Cardiomyopathy Genomes Project

心肌病基因组计划

• 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
• 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

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赠款摘要：作为死亡的主要原因，心力衰竭已成为关键局灶 点，越来越多地被认为是遗传影响。对 心力衰竭和心肌病的机制将改善当前治疗的应用和 刺激新疗法的发展。通过这项工作，我们正在询问编码和 非编码区域在心力衰竭的起源和进展中的作用。这种多样性补充是 检查FLNC（Filamin C）相关心肌病的机制，因为FLNC中的突变原因 与心律不齐相关的心肌病。