|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
|
16845277 |
2006 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
|
11916004 |
2002 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
BEFREE |
To date, only three AVPR2 mutations (P322S, D85N, and G201D) have been associated with a mild NDI phenotype, and intrafamilial phenotype variability has not been reported in affected males.
|
11920339 |
2002 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus.
|
11232028 |
2001 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
By screening NDI patients for mutations within the AVPR2 gene we have identified three novel (I46K, F105V, I130F) and four recurrent (D85N, R106C, R113W, Q225X) mutations.
|
10770218 |
2000 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.
|
11026555 |
2000 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.
|
9452109 |
1998 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online.
|
10694923 |
1998 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
|
9711877 |
1998 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
|
7560098 |
1995 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.
|
7987330 |
1994 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
|
8078903 |
1994 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
|
7833930 |
1994 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
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.
|
7984150 |
1994 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
|
8037205 |
1994 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus.
|
8045948 |
1994 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.
|
8514744 |
1993 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.
|
8479490 |
1993 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
|
8267567 |
1993 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
|
1303257 |
1992 |
|
Nephrogenic Diabetes Insipidus, Type I
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.
|
1303271 |
1992 |