THE SKELETAL DYSPLASIAS (PROJECT 2)

骨骼发育不良（项目 2）

• 批准号: 7952190
• 负责人: Deborah Krakow
• 金额: $ 0.47万
• 依托单位: LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-12-01 至 2009-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7952190
• 关键词: Candidate Disease Gene; Cartilage; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Disease; Family; Funding; Genes; Goals; Grant; Institution; Jeune syndrome; Pathway interactions; Perinatal; Research; Research Personnel; Resources; Short Rib-Polydactyly Syndrome; Source; United States National Institutes of Health; base; bone; genetic linkage analysis; novel; skeletal

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The goals of this project are to define the defective genes responsible for the short-rib polydactyly syndromes and asphyxiating thoracic dystrophy. These are autosomal recessive, primarily perinatal lethal disorders that are hypothesized to be either allelic or are shared components of a pathway. Using family based, linkage analysis studies, and then positional candidate gene approaches, this proposal will identify the disease genes for these disorders. Identification of these genes should help define a novel pathway which leads to abnormal cartilage and bone.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 该项目的目标是定义负责短核综合症和窒息性胸部营养不良的缺陷基因。 这些是常染色体隐性，主要是围产期致死性疾病，假设是等位基因或是途径的共享成分。 使用基于家庭的连锁分析研究，然后使用位置候选基因方法，该提案将确定这些疾病的疾病基因。 这些基因的鉴定应有助于定义一种新的途径，从而导致异常软骨和骨骼。