The property of a novel V2 receptor mutant in a patient with nephrogenic diabetes insipidus

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 1, 2001, Pages 381-385

  Inaba, S ^a   Hatakeyama, H ^a   Taniguchi, N ^a   Miyamori, I ^a  

^a UNIVERSITY OF FUKUI   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ARGIPRESSIN; CYCLIC AMP; CYSTEINE; SERINE; THIOL GROUP; VASOPRESSIN V2 RECEPTOR;

ADULT; ARTICLE; BINDING AFFINITY; CASE REPORT; DNA SEQUENCE; GENE MUTATION; HUMAN; LIGAND BINDING; MALE; MISSENSE MUTATION; NEPHROGENIC DIABETES INSIPIDUS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RECEPTOR AFFINITY;

EID: 0035140394     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.86.1.7165     Document Type: Article

References (24)

1. Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28
2. Nephrogenic diabetes insipidus: Close linkage with markers from the distal long arm of the human X chromosome
3. Molecular cloning of the receptor human antidiuretic hormone
4. Structure and chromosomal localization of the human antidiuretic hormone receptor gene
5. Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus
6. The effect of eight V2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin
7. A low affinity vasopressin V2 receptor gene in a kindred with X-linked nephrogenic diabetes insipidus
8. The binding site of neuropeptide vasopressin V1a receptor
9. High efficiency polyoma DNA transfection of chloroquine-treated cells
10. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus
11. Mutation in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus
12. Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus
13. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
14. X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis
15. A molecular defect in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus
16. Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus
17. An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system
18. Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus
19. Molecular cloning and expression of a rat V1a arginine vasopressin receptor
20. Structure and expression of a human oxytocin receptor
21. Expression studies of two vasopressin V2 receptor gene mutations R202C and 804insG in nephrogenic diabetes insipidus
22. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes
23. Properties of the human arginine vasopressin V2 receptor after site-directed mutagenesis of its putative palmitoylation site
24. Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus