Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L140P
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LMNA

NM_170707.4:p.L140P

Associated Papers

Major arrhythmias in non-dilated left ventricular cardiomyopathy: a novel prediction score.

Peretto G et al.

European Heart Journal, 2026

Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.

Cenni V et al.

Cells, 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

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Anderson CL et al.

Npj Genomic Medicine, 2021

34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf

PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation.

Santi S et al.

Cells, 2020

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )
Supplement: MUS-61-436-s001.docx

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.

Peretto G et al.

Annals of Internal Medicine, 2019

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

28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle.

Mattioli E et al.

Cell Death and Differentiation, 2011

Epimyocardium-dominant electrical impairment in a patient with cardiolaminopathy.

Nakajima T et al.

Journal of Cardiovascular Electrophysiology, 2011

Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.

Mitsuhashi H et al.

Journal of Cell Science, 2010

The laminopathies: a clinical review.

Rankin J et al.

Clinical Genetics, 2006

Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.

Cenni V et al.

Journal of Medical Genetics, 2005

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

Kirschner J et al.

Annals of Neurology, 2005

Laminopathies: from the heart of the cell to the clinics.

Benedetti S et al.

Current Opinion in Neurology, 2004

Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.

Boriani G et al.

Stroke, 2003

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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."