Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 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
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
Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants.
Ferradini V et al.
Journal of Clinical Medicine, 2021
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 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
Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy.
West G et al.
Journal of Cell Science, 2016
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
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy.
Narula N et al.
Journal of the American College of Cardiology, 2012
Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.
Magagnotti C et al.
Biochimica Et Biophysica Acta, 2012
A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report.
Botto N et al.
Cardiovascular Ultrasound, 2010
[A novel lamin A/C mutation in a family with dilated cardiomyopathy and a strong history of sudden cardiac death].
Andreassi MG et al.
Recenti Progressi in Medicina, 2010
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0