An Electromechanical Model-Based Study on the Dosage Effects of Ranolazine in Treating Failing HCM Cardiomyocyte

Hypertrophic Cardiomyopathy (HCM) is a common inherited heart disease, affecting approximately 1 in 500 people globally. The primary characteristic of HCM is asymmetric hypertrophy of the myocardium. In its early stages, it may manifest as hyperdynamic contraction of the left ventricle (LV). However, as the disease progresses, patients may develop ...

Defining the Variant-Phenotype Correlation in Patients Affected by Noonan Syndrome with the RAF1:c.770C>T p.(Ser257Leu) Variant

Phenotypic Correlation Study of RAF1:c.770C>T p.(Ser257Leu) Variant in Noonan Syndrome Patients Academic Background Noonan syndrome (NS) is one of the most common RASopathies, primarily caused by the upregulation of RAS protein and mitogen-activated protein kinase (MAPK) signaling pathways. These disorders are characterized by facial dysmorphism, c...