Varaico: Literature-Extracted Genetic Variants

Gene:MYL3
Variant:p.A19A
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MYL3

NM_000258.3:p.A19A

Associated Papers

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

40306862 (PubMed )
Supplement: mmc2.xlsx › Data_extraction

Exploring the Connection Between Relaxed Myosin States and the Anrep Effect.

Sequeira V et al.

Circulation Research, 2024

Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.

Yampolskaya DS et al.

Biochemistry. Biokhimiia, 2022

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Kurzlechner LM et al.

Journal of Personalized Medicine, 2022

35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › MYL3

Cardiomyopathic mutations in essential light chain reveal mechanisms regulating the super relaxed state of myosin.

Sitbon YH et al.

The Journal of General Physiology, 2021

Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

My I et al.

Journal of Clinical Medicine, 2021

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Tadros R et al.

Nature Genetics, 2021

33495596 (PubMed )
Supplement: EMS114661-supplement-Supplementary_Tables.xlsx › ST2

Ablation of the N terminus of cardiac essential light chain promotes the super-relaxed state of myosin and counteracts hypercontractility in hypertrophic cardiomyopathy mutant mice.

Sitbon YH et al.

The Febs Journal, 2020

Modeling Hypertrophic Cardiomyopathy: Mechanistic Insights and Pharmacological Intervention.

Mosqueira D et al.

Trends in Molecular Medicine, 2019

Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Yadav S et al.

Pflugers Archiv : European Journal of Physiology, 2019

Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.

Ma N et al.

Circulation, 2018

Essential Light Chains of Myosin and Their Role in Functioning of the Myosin Motor.

Logvinova DS et al.

Biochemistry. Biokhimiia, 2018

Single cardiac ventricular myosins are autonomous motors.

Wang Y et al.

Open Biology, 2018

Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.

Broendberg AK et al.

European Journal of Human Genetics : Ejhg, 2018

29343803 (PubMed )
Supplement: 41431_2017_60_MOESM1_ESM.docx

A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.

Rani DS et al.

Cardiology, 2018

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

A Cardiomyopathy Mutation in the Myosin Essential Light Chain Alters Actomyosin Structure.

Guhathakurta P et al.

Biophysical Journal, 2017

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B

Proteomic analysis of physiological versus pathological cardiac remodeling in animal models expressing mutations in myosin essential light chains.

Gomes AV et al.

Journal of Muscle Research and Cell Motility, 2015

Molecular mechanism regulating myosin and cardiac functions by ELC.

Lossie J et al.

Biochemical and Biophysical Research Communications, 2014

Remodeling of the heart in hypertrophy in animal models with myosin essential light chain mutations.

Kazmierczak K et al.

Frontiers in Physiology, 2014

Discrete effects of A57G-myosin essential light chain mutation associated with familial hypertrophic cardiomyopathy.

Kazmierczak K et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2013

Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.

Lossie J et al.

Cardiovascular Research, 2012

A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.

Andersen PS et al.

Biochemistry Research International, 2012

Structural and functional aspects of the myosin essential light chain in cardiac muscle contraction.

Muthu P et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011

In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Harris SP et al.

Circulation Research, 2011

Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.

Choi JO et al.

Clinical Cardiology, 2010

Myosin essential light chain in health and disease.

Hernandez OM et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2007

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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."