Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients
β Scribed by C.-H. Chen; W.-Y. Chen; H.-L. Liu; T.-T. Liu; A.-P. Tsou; C.-Y. Lin; T. Chao; Y. Qi; K.-J. Hsiao
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 247 KB
- Volume
- 47
- Category
- Article
- ISSN
- 1435-232X
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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
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
Nephrogenic diabetes insipidus (NDI) is associated with germline mutations in two genes: vasopressin receptor type 2 (V2(R)) in X-linked NDI, and the water channel aquaporin-2, in autosomal-recessive disease. Genetic heterogeneity is further emphasized by reports of phenotypically abnormal individua