Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
TCAP gene is not a common cause of cardiomyopathy in Iranian patients.
Alaei Z et al.
European Journal of Medical Research, 2023
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 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
Molecular mechanisms in cardiomyopathy.
Dadson K et al.
Clinical Science (london, England : 1979), 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
A rare case of persistent troponin elevation in a patient with chronic heart failure.
Cardoso G et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2013
Sarcomeric proteins and inherited cardiomyopathies.
Morimoto S
Cardiovascular Research, 2008
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
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
Bos JM et al.
Molecular Genetics and Metabolism, 2006
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
Hayashi T et al.
Journal of the American College of Cardiology, 2004