✦ LIBER ✦

Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus

✍ Scribed by Eliezer J. Holtzman; Lee F. Kolakowski; Ossie Geifman-Holtzman; David G. O'Brien; Majid Rasoulpour; Ann P. Guillot; Dennis A. Ausiello

Publisher: Springer
Year: 1995
Tongue: English
Weight: 106 KB
Volume: 9
Category: Article
ISSN: 0931-041X
DOI: 10.1007/bf00868732

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

C112R, W323S, N317K mutations in the vas

C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus

✍ Csaba Szalai; Dimitra Triga; Antal Czinner 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 1 views

Nephrogenic diabetes insipidus (NDI) is a rare, mostly X-linked recessive disorder characterized by renal tubular resistance to the antidiuretic effect of arginine vasopressin. The gene responsible for the X-linked NDI, the G-protein-coupled vasopressin V2 receptor, has been localized on the Xq28 re

Two novel mutations in the aquaporin-2 a

Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus

✍ Alexander Oksche; Andreas Möller; John Dickson; Werner Rosendahl; Wolfgang Rasch 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 40 KB

Identification of mutations in the argin

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients

✍ C.-H. Chen; W.-Y. Chen; H.-L. Liu; T.-T. Liu; A.-P. Tsou; C.-Y. Lin; T. Chao; Y. 📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 247 KB

V2 vasopressin receptor dysfunction in n

V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms

✍ Torsten Schöneberg; Angela Schulz; Heike Biebermann; Anette Grüters; Torsten Gri 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 603 KB

Communicated by

Compound deletion of the rhoGAP C1 and V

Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus

✍ Torsten Schöneberg; Katharina Pasel; Volker von Baehr; Angela Schulz; Hans-Diete 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 487 KB 👁 2 views

The function of small GTPases is fine-tuned by a complex network of regulatory proteins such as GTPase-activating proteins. The C1 gene at Xq28 encodes a protein assumed to function as a Rho GTPase-activating protein (rhoGAP). Characterization of the molecular defect causing X-linked nephrogenic dia

Clinical phenotype of nephrogenic diabet

Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation

✍ Angenita F. Lieburg; Marian A. J. Verdijk; Frans Schoute; Marjolijn J. L. Ligten 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 719 KB