Genetic and functional analysis of YPEL3 and its link to disease

YPEL3 的遗传和功能分析及其与疾病的联系

• 批准号: 9070011
• 负责人: Monte Westerfield
• 金额: $ 19.58万
• 依托单位: UNIVERSITY OF OREGON
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-06-01 至 2017-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9070011
• 关键词: Alleles; Animal Model; Anterior; Antibodies; Apoptotic; Behavior; Biochemical; Biochemical Pathway; Biochemistry; Candidate Disease Gene; Cell Aging; Cell Culture Techniques; Cell Survival; Cells; Cellular biology; Cessation of life; Childhood; Clustered Regularly Interspaced Short Palindromic Repeats; Collaborations; Complex; Cornea; CpG Islands; DNA; DNA Damage; Diagnosis; Disease; Etiology; Eye; Eye Development; Family; Female; Functional disorder; Future; Genes; Genetic; Genotype; Growth; Human; Hypermethylation; Lead; Learning; Lesion; Link; Location; Modeling; Molecular; Molecular Profiling; Muscle hypotonia; Mutation; Myelogenous; Nature; Nerve; Neural Conduction; Normal Cell; Pathogenicity; Pathway interactions; Patients; Pattern; Peripheral Nerves; Phenotype; Physiological; Physiology; Process; Proteins; Rare Diseases; Regulation; Resolution; Response Elements; Retina; Reverse Transcriptase Polymerase Chain Reaction; Role; Sensory; Tachycardia; Techniques; Testing; Transgenes; Transgenic Organisms; Tumor Suppressor Proteins; United States National Institutes of Health; Variant; Zebrafish; base; design; expression vector; genetic variant; heart function; insight; loss of function; loss of function mutation; mRNA Expression; mutant; myelination; neoplastic cell; neuron development; novel; precursor cell; programs; promoter; public health relevance; research study; small hairpin RNA; transcriptome sequencing; visual motor

 DESCRIPTION (provided by applicant): This project will conduct functional studies in collaboration with the NIH Intramural Undiagnosed Diseases Program (NIH-UDP) to investigate the underlying genetics, biochemistry, cell biology, and pathophysiology of a novel disease that has been linked to a variant of the YPEL3 gene identified through the NIH-UDP.

 描述（由应用程序提供）：该项目将与NIH壁内未诊断的疾病计划（NIH-UDP）合作进行功能研究，以研究一种新型疾病的潜在遗传学，生物化学，细胞生物学和病理生理学，该疾病已与NIH-udp识别的YPEL3基因变体相关。