RESISTANCE & HYPERSENSITIVITY TO THYROID HORMONE--EFFECTS OF TRIIODOTHYRONINE

反抗

• 批准号: 6304541
• 负责人: Samuel Refetoff
• 金额: $ 3.28万
• 依托单位: UNIVERSITY OF CHICAGO
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-12-01 至 2001-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6304541
• 关键词: clinical research; endocrine disorder; endocrine disorder diagnosis; family genetics; gene expression; gene mutation; hormone receptor; hormone sensitivity /resistance; human subject; receptor expression; thyroid hormones; triiodothyronine

Resistance and hypersensitivity to thyroid hormone (TH) are inherited defects. The former is associated with mutations in the TH receptor B gene and often results in growth retardation and mental disabilities. The cause of the latter is unknown. The aim of the project is to assess tissue responses to L-T3 in affected individuals, unaffected relatives and unrelated controls in order to better define these syndromes and standardize diagnostic procedures.

对甲状腺激素（TH）的抵抗和过敏是一种遗传性缺陷。前者与TH受体B基因突变有关，常导致生长迟缓和精神残疾。后者的原因尚不清楚。该项目的目的是评估受影响个体、未受影响亲属和不相关对照的组织对L-T3的反应，以便更好地定义这些综合征并标准化诊断程序。