|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.
|
24944815 |
2014 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
|
19585583 |
2009 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.
|
19701945 |
2009 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
|
16845277 |
2006 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
|
16361827 |
2005 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
|
16120822 |
2005 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
|
15509592 |
2004 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.
|
12050236 |
2002 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
|
12191971 |
2002 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.
|
9745427 |
1998 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus.
|
9550615 |
1998 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.
|
9649557 |
1998 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.
|
9048343 |
1997 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
|
9402087 |
1997 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.
|
9302264 |
1997 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.
|
8882880 |
1996 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.
|
8140421 |
1994 |
|
Nephrogenic Diabetes Insipidus, Type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
|
7524315 |
1994 |