Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R403Q
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MYH7

NM_000257.4:p.R403Q

Associated Papers

Redox Imbalance and Genetic Mutations in Heart Failure: Synergistic Mechanisms and Therapeutic Strategies.

Balakrishnan VK et al.

Genes, 2026

Gene-based Therapies for Genetic Cardiomyopathies: Molecular Medicine for Heart Disease.

Sharma S et al.

The Canadian Journal of Cardiology, 2026

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

Dolder RE et al.

Circulation. Genomic and Precision Medicine, 2026

Generation of a PKP2 heterozygous knockout pig model of arrhythmogenic cardiomyopathy.

Li HH et al.

Zoological Research, 2026

Deep-learning analysis of 3D microarchitectural remodeling in hypertrophic cardiomyopathy.

Wei EQ et al.

Science (new York, N.y.), 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

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.

Jeong HE et al.

Scientific Reports, 2025

41469780 (PubMed )
Supplement: 41598_2025_33901_MOESM8_ESM.xlsx › TableS1

Tiny genome with big impact: mitochondrial DNA in cardiovascular health.

Yang Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.

Teresi L et al.

Biomedicines, 2025

Precision Medicine in Cardiomyopathy: Advances and Future Directions.

Mehdi M et al.

Clinical Genetics, 2025

Molecular mechanisms of altered contraction with the β-myosin R403Q mutation in porcine ventricular muscle and a human stem cell-derived cardiomyocyte model.

Steczina S et al.

Journal of Molecular and Cellular Cardiology, 2025

Signaling pathway alterations in hearts of a porcine model harboring a β-myosin heavy chain (MYH7-R403Q) gene variant.

Warren CM et al.

Journal of Molecular and Cellular Cardiology Plus, 2025

Myosin motor dynamics and cardiac function: Insights from in vivo small-angle X-ray scattering and pressure-volume analysis.

Pearson JT et al.

The Journal of Physiology, 2025

Hypertrophic cardiomyopathy management: a systematic review of the clinical practice guidelines and recommendations.

Sanghvi MM et al.

European Heart Journal. Quality of Care & Clinical Outcomes, 2025

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Urtis M et al.

Genes, 2025

41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf

Clustered Regularly Interspaced Short Palindromic Repeats Genome Editing for Cardiovascular Disease: The Future Is Here.

Sami N et al.

Cardiology in Review, 2025

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

Tailored therapeutics for cardiomyopathies.

Bakalakos A et al.

Nature Reviews. Cardiology, 2025

A New Era in the Management of Hypertrophic Cardiomyopathy.

Perez-Asensio A et al.

Reviews in Cardiovascular Medicine, 2025

Current and emerging medical and surgical therapy in hypertrophic cardiomyopathy.

Kim KA et al.

Journal of Cardiovascular Imaging, 2025

Cardiac Myosin Inhibitors in Hypertrophic Cardiomyopathy: From Sarcomere to Clinic.

Nakamura K et al.

International Journal of Molecular Sciences, 2025

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Suzuki T et al.

Journal of the American Heart Association, 2025

40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list

Molecular mechanisms of altered contraction with the β-myosin R403Q mutation in porcine ventricular muscle and a human stem cell-derived cardiomyocyte model.

Steczina S et al.

Biorxiv : the Preprint Server for Biology, 2025

Hypertrophic Cardiomyopathy: Current Perspectives.

Patel D et al.

Reviews in Cardiovascular Medicine, 2025

Hypertrophic cardiomyopathy.

Argirò A et al.

Nature Reviews. Disease Primers, 2025

Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.

Gerritse M et al.

Pharmacology & Therapeutics, 2025

From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of Cardiomyopathies.

Garcia-Ruano AB et al.

Journal of Cardiovascular Development and Disease, 2025

Regulatory T cells attenuate chronic inflammation and cardiac fibrosis in hypertrophic cardiomyopathy.

Wang YJ et al.

Science Translational Medicine, 2025

Heterozygous MYH7 R403Q mutation impairs left atrial mitochondrial function in a Yucatan mini-pig model of genetic nonobstructive hypertrophic cardiomyopathy.

Krause AA et al.

Journal of Applied Physiology (bethesda, Md. : 1985), 2025

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors.

Miller EM et al.

Journal of Genetic Counseling, 2025

Epistasis regulates genetic control of cardiac hypertrophy.

Wang Q et al.

Nature Cardiovascular Research, 2025

A Narrative Review of Current and Investigational Therapies in Hypertrophic Cardiomyopathy.

Ogurek I et al.

Biomedicines, 2025

Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.

Temena MA et al.

Scientific Reports, 2025

40369053 (PubMed )
Supplement: 41598_2025_1007_MOESM1_ESM.xlsx › Table_2C

Probing relaxed myosin states in hypertrophic cardiomyopathy by second harmonic-generation microscopy.

Arecchi G et al.

Biorxiv : the Preprint Server for Biology, 2025

Deciphering epistatic genetic regulation of cardiac hypertrophy.

Wang Q et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Microvillus inclusion disease-causing MYO5B point mutations exert differential effects on motor function.

Bowman DM et al.

The Journal of Biological Chemistry, 2025

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

Hypertrophic Cardiomyopathy Through the Lens of Mitochondria.

Kirichenko TV et al.

Biomedicines, 2025

Advances in the study and treatment of genetic cardiomyopathies.

Parikh VN et al.

Cell, 2025

The Future of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas9 Gene Therapy in Cardiomyopathies: A Review of Its Therapeutic Potential and Emerging Applications.

Moradi A et al.

Cureus, 2025

Clinical Features and Prospective Outcomes of Thin-Filament Hypertrophic Cardiomyopathy: Intrinsic Data and Comparative Insights from Other Cohorts.

Chumakova OS et al.

Journal of Clinical Medicine, 2025

39941537 (PubMed )
Supplement: jcm-14-00866-s001.zip › jcm-3425548-supplementary.pdf

Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy.

Hong Y et al.

World Journal of Cardiology, 2025

Mechanisms of pathogenicity in the hypertrophic cardiomyopathy-associated TNNI3 c.235C > T variant.

Zhang L et al.

International Journal of Cardiology, 2025

Hypertrophic cardiomyopathy: insights into pathophysiology and novel therapeutic strategies from clinical studies.

Olalekan SO et al.

The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2025

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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."