Associated Papers
Attenuated lamin A-Prohibitin2 interaction leads to mitochondrial dysfunction in LMNA 289 A>G mediated Dilated Cardiomyopathy.
Nath S et al.
The Journal of Biological Chemistry, 2026
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 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
Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.
Shah RA et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025
Changes in Chromatin Organisation and Mechanotransduction Mediated by Mutant Lamins in Laminopathies.
Nath S et al.
Sub-cellular Biochemistry, 2025
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
Lamin A K97E leads to NF-κB-mediated dysfunction of inflammatory responses in dilated cardiomyopathy.
Sengupta D et al.
Biology of the Cell, 2024
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
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
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
Significance of 1B and 2B domains in modulating elastic properties of lamin A.
Bera M et al.
Scientific Reports, 2016
Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy.
Yin J et al.
Genetics and Molecular Research : Gmr, 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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Structural alterations of Lamin A protein in dilated cardiomyopathy.
Bhattacharjee P et al.
Biochemistry, 2013
Long-term outcome and risk stratification in dilated cardiolaminopathies.
Pasotti M et al.
Journal of the American College of Cardiology, 2008
Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy.
Moric-Janiszewska E et al.
Clinical Cardiology, 2008
Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans.
Song K et al.
Experimental & Molecular Medicine, 2007
Nuclear envelope defects in muscular dystrophy.
Roux KJ et al.
Biochimica Et Biophysica Acta, 2007
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Gene symbol: CMD1A. Disease: Dilated cardiomyopathy associated with conduction system disease.
Arbustini EA et al.
Human Genetics, 2005
Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1.
Arbustini Eloisa AE et al.
Human Genetics, 2005
Mechanisms of inherited cardiac conduction disease.
Smits JP et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2005
Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene.
Otomo J et al.
Journal of Cardiovascular Electrophysiology, 2005
[Diseases associated with lamin A/C gene defects: what the clinical cardiologist ought to know].
Pasotti M et al.
Italian Heart Journal. Supplement : Official Journal of the Italian Federation of Cardiology, 2004
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.
Sanna T et al.
European Heart Journal, 2003
Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects.
Verga L et al.
Virchows Archiv : an International Journal of Pathology, 2003
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
Taylor MR et al.
Journal of the American College of Cardiology, 2003
[Genetic diagnosis of familial dilated cardiomyopathy].
Pasotti M et al.
Italian Heart Journal. Supplement : Official Journal of the Italian Federation of Cardiology, 2002
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
Arbustini E et al.
Journal of the American College of Cardiology, 2002
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0