Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K117fs
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LMNA

NM_170707.4:p.K117fs

Associated Papers

Telomere shortening in laminopathic dilated cardiomyopathy.

Chang ACY et al.

Npj Regenerative Medicine, 2026

Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.

van der Wilt CN et al.

European Heart Journal Open, 2026

41536960 (PubMed )
Supplement: oeaf161_supplementary_data.zip › Table_S1_20251130.xlsx › Sheet1

Prime editing corrects the dilated cardiomyopathy causing RBM20-P633L-mutation in human cardiomyocytes.

Roman A et al.

Molecular Therapy. Nucleic Acids, 2025

LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.

Wang Z et al.

Journal of Advanced Research, 2025

Dilated cardiomyopathy: from genes and molecules to potential treatments.

Wang X et al.

Molecular and Cellular Biochemistry, 2025

Exploring the Role of Genetic and Genomic Factors in Therapeutic Response to Heart Failure: A Comprehensive Analytical Review.

Ferro A et al.

Genes, 2025

LMNA-Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-Derived iPSC Differentiation Support Cell Type and Lineage-Specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency.

Zaragoza MV et al.

Cells, 2024

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

Genetics and Pharmacogenetics of Atrial Fibrillation: A Mechanistic Perspective.

Owais A et al.

Jacc. Basic to Translational Science, 2024

LMNA -Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-derived iPSC Differentiation Support Cell type and Lineage-specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency.

Zaragoza MV et al.

Biorxiv : the Preprint Server for Biology, 2024

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.

Tiwari V et al.

Life Sciences, 2024

A case report of a rare genetic mutation (LMNA-C.185G>C, p.Arg62Pro) associated with dilated cardiomyopathy in a Han Chinese child.

Xu X et al.

Frontiers in Cardiovascular Medicine, 2024

Epigenetics in LMNA-Related Cardiomyopathy.

Wang Y et al.

Cells, 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

Deficient Lmna in fibroblasts: an emerging role of non-cardiomyocytes in DCM.

Wang X et al.

The Journal of Cardiovascular Aging, 2022

Functional Evaluation of Human Bioengineered Cardiac Tissue Using iPS Cells Derived from a Patient with Lamin Variant Dilated Cardiomyopathy.

Miura K et al.

International Heart Journal, 2022

Genome organization in cardiomyocytes expressing mutated A-type lamins.

Kervella M et al.

Frontiers in Cell and Developmental Biology, 2022

A novel LMNA indel mutation identified in a family with atrioventricular block and atrial fibrillation.

Jia Z et al.

Medicine, 2021

Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.

Jiang X et al.

Frontiers in Cell and Developmental Biology, 2021

Drug Development and the Use of Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Disease Modeling and Drug Toxicity Screening.

Ovics P et al.

International Journal of Molecular Sciences, 2020

Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease.

Gao Y et al.

Medicine, 2020

Clinical trial in a dish using iPSCs shows lovastatin improves endothelial dysfunction and cellular cross-talk in LMNA cardiomyopathy.

Sayed N et al.

Science Translational Medicine, 2020

Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.

Lee J et al.

Nature, 2019

A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.

Wilson KD et al.

Circulation Research, 2015

Genetic testing for dilated cardiomyopathy in clinical practice.

Lakdawala NK et al.

Journal of Cardiac Failure, 2012

A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death.

Pan H et al.

Heart Rhythm, 2009

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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."