Molecular Pathogenesis of the Cardiomyogenic Defects in LEOPARD Syndrome

LEOPARD 综合征心肌源性缺陷的分子发病机制

• 批准号: 7323256
• 负责人: Maria I Kontaridis
• 金额: $ 8.8万
• 依托单位: BETH ISRAEL DEACONESS MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-12-01 至 2008-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7323256
• 关键词: Affect; Alleles; Award; Binding; Biochemical; Biochemistry; C-terminal; Cardiac; Cardiac Myocytes; Cardiology; Cells; Clinical; Complex; Congenital Heart Defects; Data; Defect; Development; Developmental Biology; Developmental Process; Dilated Cardiomyopathy; Disease; Dominant-Negative Mutation; Embryo; Enzymes; Event; Face; Functional disorder; Gene Mutation; Genes; Genetic; Genitalia; Goals; Growth; Heart; Heart Diseases; Hypertrophic Cardiomyopathy; Institution; Knock-in Mouse; Knowledge; LEOPARD Syndrome; Lead; MAP Kinase Modules; Maps; Mediating; Mentors; Modeling; Molecular; Molecular Conformation; Multiple Lentigines; Mus; Mutate; Mutation; Myocardial; N-terminal; Noonan Syndrome; Orbital separation excessive; PTPN11 gene; Pathogenesis; Pathway interactions; Patients; Penetrance; Phase; Phenotype; Phosphoric Monoester Hydrolases; Phosphorylation Site; Phosphotransferases; Phosphotyrosine; Process; Proline; Protein Tyrosine Phosphatase; Proteins; Publishing; Pulmonary Valve Stenosis; Receptor Protein-Tyrosine Kinases; Regulation; Research; Research Personnel; Scientist; Sensorineural Hearing Loss; Signal Pathway; Signal Transduction; Signaling Molecule; Site; Skeletal system; Stenosis; Stretching; Syndrome; System; Tail; Testing; Training; Tyrosine Phosphorylation Site; Variant; Ventricular Septal Defects; Work; base; cardiogenesis; career; congenital heart disorder; gain of function; gain of function mutation; in vivo; interest; loss of function mutation; mutant; postnatal; programs; receptor; skills; src Homology Region 2 Domain; transcription factor