Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
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
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
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies.
Armaroli A et al.
Circulation. Genomic and Precision Medicine, 2020
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
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
Impaired mechanical response of an EDMD mutation leads to motility phenotypes that are repaired by loss of prenylation.
Zuela N 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
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
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
Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.
Brodt C et al.
Journal of Cardiac Failure, 2013
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
Cowan J et al.
Circulation. Cardiovascular Genetics, 2010
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
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
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
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.
Sanna T et al.
European Heart Journal, 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
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0