Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Dynamic Post-translational Modifications of Nuclear Lamins in Cellular Function and Pathophysiology.
Sharma A et al.
Sub-cellular Biochemistry, 2025
The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.
Tiwari V et al.
Life Sciences, 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
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
Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.
Castrini AI et al.
Journal of the American Heart Association, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Targeted Regulation of Nuclear Lamins by Ubiquitin and Ubiquitin-Like Modifiers.
Blank M
Cells, 2020
ERK1/2 Phosphorylation of FHOD Connects Signaling and Nuclear Positioning Alternations in Cardiac Laminopathy.
Antoku S et al.
Developmental 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
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations.
Gonzalo S et al.
Ageing Research Reviews, 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
Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys).
Finsterer J et al.
International Journal of Cardiology, 2016
The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
Milting H et al.
European Heart Journal, 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
Long-term expression of the lamin A mutant associated with dilated cardiomyopathy induces senescence.
Moriuchi T et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2014
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
Zwerger M et al.
Human Molecular Genetics, 2013
Return of genetic results in the familial dilated cardiomyopathy research project.
Siegfried JD et al.
Journal of Genetic Counseling, 2013
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.
Perrot A et al.
Basic Research in Cardiology, 2009
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
Zhang YQ et al.
The Journal of Cell Biology, 2008
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
Parks SB et al.
American Heart Journal, 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
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
Wang H et al.
Biochemical and Biophysical Research Communications, 2006
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
Laminopathies and atherosclerosis.
Al-Shali KZ et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2004
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.
Sanna T et al.
European Heart Journal, 2003
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
Sébillon P et al.
Journal of Medical Genetics, 2003
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
Charniot JC et al.
Human Mutation, 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
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.
Hershberger RE et al.
American Heart Journal, 2002
Life at the edge: the nuclear envelope and human disease.
Burke B et al.
Nature Reviews. Molecular Cell Biology, 2002
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.
Krimm I et al.
Structure (london, England : 1993), 2002
A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.
Lloyd DJ et al.
Human Molecular Genetics, 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
Emery-Dreifuss muscular dystrophy.
Helbling-Leclerc A et al.
European Journal of Human Genetics : Ejhg, 2002
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
Ostlund C et al.
Journal of Cell Science, 2001