✦ LIBER ✦

Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus

✍ Scribed by Tsukaguchi, Hiroyasu; Matsubara, Hiroaki; Inada, Mitsuo

Book ID: 109884136
Publisher: Nature Publishing Group
Year: 1995
Tongue: English
Weight: 988 KB
Volume: 48
Category: Article
ISSN: 0085-2538
DOI: 10.1038/ki.1995.327

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the vasopressin V2 receptor

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

✍ Eliezer J. Holtzman; Lee F. Kolakowski; Ossie Geifman-Holtzman; David G. O'Brien 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 106 KB

Mutations in the V2 vasopressin receptor

Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

✍ Pan, Yang; Metzenberg, Aida; Das, Soma; Jing, Biqi; Gitschier, Jane 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 367 KB

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

Inheritance of mutations in the V2 recep

Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus

✍ Knoers, Nine V A M; van den Ouweland, Ans M W; Verdijk, Marian; Monnens, Leo A H 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 444 KB

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