Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.N195K
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LMNA

NM_170707.4:p.N195K

Associated Papers

Perinuclear organelle trauma at the nexus of cardiomyopathy pathogenesis arising from loss of function LMNA mutation.

Choi JC

Nucleus (austin, Tex.), 2025

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

Wang Z et al.

Journal of Advanced Research, 2025

Microtubule forces drive nuclear damage in LMNA cardiomyopathy.

Amiad Pavlov D et al.

Nature Cardiovascular Research, 2025

Nuclear envelope rupture in cardiomyocytes orchestrates early transcriptomic changes and immune activation in LMNA -DCM that are reversed by LINC complex disruption.

Zuela-Sopilniak N et al.

Biorxiv : the Preprint Server for Biology, 2025

Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.

Zielińska A et al.

Cells, 2025

Variant-Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA-Related Cardiomyopathy.

Castrichini M et al.

Journal of the American Heart Association, 2025

Cardiac fibroblasts counterbalance cardiomyocytes in LMNA cardiomyopathy pathogenesis.

Sikder K et al.

Biorxiv : the Preprint Server for Biology, 2025

Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.

Pendyala S et al.

Biorxiv : the Preprint Server for Biology, 2025

Lamin variants cause cardiac arrhythmogenicity in Drosophila.

van Wijk SW et al.

Disease Models & Mechanisms, 2025

Evaluation of lamin A/C mechanotransduction under different surface topography in LMNA related muscular dystrophy.

Dutta S et al.

Cytoskeleton (hoboken, N.j.), 2025

Microtubule forces drive nuclear damage in LMNA cardiomyopathy.

Pavlov DA et al.

Biorxiv : the Preprint Server for Biology, 2025

Cardiac phenotypes in LMNA mutations.

Rouhi L

Current Opinion in Cardiology, 2025

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies.

Bhide S et al.

Genes, 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

Characteristics of nuclear architectural abnormalities of myotubes differentiated from LmnaH222P/H222P skeletal muscle cells.

Wada E et al.

In Vitro Cellular & Developmental Biology. Animal, 2024

Global Proteomic Analysis Reveals Alterations in Differentially Expressed Proteins between Cardiopathic Lamin A/C Mutations.

Anderson CL et al.

Journal of Proteome Research, 2024

Cold case files: A tale of three sisters - solved by genetic testing with implications for LMNA cardiomyopathy.

Vlay SC

Pacing and Clinical Electrophysiology : Pace, 2024

Eliminating elevated p53 signaling fails to rescue skeletal muscle defects or extend survival in lamin A/C-deficient mice.

Kirby TJ et al.

Cell Death Discovery, 2024

Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review.

Politano L

International Journal of Molecular Sciences, 2024

Perinuclear damage from nuclear envelope deterioration elicits stress responses that contribute to LMNA cardiomyopathy.

Sikder K et al.

Science Advances, 2024

From gene to mechanics: a comprehensive insight into the mechanobiology of LMNA mutations in cardiomyopathy.

Veltrop RJA et al.

Cell Communication and Signaling : Ccs, 2024

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

Tiwari V et al.

Life Sciences, 2024

Intermediate filaments in the heart: The dynamic duo of desmin and lamins orchestrates mechanical force transmission.

West G et al.

Current Opinion in Cell Biology, 2023

An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.

Chang L et al.

Bmc Medical Genomics, 2023

New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.

Sharma AK et al.

Scientific Reports, 2023

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

Lamin A/C Ablation Restricted to Vascular Smooth Muscle Cells, Cardiomyocytes, and Cardiac Fibroblasts Causes Cardiac and Vascular Dysfunction.

Del Monte-Monge A et al.

International Journal of Molecular Sciences, 2023

Perinuclear damage from nuclear envelope deterioration elicits stress responses that contribute to LMNA cardiomyopathy.

Sikder K et al.

Biorxiv : the Preprint Server for Biology, 2023

Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.

Chatzifrangkeskou M et al.

American Journal of Physiology. Cell Physiology, 2023

Epigenetics in LMNA-Related Cardiomyopathy.

Wang Y et al.

Cells, 2023

Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.

Kim HJ et al.

Frontiers in Cell and Developmental 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

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

Wang X et al.

The Journal of Cardiovascular Aging, 2022

Animal Models to Study Cardiac Arrhythmias.

Blackwell DJ et al.

Circulation Research, 2022

Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.

Castrini AI et al.

Journal of the American Heart Association, 2022

35434999 (PubMed )
Supplement: JAH3-11-e024960-s001.pdf

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Atomic Force Microscopy (AFM) Applications in Arrhythmogenic Cardiomyopathy.

Peña B et al.

International Journal of Molecular Sciences, 2022

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

van Wijk SW et al.

Cells, 2022

Genetic predisposition study of heart failure and its association with cardiomyopathy.

Kaviarasan V et al.

The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2022

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

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient.

Perepelina K et al.

Frontiers in Cardiovascular Medicine, 2022

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

Anderson CL et al.

Npj Genomic Medicine, 2021

Phosphorylation of Lamin A/C at serine 22 modulates Nav 1.5 function.

Olaopa MA et al.

Physiological Reports, 2021

Preclinical Advances of Therapies for Laminopathies.

Benarroch L et al.

Journal of Clinical Medicine, 2021

Disrupting the LINC complex by AAV mediated gene transduction prevents progression of Lamin induced cardiomyopathy.

Chai RJ et al.

Nature Communications, 2021

Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination.

Omer S et al.

Clinical Genetics, 2021

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