Associated Papers
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Reduced Expression of MTSS1 Increases Sarcomere Number and Improves Contractility in Select Forms of Monogenic DCM.
Kleppe H et al.
Jacc. Basic to Translational Science, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Evaluation of GFM1 mutations pathogenicity through in silico tools, RNA sequencing and mitophagy pahtway in GFM1 knockout cells.
Ahmad B et al.
International Journal of Biological Macromolecules, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.
Zaklyazminskaya EV et al.
International Journal of Molecular Sciences, 2024
Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.
Hirono K et al.
Journal of the American Heart Association, 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
Sex-Specific Effect of MTSS1 Downregulation on Dilated Cardiomyopathy.
Choe D et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Harnessing human genetics and stem cells for precision cardiovascular medicine.
Caudal A et al.
Cell Genomics, 2024
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.
Kim Y et al.
Circulation. Genomic and Precision Medicine, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
van der Meulen MH et al.
Circulation. Genomic and Precision Medicine, 2022
Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy.
Perea-Gil I et al.
European Heart Journal, 2022
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Kurzlechner LM et al.
Journal of Personalized Medicine, 2022
Association of Titin Variations With Late-Onset Dilated Cardiomyopathy.
Cannatà A et al.
Jama Cardiology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review.
Man Y et al.
Medicine, 2022
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS et al.
Journal of the American Heart Association, 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
Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament.
Mason AB et al.
Jci Insight, 2021
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.
Hassoun R et al.
International Journal of Molecular Sciences, 2021
Clinical utility of genetic testing in patients with dilated cardiomyopathy.
Peña-Peña ML et al.
Medicina Clinica, 2021
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.
Puckelwartz MJ et al.
Journal of the American Heart Association, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Dilated cardiomyopathy mutations in thin-filament regulatory proteins reduce contractility, suppress systolic Ca2+, and activate NFAT and Akt signaling.
Robinson P et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2020
Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.
Moraczewska J
Journal of Muscle Research and Cell Motility, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Cardiomyopathy Mutation Alters End-to-End Junction of Tropomyosin and Reduces Calcium Sensitivity.
Sundar S et al.
Biophysical Journal, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy.
Marston S
International Journal of Molecular Sciences, 2018
Clinically Divergent Mutation Effects on the Structure and Function of the Human Cardiac Tropomyosin Overlap.
McConnell M et al.
Biochemistry, 2017
The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy.
Lynn ML et al.
Journal of Molecular and Cellular Cardiology, 2017
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y et al.
Genome Medicine, 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
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Marston SB
Frontiers in Physiology, 2016
Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.
Gupte TM et al.
The Journal of Biological Chemistry, 2015
Energy landscapes reveal the myopathic effects of tropomyosin mutations.
Orzechowski M et al.
Archives of Biochemistry and Biophysics, 2014
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
Golbus JR et al.
Circulation. Cardiovascular Genetics, 2014