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Cardiomyopathy Genomes Project

心肌病基因组计划

基本信息

批准号：
10406096
负责人：
Elizabeth M McNally
金额：
$ 3.77万
依托单位：
NORTHWESTERN UNIVERSITY AT CHICAGO
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-09-08 至 2022-02-28
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10406096
关键词：
Actins Action Potentials Arrhythmia Autophagocytosis BCL2 gene Binding C-terminal CRISPR/Cas technology Cardiac Cardiac Myocytes Cardiomyopathies Cause of Death Cell Line Cell membrane Cell physiology Cells Code Cytoskeletal Proteins DNA Sequence Alteration Development Diagnosis Dilated Cardiomyopathy Dimerization Disease Electrophysiology (science)Etiology FLNC gene Family Genes Genetic Genome Grant Heart Heart Abnormalities Heart failure Homeostasis Impairment Inherited Injury Isoproterenol Lead Left Ventricular Ejection Fraction Left ventricular structure Link Mediating Molecular Molecular Chaperones Muscle Weakness Muscle function Mutate Mutation Myocardium Myopathy N-terminal Pathogenicity Pathway interactions Patients Pattern Persons Physiological Processes Play Positioning Attribute Property Proteasome Inhibitor Proteins Risk Rod Role Sarcolemma Sarcomeres Signal Pathway Signal Transduction Site Skeletal Muscle Stress Striated Muscles Structure Testing Ubiquitin Untranslated RNA Up-Regulation Variant Work Zebrafish blood pump cardioprotection citrate carrier connectin filamin handicapping condition heart dimension/size heart function heart rhythm improved induced pluripotent stem cell inherited cardiomyopathy misfolded protein multicatalytic endopeptidase complex mutant protein aggregation protein expression protein folding proteotoxicity response sudden cardiac death

项目摘要

R01 HL128075 GRANT SUMMARY: As a leading cause of death, heart failure has become a pivotal focal point and increasingly recognized as being under genetic influence. Having a greater understanding of the mechanisms underlying heart failure and cardiomyopathy will improve application of current treatments and stimulate the development of new treatments. Through this work, we are interrogating both coding and noncoding regions for their role in the genesis and progression of heart failure. This diversity supplement is examining mechanisms of FLNC (filamin C) related cardiomyopathy since mutations in FLNC cause cardiomyopathy associated with arrhythmia burden.

R01 HL128075 拨款摘要：作为死亡的主要原因，心力衰竭已成为关键焦点点并越来越多地被认为受到遗传影响。有了更深入的了解心力衰竭和心肌病的潜在机制将改善现有治疗方法的应用刺激新疗法的开发。通过这项工作，我们正在询问编码和非编码区在心力衰竭发生和进展中的作用。这种多样性补充是由于 FLNC 突变导致 FLNC（细丝蛋白 C）相关心肌病的机制研究心肌病与心律失常负担相关。