et al.
Scientific Reports, 2025
LMNA-Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-Derived iPSC Differentiation Support Cell Type and Lineage-Specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency.
Zaragoza MV et al.
Cells, 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
LMNA -Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-derived iPSC Differentiation Support Cell type and Lineage-specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency.
Zaragoza MV et al.
Biorxiv : the Preprint Server for Biology, 2024
Lamin A K97E leads to NF-κB-mediated dysfunction of inflammatory responses in dilated cardiomyopathy.
Sengupta D et al.
Biology of the Cell, 2024
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
Pande S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
Perinuclear damage from nuclear envelope deterioration elicits stress responses that contribute to LMNA cardiomyopathy.
Sikder K et al.
Biorxiv : the Preprint Server for Biology, 2023
Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy.
Mazzarotto F et al.
European Journal of Human Genetics : Ejhg, 2023
Lamin A/C phosphorylation at serine 22 is a conserved heat shock response to regulate nuclear adaptation during stress.
Virtanen L et al.
Journal of Cell Science, 2023
Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations.
Le Dour C et al.
Nature Communications, 2022
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
Deficient Lmna in fibroblasts: an emerging role of non-cardiomyocytes in DCM.
Wang X et al.
The Journal of Cardiovascular Aging, 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
A case report of a novel mutation in lamin A/C gene related with risk of sudden death.
Sanchez Vallejo CA et al.
European Heart Journal. Case Reports, 2022
A heterozygous p.S143P mutation in LMNA associates with proteasome dysfunction and enhanced autophagy-mediated degradation of mutant lamins A and C.
West G 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
Timing of pacemaker and ICD implantation in LMNA mutation carriers.
Ollila LH et al.
Open Heart, 2021
Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.
My I et al.
Journal of Clinical Medicine, 2021
Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation.
Dridi H et al.
Human Molecular Genetics, 2021
Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.
Jiang X et al.
Frontiers in Cell and Developmental Biology, 2021
Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.
Yang J et al.
Frontiers in Physiology, 2021
Circular RNA Expression for Dilated Cardiomyopathy in Hearts and Pluripotent Stem Cell-Derived Cardiomyocytes.
Zhang Y et al.
Frontiers in Cell and Developmental Biology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 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
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Modeling of LMNA-Related Dilated Cardiomyopathy Using Human Induced Pluripotent Stem Cells.
Shah D et al.
Cells, 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
Tamoxifen mechanically reprograms the tumor microenvironment via HIF-1A and reduces cancer cell survival.
Cortes E et al.
Embo Reports, 2019
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders.
Junttila MJ et al.
Circulation, 2018
Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.
Hasselberg NE et al.
European Heart Journal, 2018
Current insights into LMNA cardiomyopathies: Existing models and missing LINCs.
Brayson D et al.
Nucleus (austin, Tex.), 2017
Increased ventilatory response to exercise in symptomatic and asymptomatic LMNA mutation carriers: a follow-up study.
Ollila L et al.
Clinical Physiology and Functional Imaging, 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
Inhibition of late sodium current attenuates ionic arrhythmia mechanism in ventricular myocytes expressing LaminA-N195K mutation.
Markandeya YS et al.
Heart Rhythm, 2016
Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy.
West G et al.
Journal of Cell Science, 2016
Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy.
Yin J et al.
Genetics and Molecular Research : Gmr, 2015