Associated Papers
Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction.
Landim-Vieira M et al.
Circulation. Genomic and Precision Medicine, 2025
Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study.
Patsalis C et al.
American Journal of Medical Genetics. Part A, 2025
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants.
Norrish G et al.
Journal of Medical Genetics, 2024
Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.
Koutsofti C et al.
Genes, 2024
Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.
Chumakova OS et al.
Genes, 2023
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
Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.
Tikunova SB et al.
International Journal of Molecular Sciences, 2023
Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies.
Adolfsson E et al.
International Journal of Legal Medicine, 2023
Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.
Lenarduzzi S et al.
Molecular Genetics & Genomic Medicine, 2023
Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.
Zaffran S et al.
International Journal of Molecular Sciences, 2023
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D et al.
Science (new York, N.y.), 2022
Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.
Yang Z et al.
Reviews in Cardiovascular Medicine, 2022
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Sepp R et al.
Diagnostics (basel, Switzerland), 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
Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.
Keyt LK et al.
Frontiers in Cardiovascular Medicine, 2022
A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.
Reinoso TR et al.
Journal of Muscle Research and Cell Motility, 2021
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.
Cimiotti D et al.
International Journal of Molecular Sciences, 2021
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants.
Landim-Vieira M et al.
Frontiers in Physiology, 2019
Using high-resolution variant frequencies to empower clinical genome interpretation.
Whiffin N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Myosin Rod Hypophosphorylation and CB Kinetics in Papillary Muscles from a TnC-A8V KI Mouse Model.
Kawai M et al.
Biophysical Journal, 2017
Amide hydrogens reveal a temperature-dependent structural transition that enhances site-II Ca2+-binding affinity in a C-domain mutant of cardiac troponin C.
Veltri T et al.
Scientific Reports, 2017
Allosteric Transmission along a Loosely Structured Backbone Allows a Cardiac Troponin C Mutant to Function with Only One Ca2+ Ion.
Marques MA et al.
The Journal of Biological Chemistry, 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
Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.
Veltri T et al.
Frontiers in Physiology, 2017
Docking-based modeling of protein-protein interfaces for extensive structural and functional characterization of missense mutations.
Barradas-Bautista D et al.
Plos One, 2017
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B et al.
Plos One, 2017
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.
Ploski R et al.
American Journal of Medical Genetics. Part A, 2016
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.
Tšuiko O et al.
Human Reproduction (oxford, England), 2016
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Marston SB
Frontiers in Physiology, 2016
Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs.
Li MX et al.
Gene, 2015
The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q.
Robertson IM et al.
Journal of Molecular and Cellular Cardiology, 2015
Knock-in mice harboring a Ca(2+) desensitizing mutation in cardiac troponin C develop early onset dilated cardiomyopathy.
McConnell BK et al.
Frontiers in Physiology, 2015
Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.
Kalyva A et al.
Journal of Muscle Research and Cell Motility, 2014
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.
Parvatiyar MS et al.
The Journal of Biological Chemistry, 2012
Sarcomeric gene mutations in sudden infant death syndrome (SIDS).
Brion M et al.
Forensic Science International, 2012
Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.
Landstrom AP et al.
Current Molecular Medicine, 2012
Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.
Pinto JR et al.
The Journal of Biological Chemistry, 2011
Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.
Swindle N et al.
Biochemistry, 2010
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.
Hershberger RE et al.
Circulation. Cardiovascular Genetics, 2010
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
Landstrom AP et al.
Journal of Molecular and Cellular Cardiology, 2008