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Vasopressin Receptor Mutations and Nephrogenic Diabetes Insipidus

✍ Scribed by Mariel Birnbaumer


Book ID
114180232
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
267 KB
Volume
30
Category
Article
ISSN
0188-4409

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Vasopressin Receptor Mutations and Nephr
✍ Mariel Birnbaumer πŸ“‚ Article πŸ“… 1999 πŸ› Elsevier Science 🌐 English βš– 267 KB

X-linked recessive nephrogenic diabetes insipidus is caused by mutations in the gene encoding the V2 vasopressin receptor (V2R), the mediator of the antidiuretic effect of arginine vasopressin (AVP) in mammalian kidneys. Upon binding to AVP, the receptor activates the G protein G s , stimulating a p

C112R, W323S, N317K mutations in the vas
✍ Csaba Szalai; Dimitra Triga; Antal Czinner πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 24 KB πŸ‘ 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