Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E111*
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LMNA

NM_170707.4:p.E111*

Associated Papers

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

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

Intermediate filaments in cardiomyopathy.

Tsikitis M et al.

Biophysical Reviews, 2018

Genetic causes of dilated cardiomyopathy.

Favalli V et al.

Heart (british Cardiac Society), 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

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

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

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

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.

Muchir A et al.

Experimental Cell Research, 2003

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.

Sanna T et al.

European Heart Journal, 2003

The nucleoskeleton: lamins and actin are major players in essential nuclear functions.

Shumaker DK et al.

Current Opinion in Cell Biology, 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

30402260 (PubMed )
Supplement: openhrt-2018-000915supp001.docx
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."