Associated Papers
Metabolic Dysregulation in Laminopathies: Implications for Heart Failure and Cardiac Health.
Torfs T et al.
Current Heart Failure Reports, 2026
LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.
Wang Z et al.
Journal of Advanced Research, 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
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Fernández-Pombo A et al.
Diabetes, Obesity & Metabolism, 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
Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA-Related Dilated Cardiomyopathy.
Chmielewski P et al.
Journal of Clinical Medicine, 2024
Clinical and genetic yield of familial screening after a sudden unexplained death at a young age.
Chmielewski P et al.
Kardiologia Polska, 2024
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
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
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
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.
Ghosh DK et al.
Aging Cell, 2022
Atomic Force Microscopy (AFM) Applications in Arrhythmogenic Cardiomyopathy.
Peña B et al.
International Journal of Molecular Sciences, 2022
Nuclear lamins: Structure and function in mechanobiology.
Vahabikashi A et al.
Apl Bioengineering, 2022
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.
Gao S et al.
American Journal of Medical Genetics. Part A, 2022
Functional Evaluation of Human Bioengineered Cardiac Tissue Using iPS Cells Derived from a Patient with Lamin Variant Dilated Cardiomyopathy.
Miura K et al.
International Heart Journal, 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
Compromised Biomechanical Properties, Cell-Cell Adhesion and Nanotubes Communication in Cardiac Fibroblasts Carrying the Lamin A/C D192G Mutation.
Lachaize V et al.
International Journal of Molecular Sciences, 2021
Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2020
Targeted Regulation of Nuclear Lamins by Ubiquitin and Ubiquitin-Like Modifiers.
Blank M
Cells, 2020
Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?
Chmielewski P et al.
Journal of Clinical Medicine, 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
Lamin A/C Cardiomyopathy: Implications for Treatment.
Chen SN et al.
Current Cardiology Reports, 2019
Ablation of SUN2-containing LINC complexes drives cardiac hypertrophy without interstitial fibrosis.
Stewart RM et al.
Molecular Biology of the Cell, 2019
Cellular and Animal Models of Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2019
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Biomechanical defects and rescue of cardiomyocytes expressing pathologic nuclear lamins.
Laurini E et al.
Cardiovascular Research, 2018
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
Interruption of progerin-lamin A/C binding ameliorates Hutchinson-Gilford progeria syndrome phenotype.
Lee SJ et al.
The Journal of Clinical Investigation, 2016
The Cardiomyopathy Lamin A/C D192G Mutation Disrupts Whole-Cell Biomechanics in Cardiomyocytes as Measured by Atomic Force Microscopy Loading-Unloading Curve Analysis.
Lanzicher T et al.
Scientific Reports, 2015
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.
Zhao Y et al.
Biomed Research International, 2015
AFM single-cell force spectroscopy links altered nuclear and cytoskeletal mechanics to defective cell adhesion in cardiac myocytes with a nuclear lamin mutation.
Lanzicher T et al.
Nucleus (austin, Tex.), 2015
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.
Yang L et al.
Plos One, 2013
Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo.
Boudreau É et al.
Plos One, 2012
Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption.
Gupta P et al.
Basic Research in Cardiology, 2010
Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation.
Fidziańska A et al.
Journal of the Neurological Sciences, 2008
A-type lamin networks in light of laminopathic diseases.
Vlcek S et al.
Biochimica Et Biophysica Acta, 2007
Dilated cardiomyopathy caused by LMNA mutations. Clinical and morphological studies.
Bilińska ZT et al.
Kardiologia Polska, 2006
Lamin A/C and cardiac diseases.
Sylvius N et al.
Current Opinion in Cardiology, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006