Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R119Splc
Back to variants list

LMNA

NM_170707.4:p.R119Splc

Associated Papers

Generation of induced pluripotent stem cell lines from patients with Emery-Dreifuss muscular dystrophy.

Chorsi MS et al.

Stem Cell Research, 2026

Recent insights in striated muscle laminopathies.

Leconte M et al.

Current Opinion in Neurology, 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.

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

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

Primate Model Carrying LMNA Mutation Develops Dilated Cardiomyopathy.

Luo X et al.

Jacc. Basic to Translational Science, 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

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

A Study of Gene Expression, Structure, and Contractility of iPSC-Derived Cardiac Myocytes from a Family with Heart Disease due to LMNA Mutation.

Mehrabi M et al.

Annals of Biomedical Engineering, 2021

DNA methylation analysis reveals epimutation hotspots in patients with dilated cardiomyopathy-associated laminopathies.

Morival JLP et al.

Clinical Epigenetics, 2021

Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis.

Widyastuti HP et al.

Bmc Medical Genetics, 2020

The Effect of Cyclic Strain on Human Fibroblasts With Lamin A/C Mutations and Its Relation to Heart Disease.

Tran RDH et al.

Journal of Biomechanical Engineering, 2020

Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.

Cheng L et al.

International Journal of Genomics, 2020

Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.

Verdonschot JAJ et al.

Circulation. Heart Failure, 2018

30571196 (PubMed )
Supplement: circhf_circhf-2018-005220_supp1.pdf

Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.

Core JQ et al.

Plos One, 2017

Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

Zaragoza MV et al.

Plos One, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."