Associated Papers
Antagonistic contributions of A-type and B-type lamins to LBR localization and dynamics.
Odell J et al.
Biorxiv : the Preprint Server for Biology, 2026
A-type lamins anchor emerin at the inner nuclear membrane via two independent binding sites.
Odell J et al.
The Journal of Biological Chemistry, 2026
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Natural history of skeletal muscle laminopathies: a 2-year prospective study.
Santovito LS et al.
Neuromuscular Disorders : Nmd, 2025
Modeling the contribution of cardiac fibroblasts in dilated cardiomyopathy using induced pluripotent stem cells.
Mazarura GR et al.
Molecular Pharmacology, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Global Proteomic Analysis Reveals Alterations in Differentially Expressed Proteins between Cardiopathic Lamin A/C Mutations.
Anderson CL et al.
Journal of Proteome Research, 2024
Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain.
Ros-Arlanzón P et al.
Revista De Neurologia, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
Harnessing human genetics and stem cells for precision cardiovascular medicine.
Caudal A et al.
Cell Genomics, 2024
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.
Baskar D et al.
Journal of Neuromuscular Diseases, 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
SUMO protease SENP6 protects the nucleus from hyperSUMOylation-induced laminopathy-like alterations.
Liczmanska M et al.
Cell Reports, 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
Genetic Cardiomyopathy Masquerading as Cardiac Sarcoidosis.
Lal M et al.
Journal of the American College of Cardiology, 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
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Corrigendum: Phenotypic variability in iPSC-induced cardiomyocytes and cardiac fibroblasts carrying diverse LMNA mutations.
Yang J et al.
Frontiers in Physiology, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
[A case of laminopathy with the mutation of LMNA gene identified by the exome analysis of disease-related genes].
Nakamura K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2021
Clinical utility of genetic testing in patients with dilated cardiomyopathy.
Peña-Peña ML et al.
Medicina Clinica, 2021
The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chromatin organization.
Ramirez-Martinez A et al.
Nature Communications, 2021
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
Atalaia A et al.
Journal of Neuromuscular Diseases, 2021
Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.
Yang J et al.
Frontiers in Physiology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.
Pagola-Lorz I et al.
Orphanet Journal of Rare Diseases, 2019
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 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
Lamin missense mutations-the spectrum of phenotype variability is increasing.
Captur G et al.
European Journal of Heart Failure, 2018
Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes.
Perovanovic J et al.
Physiological Genomics, 2018
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
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.
Bernasconi P et al.
Nucleus (austin, Tex.), 2018
Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies.
Cappelletti C et al.
Nucleus (austin, Tex.), 2018
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.
Le Thanh P et al.
Neuromuscular Disorders : Nmd, 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
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies.
Iyadurai SJ et al.
Continuum (minneapolis, Minn.), 2016
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles.
Furuta M et al.
Neuromuscular Disorders : Nmd, 2016
Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys).
Finsterer J et al.
International Journal of Cardiology, 2016
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy.
Yin J et al.
Genetics and Molecular Research : Gmr, 2015
A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case.
Iwahara N et al.
Bmc Neurology, 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