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PATHOGENESIS AND PATHOPHYSIOLOGY OF FAMILIAL NEUROHYPOPHYSEAL DIABETES

PATHOGENESIS AND PATHOPHYSIOLOGY OF FAMILIAL NEUROHYPOPHYSEAL DIABETES
家族性神经垂体糖尿病的发病机制和病理生理学
批准号：
6245171
负责人：
GARY L. ROBERTSON
金额：
$1.2万
依托单位：
NORTHWESTERN UNIVERSITY AT CHICAGO
依托单位国家：
美国
项目类别：
财政年份：
1997
资助国家：
美国
项目状态：
已结题
起止时间：
1997-07-15 至 1997-11-30
来源：
https://reporter.nih.gov/project-details/6245171
关键词：
clinical research cytotoxicity disease /disorder etiology family genetics gene mutation human subject molecular pathology nephrogenic diabetes insipidus neurons pathologic process

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英文摘要
This project is part of an ongoing study to define the pathogenesis and pathophysiology of the autosomal dominant form of familial neurohypophyseal diabetes insipidus (FNDI). In the last 4 years, we and others have determined that FNDI is linked to diverse mutations in the coding region of the gene for the polypeptide precursor (AVP-NPII). We postulate that FNDI is due to selective destruction of AVP-producing neurohypophyseal neurons by a mutant precursor that gradually accumulates and disrupts the cells because it cannot be processed properly.
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