KELOID FORMATION

瘢痕疙瘩形成

• 批准号: 7377333
• 负责人: ERNST J REICHENBERGER
• 金额: $ 2.89万
• 依托单位: UNIVERSITY OF CONNECTICUT SCH OF MED/DNT
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-01 至 2007-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7377333
• 关键词: KELOID; FORMATION

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 long-term goal of this study is to understand the molecular mechanisms of neoformation of dermal tissue in fibrotic diseases. To achieve this goal we study hereditary keloid formation. Keloids are benign tumors of the skin or cornea caused by overactivity of fibroblasts during abnormal wound repair. The relatively large number of familial cases of keloid formation makes it possible to propose a genetic approach for the identification of a gene responsible for increased cell proliferation and extracellular matrix expression. We perform genome wide screening and linkage analysis of suitably large families afflicted with the autosomal dominant form of hereditary keloid formation. Subsequently we identify and analyze the chromosomal loci. We have identified possible disease gene loci and are now in the process of establishing high resolution maps of the keloid loci. Additional families need to be identified and recruited to verify and further characterize the loci. These families will be tested for co-localization. Suitable families that do not co-localize to an existing locus will be used for genome wide screening.

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。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。列出的机构适用于该中心，这不一定是调查员的机构。这项研究的长期目标是了解纤维化疾病中真皮组织新形成的分子机制。为了实现这一目标，我们研究遗传性循环形成。酮是因缠绕在异常伤口修复过程中成纤维细胞过度活动而引起的皮肤或角膜的良性肿瘤。相对较大的家族性乳突形成病例使得提出一种遗传方法，以鉴定负责增加细胞增殖和细胞外基质表达的基因。我们对患有遗传性乳子状形成常染色体显性形式的适当家庭进行基因组广泛的筛查和连锁分析。随后，我们识别和分析染色体位点。我们已经确定了可能的疾病基因座，现在正处于建立高分辨率图的过程中。需要确定和招募其他家庭以验证和进一步描述该基因座。这些家族将进行共定位测试。未共定位到现有基因座的合适家庭将用于宽基因组筛查。