Associated Papers
Distinct mechanisms drive divergent phenotypes in hypertrophic and dilated cardiomyopathy-associated TPM1 variants.
Halder SS et al.
The Journal of Clinical Investigation, 2024
Molecular autopsy in Chinese sudden cardiac death in the young.
Kwok SY et al.
American Journal of Medical Genetics. Part A, 2024
Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.
Azimi A et al.
Esc Heart Failure, 2024
Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.
Earle NJ et al.
Circulation. Heart Failure, 2024
Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.
Koshy L et al.
The Indian Journal of Medical Research, 2023
Mechanisms of pathogenicity in the hypertrophic cardiomyopathy-associated TPM1 variant S215L.
Halder SS et al.
Pnas Nexus, 2023
Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.
Keyt LK et al.
Frontiers in Cardiovascular Medicine, 2022
Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament.
Mason AB et al.
Jci Insight, 2021
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.
Hassoun R et al.
International Journal of Molecular Sciences, 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Janin A et al.
Molecular Diagnosis & Therapy, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.
Moraczewska J
Journal of Muscle Research and Cell Motility, 2020
Cardiac Evaluation of Children With a Family History of Sudden Death.
Webster G et al.
Journal of the American College of Cardiology, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.
Alejandra Restrepo-Cordoba M et al.
Journal of Cardiovascular Translational Research, 2017
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Cecconi M et al.
International Journal of Molecular Medicine, 2016
Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy.
Bales ND et al.
Pediatric Cardiology, 2016
Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants.
Kraker J et al.
Frontiers in Physiology, 2016
Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM.
Selvi Rani D et al.
Dna and Cell Biology, 2015
Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.
Gupte TM et al.
The Journal of Biological Chemistry, 2015
A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium.
Bai F et al.
Journal of Muscle Research and Cell Motility, 2013
Alpha-tropomyosin mutations in inherited cardiomyopathies.
Redwood C et al.
Journal of Muscle Research and Cell Motility, 2013
Genetic variations of α-cardiac actin and cardiac muscle LIM protein in hypertrophic cardiomyopathy in South India.
Rangaraju A et al.
Experimental and Clinical Cardiology, 2012
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.
Chang B et al.
Molecular Genetics and Metabolism, 2011
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H et al.
The New England Journal of Medicine, 2008