18 research outputs found
A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients
Computer-Assisted Interventions for Students with Autism Spectrum Disorders within School-Based Contexts: A Quantitative Meta-Analysis of Single-Subject Research
Molecular mechanisms of cardiomyopathy phenotypes associated with myosin light chain mutations
We discuss here the potential mechanisms of action associated with hypertrophic (HCM) or dilated (DCM) cardiomyopathy causing mutations in the myosin regulatory (RLC) and essential (ELC) light chains. Specifically, we focus on four HCM mutations: RLC-A13T, RLC-K104E, ELC-A57G and ELC-M173V, and one DCM RLC-D94A mutation shown by population studies to cause different cardiomyopathy phenotypes in humans. Our studies indicate that RLC and ELC mutations lead to heart disease through different mechanisms with RLC mutations triggering alterations of the secondary structure of the RLC which further affect the structure and function of the lever arm domain and impose changes in the cross bridge cycling rates and myosin force generation ability. The ELC mutations exert their detrimental effects through changes in the interaction of the N-terminus of ELC with actin altering the cross talk between the thick and thin filaments and ultimately resulting in an altered force-pCa relationship. We also discuss the effect of mutations on myosin light chain phosphorylation. Exogenous myosin light chain phosphorylation and/or pseudo-phosphorylation were explored as potential rescue tools to treat hypertrophy-related cardiac phenotypes
Wide area power system transient stability prediction incorporating dynamic capability curve and generator bus coherency
Mechanisms of Weight Loss, Diabetes Control and Changes in Food Choices After Gastrointestinal Surgery
Chromatin run-on and sequencing maps the transcriptional regulatory landscape of glioblastoma multiforme
Policy design without democracy? Making democratic sense of transition management
Long-term policy design, Sustainability, Energy, Democracy, Transition management, Legitimacy, Participation, Network governance, Representative, Accountability,