Varaico: Literature-Extracted Genetic Variants

Gene:ITGA9
Variant:p.D94A
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ITGA9

NM_002207.3:p.D94A

Associated Papers

Phosphorylation Mimetic of Myosin Regulatory Light Chain Mitigates Cardiomyopathy-Induced Myofilament Impairment in Mouse Models of RCM and DCM.

Kazmierczak K et al.

Life (basel, Switzerland), 2023

Hydroxychloroquine Mitigates Dilated Cardiomyopathy Phenotype in Transgenic D94A Mice.

Kanashiro-Takeuchi RM et al.

International Journal of Molecular Sciences, 2022

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

Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.

Kazmierczak K et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

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

Huang W et al.

Journal of Muscle Research and Cell Motility, 2015

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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."