显性遗传性尿崩症及其他内分泌病。
Dominant-negative diabetes insipidus and other endocrinopathies.
作者信息
Phillips John A
机构信息
Division of Medical Genetics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA.
出版信息
J Clin Invest. 2003 Dec;112(11):1641-3. doi: 10.1172/JCI20441.
Abstract
Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP precursors and progressive loss of AVP-producing neurons.
摘要
人类家族性神经垂体性尿崩症（FNDI）是一种常染色体显性疾病，由精氨酸加压素（AVP）前体中的多种突变引起。一项新报告展示了AVP突变的杂合性如何导致FNDI（见第1697页开始的相关文章）。该研究利用小鼠中的AVP基因敲入突变，表明FNDI是由AVP前体的潴留和分泌AVP的神经元的渐进性丧失所引起的。
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本文引用的文献
1
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons.常染色体显性遗传性神经垂体性尿崩症的小鼠模型显示，产生抗利尿激素的神经元逐渐丧失。
J Clin Invest. 2003 Dec;112(11):1697-706. doi: 10.1172/JCI18616.
2
Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.外显子定义的破坏产生一种显性负性生长激素异构体，其导致生长激素细胞死亡和Ⅱ型孤立性生长激素缺乏症。
Hum Genet. 2003 Jul;113(2):140-8. doi: 10.1007/s00439-003-0949-x. Epub 2003 Apr 29.
3
Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.常染色体显性遗传性生长激素缺乏症在体外以及转基因小鼠体内均会破坏分泌囊泡。
Endocrinology. 2003 Feb;144(2):720-31. doi: 10.1210/en.2002-220847.
4
Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting.参与尿崩症的血管加压素原激素突变会损害内质网输出，但不会影响分选。
J Biol Chem. 1999 Jul 23;274(30):21200-8. doi: 10.1074/jbc.274.30.21200.
5
Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.家族性生长激素缺乏症：影响单体蛋白的显性和隐性突变模型。
J Clin Endocrinol Metab. 1994 Nov;79(5):1261-5. doi: 10.1210/jcem.79.5.7962317.
6
Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.与家族性中枢性尿崩症相关的神经垂体素-II编码区的两个新突变。
J Clin Endocrinol Metab. 1995 Apr;80(4):1352-6. doi: 10.1210/jcem.80.4.7714110.
7
The mutant vasopressin gene from diabetes insipidus (Brattleboro) rats is transcribed but the message is not efficiently translated.来自尿崩症（布拉德福德）大鼠的突变加压素基因可被转录，但该信息无法有效翻译。
EMBO J. 1984 Dec 20;3(13):3289-93. doi: 10.1002/j.1460-2075.1984.tb02291.x.
8
Synthesis, transport, and release of posterior pituitary hormones.垂体后叶激素的合成、运输与释放。
Science. 1980 Jan 25;207(4429):373-8. doi: 10.1126/science.6153132.
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