Associated Papers
Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomere.
Li C et al.
The Journal of Biological Chemistry, 2024
TCAP gene is not a common cause of cardiomyopathy in Iranian patients.
Alaei Z et al.
European Journal of Medical Research, 2023
Advances in Ion Channel, Non-Desmosomal Variants and Autophagic Mechanisms Implicated in Arrhythmogenic Cardiomyopathy.
Li K et al.
Current Issues in Molecular Biology, 2023
Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims.
Holmström L et al.
Scientific Reports, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Phosphorylation at Serines 157 and 161 Is Necessary for Preserving Cardiac Expression Level and Functions of Sarcomeric Z-Disc Protein Telethonin.
Lewis HR et al.
Frontiers in Physiology, 2021
Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Nav 1.5 currents in HEK-293 cells.
Turker I et al.
Pacing and Clinical Electrophysiology : Pace, 2020
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia.
Juang JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy.
Celestino-Soper PBS et al.
Scientific Reports, 2018
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
Molecular mechanisms in cardiomyopathy.
Dadson K et al.
Clinical Science (london, England : 1979), 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
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA et al.
Genome Biology, 2014
Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes.
Candasamy AJ et al.
The Journal of Biological Chemistry, 2014
Protein interactions in human genetic diseases.
Schuster-Böckler B et al.
Genome Biology, 2008
Molecular etiology and pathogenesis of hereditary cardiomyopathy.
Kimura A
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
Hayashi T et al.
Journal of the American College of Cardiology, 2004