Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q517*
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LMNA

NM_170707.4:p.Q517*

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

Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA-Related Dilated Cardiomyopathy.

Chmielewski P et al.

Journal of Clinical Medicine, 2024

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

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

Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X.

De Zio R et al.

Frontiers in Cell and Developmental Biology, 2022

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Atalaia A et al.

Journal of Neuromuscular Diseases, 2021

33682723 (PubMed )
Supplement: jnd-8-jnd200596-s002.xlsx › Sheet1

Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

Chmielewski P et al.

Journal of Clinical Medicine, 2020

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

Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Forleo C et al.

Plos One, 2017

Lamin A/C mutations in dilated cardiomyopathy.

Tesson F et al.

Cardiology Journal, 2014

Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.

Stallmeyer B et al.

Genetic Testing and Molecular Biomarkers, 2012

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

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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."