Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E848G
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MYH7

NM_000257.4:p.E848G

Associated Papers

Harnessing induced pluripotent stem cells and organoids for disease modeling and precision medicine.

Lee CJ et al.

Stem Cell Research & Therapy, 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

Early Cytoskeletal Remodeling Drives Hypertrophic Cardiomyopathy Pathogenesis in MYH6/7 Mutant hiPSC-Derived Cardiomyocytes.

Shameem M et al.

Journal of Cardiovascular Development and Disease, 2025

Dilated cardiomyopathy: from genes and molecules to potential treatments.

Wang X et al.

Molecular and Cellular Biochemistry, 2025

Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.

Gerritse M et al.

Pharmacology & Therapeutics, 2025

Myosin modulator Aficamten inhibits force in cardiac muscle by altering myosin's biochemical activity without changing thick filament structure.

Mohran S et al.

Biorxiv : the Preprint Server for Biology, 2025

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy.

Hong Y et al.

World Journal of Cardiology, 2025

Long noncoding RNA VENTHEART is required for ventricular cardiomyocyte specification and function.

Yang Y et al.

Journal of Molecular and Cellular Cardiology, 2024

Investigating Inherited Heart Diseases Using Human Induced Pluripotent Stem Cell-Based Models.

Wang BX

Life (basel, Switzerland), 2024

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

Spudich JA et al.

The Embo Journal, 2024

Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.

Ribeiro M et al.

Human Cell, 2024

Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes.

Friedman CE et al.

Circulation. Genomic and Precision Medicine, 2024

Harnessing human genetics and stem cells for precision cardiovascular medicine.

Caudal A et al.

Cell Genomics, 2024

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8

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

Modeling Reduced Contractility and Stiffness Using iPSC-Derived Cardiomyocytes Generated From Female Becker Muscular Dystrophy Carrier.

Kameda S et al.

Jacc. Basic to Translational Science, 2023

37426526 (PubMed )
Supplement: mmc1.pdf

Cardiomyocyte Apoptosis Is Associated with Contractile Dysfunction in Stem Cell Model of MYH7 E848G Hypertrophic Cardiomyopathy.

Loiben AM et al.

International Journal of Molecular Sciences, 2023

Cardiomyocyte apoptosis contributes to contractile dysfunction in stem cell model of MYH7 E848G hypertrophic cardiomyopathy.

Loiben AM et al.

Biorxiv : the Preprint Server for Biology, 2023

Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.

Hsieh J et al.

Frontiers in Cell and Developmental Biology, 2022

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

My I et al.

Journal of Clinical Medicine, 2021

Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.

Jiang X et al.

Frontiers in Cell and Developmental Biology, 2021

Mutation-specific pathology and treatment of hypertrophic cardiomyopathy in patients, mouse models and human engineered heart tissue.

Wijnker PJM et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

Isogenic models of hypertrophic cardiomyopathy unveil differential phenotypes and mechanism-driven therapeutics.

Bhagwan JR et al.

Journal of Molecular and Cellular Cardiology, 2020

Modelling sarcomeric cardiomyopathies with human cardiomyocytes derived from induced pluripotent stem cells.

Sewanan LR et al.

The Journal of Physiology, 2020

Beyond Family: Modeling Non-hereditary Heart Diseases With Human Pluripotent Stem Cell-Derived Cardiomyocytes.

Martewicz S et al.

Frontiers in Physiology, 2020

32390874 (PubMed )
Supplement: Data_Sheet_1.PDF

Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

Brodehl A et al.

International Journal of Molecular Sciences, 2019

Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes-a systematic review.

Eschenhagen T et al.

Pflugers Archiv : European Journal of Physiology, 2019

Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells.

Yang KC et al.

Jacc. Basic to Translational Science, 2018

Modeling Human Dilated Cardiomyopathy Using Humans.

Gacita AM et al.

Jacc. Basic to Translational Science, 2018

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Alamo L et al.

Elife, 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

Isolation and Mechanical Measurements of Myofibrils from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Pioner JM et al.

Stem Cell Reports, 2016

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