Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.P710R
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MYH7

NM_000257.4:p.P710R

Associated Papers

Cryo-ET reveals nanoscale thick filament disorganization in MYH7 P710R hypertrophic cardiomyopathy cardiomyocytes.

Zaoralová M et al.

Biorxiv : the Preprint Server for Biology, 2026

High-Throughput Methods for Variant Functional Assessment in Cardiac Disease.

Dolder RE et al.

Circulation. Genomic and Precision Medicine, 2026

Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.

van der Wilt CN et al.

European Heart Journal Open, 2026

Hypertrophic cardiomyopathy mutations Y115H and E497D disrupt the folded-back state of human β-cardiac myosin allosterically.

Nandwani N et al.

Nature Communications, 2025

Understanding hypertrophic cardiomyopathy and its regulation by myosin drugs.

Halder R et al.

Protein Science : a Publication of the Protein Society, 2025

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

A FRET assay to quantitate levels of the human β-cardiac myosin interacting heads motif based on its near-atomic resolution structure.

Goluguri RR et al.

Biorxiv : the Preprint Server for Biology, 2024

Reassessing the unifying hypothesis for hypercontractility caused by myosin mutations in hypertrophic cardiomyopathy.

Spudich JA et al.

The Embo Journal, 2024

Myosin-Catalyzed ATP Hydrolysis in the Presence of Disease-Causing Mutations: Mavacamten as a Way to Repair Mechanism.

Chakraborti A et al.

The Journal of Physical Chemistry. B, 2024

Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.

Lee S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity.

Buvoli M et al.

The Journal of Clinical Investigation, 2024

Hypertrophic cardiomyopathy mutations Y115H and E497D disrupt the folded-back state of human beta-cardiac myosin allosterically.

Nandwani N et al.

Biorxiv : the Preprint Server for Biology, 2024

Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.

Liu C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

Enhanced myofilament calcium sensitivity aggravates abnormal calcium handling and diastolic dysfunction in patient-specific induced pluripotent stem cell-derived cardiomyocytes with MYH7 mutation.

Guo G et al.

Cell Calcium, 2024

Mechanical Resistance to Micro-Heart Tissue Contractility unveils early Structural and Functional Pathology in iPSC Models of Hypertrophic Cardiomyopathy.

Guo J et al.

Biorxiv : the Preprint Server for Biology, 2023

Homologous mutations in β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.

Liu C et al.

Biorxiv : the Preprint Server for Biology, 2023

Multi-scale models reveal hypertrophic cardiomyopathy MYH7 G256E mutation drives hypercontractility and elevated mitochondrial respiration.

Lee S et al.

Biorxiv : the Preprint Server for Biology, 2023

Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Grinzato A et al.

Biorxiv : the Preprint Server for Biology, 2023

Targeting lipid metabolism as a new therapeutic strategy for inherited cardiomyopathies.

Gaar-Humphreys KR et al.

Frontiers in Cardiovascular Medicine, 2023

The mechanics of the heart: zooming in on hypertrophic cardiomyopathy and cMyBP-C.

Suay-Corredera C et al.

Febs Letters, 2022

Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Kawana M et al.

Frontiers in Physiology, 2022

Hypertrophic cardiomyopathy β-cardiac myosin mutation (P710R) leads to hypercontractility by disrupting super relaxed state.

Vander Roest AS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.

Vera CD et al.

The Journal of Biological Chemistry, 2019

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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."