三个意大利裔家族中患有肾性尿崩症的患者，其血管加压素V2受体基因突变情况。 - Suppr

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超能文献

Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.

作者信息

Faà V, Ventruto M L, Loche S, Bozzola M, Podda R, Cao A, Rosatelli M C

机构信息

Istituto di Clinica e Biologia dell'Età Evolutiva, Università degli Studi di Cagliari, Italy.

出版信息

Hum Mol Genet. 1994 Sep;3(9):1685-6. doi: 10.1093/hmg/3.9.1685.

DOI:10.1093/hmg/3.9.1685

PMID:7833930

Abstract

摘要

相似文献

Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.三个意大利裔家族中患有肾性尿崩症的患者，其血管加压素V2受体基因突变情况。

Hum Mol Genet. 1994 Sep;3(9):1685-6. doi: 10.1093/hmg/3.9.1685.

Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.X连锁肾性尿崩症患者血管加压素V2受体基因的新突变

Hum Mol Genet. 1994 Aug;3(8):1429-30. doi: 10.1093/hmg/3.8.1429.

A novel mutation in the vasopressin V2 receptor gene in a woman with congenital nephrogenic diabetes insipidus.一名患有先天性肾性尿崩症的女性患者，其血管加压素V2受体基因发生了一种新的突变。

Intern Med. 1999 Oct;38(10):808-12. doi: 10.2169/internalmedicine.38.808.

Vasopressin receptor mutations causing nephrogenic diabetes insipidus.导致肾性尿崩症的血管加压素受体突变。

Proc Assoc Am Physicians. 1998 Sep-Oct;110(5):387-94.

Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus.先天性肾性尿崩症患者血管加压素V2受体基因的两个新突变。

Biochem Biophys Res Commun. 1994 Nov 30;205(1):552-7. doi: 10.1006/bbrc.1994.2700.

Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.13个肾性尿崩症家族中V2受体基因突变的遗传情况。

Kidney Int. 1994 Jul;46(1):170-6. doi: 10.1038/ki.1994.256.

Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.血管加压素V2受体基因中的六个新突变导致肾性尿崩症。

Nephron. 1997;75(4):431-7. doi: 10.1159/000189581.

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus.十二个先天性肾性尿崩症家族中血管加压素V2受体和水通道蛋白-2基因的突变

Adv Exp Med Biol. 1998;449:387-90. doi: 10.1007/978-1-4615-4871-3_49.

Nephrogenic diabetes insipidus.肾性尿崩症

Semin Nephrol. 1994 Jul;14(4):349-56.

Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus.两个患有肾性尿崩症的家族中血管加压素V2受体基因的突变。

J Am Soc Nephrol. 1994 Aug;5(2):169-76. doi: 10.1681/ASN.V52169.

引用本文的文献

Valine-279 Deletion-Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis.精氨酸加压素受体2上的缬氨酸279缺失突变导致G蛋白结合位点受阻：一例临床肾性尿崩症病例及其亚分子致病分析。

Biomedicines. 2021 Mar 15;9(3):301. doi: 10.3390/biomedicines9030301.

Molecular Architecture of G Protein-Coupled Receptors.G蛋白偶联受体的分子结构

Drug Dev Res. 1996 Jan 1;37(1):1-38. doi: 10.1002/(SICI)1098-2299(199601)37:1<1::AID-DDR1>3.0.CO;2-S.

Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.X连锁肾性尿崩症患者中血管加压素2型受体的结合、细胞内转运和生物合成缺陷型突变体。

J Clin Invest. 1995 Oct;96(4):2043-50. doi: 10.1172/JCI118252.

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