Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene
about
An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complexTreatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amilorideDiabetes insipidus in mice with a mutation in aquaporin-2.Single amino acid substitution in aquaporin 11 causes renal failureNephrogenic diabetes insipidus in mice caused by deleting COOH-terminal tail of aquaporin-2.Molecular developments in renal tubulopathiesWater channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing.Analysis of a novel AVPR2 mutation in a family with nephrogenic diabetes insipidus.Aquaporin water channels: atomic structure molecular dynamics meet clinical medicine.Advances in endocrinologyAquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidusNephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.AKAP220 manages apical actin networks that coordinate aquaporin-2 location and renal water reabsorption.Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy.Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality.Molecular mechanisms regulating aquaporin-2 in kidney collecting duct.The expression of aquaporin-1 in the medulla of the kidney is dependent on the transcription factor associated with hypertonicity, TonEBP.An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.
P2860
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P2860
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
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1994年の論文
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1994年学术文章
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1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
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1994年學術文章
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name
Patients with autosomal nephro ...... aquaporin 2 water-channel gene
@ast
Patients with autosomal nephro ...... aquaporin 2 water-channel gene
@en
Patients with autosomal nephro ...... aquaporin 2 water-channel gene
@nl
type
label
Patients with autosomal nephro ...... aquaporin 2 water-channel gene
@ast
Patients with autosomal nephro ...... aquaporin 2 water-channel gene
@en
Patients with autosomal nephro ...... aquaporin 2 water-channel gene
@nl
prefLabel
Patients with autosomal nephro ...... aquaporin 2 water-channel gene
@ast
Patients with autosomal nephro ...... aquaporin 2 water-channel gene
@en
Patients with autosomal nephro ...... aquaporin 2 water-channel gene
@nl
P2093
P2860
P1476
Patients with autosomal nephro ...... aquaporin 2 water-channel gene
@en
P2093
A F van Lieburg
A J van Essen
B A van Oost
C H van Os
L A Monnens
M A Verdijk
R Mallmann
V V Knoers
W Proesmans
P2860
P304
P407
P577
1994-10-01T00:00:00Z