Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
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An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complexBinding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidusMolecular evolution of the neuropeptide S receptorIdentification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidusImmunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genesTargeted inactivation of EGF receptor inhibits renal collecting duct development and function.Functional characterization of vasopressin type 2 receptor substitutions (R137H/C/L) leading to nephrogenic diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis: implications for treatments.X-Linked Recessive form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy.A Rare Case of Congenital Diabetes Insipidus.Functional rescue of mutant V2 vasopressin receptors causing nephrogenic diabetes insipidus by a co-expressed receptor polypeptide.Pediatric disorders of water balance.Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus.A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone.A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutationsCharacterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V)Molecular recognition of peptide and non-peptide ligands by the extracellular domains of neurohypophysial hormone receptors.Pediatric disorders of water balance.
P2860
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P2860
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
@ast
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
@en
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
@nl
type
label
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
@ast
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
@en
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
@nl
prefLabel
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
@ast
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
@en
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
@nl
P2093
P2860
P1476
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
@en
P2093
D G Bichet
M Birnbaumer
M F Arthus
M Lonergan
P Giampietro
S Simonetti
W Rosenthal
P2860
P304
P407
P577
1994-08-01T00:00:00Z