Varaico: Literature-Extracted Genetic Variants

Gene:MYL12A
Variant:p.R5*
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MYL12A

NM_006471.4:p.R5*

Associated Papers

Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.

Sitbon YH et al.

Journal of Muscle Research and Cell Motility, 2020

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

Cardiac contractility, motor function, and cross-bridge kinetics in N47K-RLC mutant mice.

Wang L et al.

The Febs Journal, 2017

Molecular mechanisms of cardiomyopathy phenotypes associated with myosin light chain mutations.

Huang W et al.

Journal of Muscle Research and Cell Motility, 2015

Understanding cardiomyopathy phenotypes based on the functional impact of mutations in the myosin motor.

Moore JR et al.

Circulation Research, 2012

Myosin regulatory light chain mutation found in hypertrophic cardiomyopathy patients increases isometric force production in transgenic mice.

Kazmierczak K et al.

The Biochemical Journal, 2012

Prolonged Ca2+ and force transients in myosin RLC transgenic mouse fibers expressing malignant and benign FHC mutations.

Wang Y et al.

Journal of Molecular Biology, 2006

The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.

Szczesna-Cordary D et al.

Journal of Cell Science, 2005

Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.

Szczesna-Cordary D et al.

The Journal of Biological Chemistry, 2004

Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy.

Roopnarine O

Biophysical Journal, 2003

Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.

Szczesna D et al.

The Journal of Biological Chemistry, 2001

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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."