AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance
about
Involvement of the V2 vasopressin receptor in adaptation to limited water supplyA large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.Altered agonist sensitivity of a mutant v2 receptor suggests a novel therapeutic strategy for nephrogenic diabetes insipidus.Long-term outcomes in a family with nephrogenic syndrome of inappropriate antidiuresisMinireview: Toward the establishment of a link between melatonin and glucose homeostasis: association of melatonin MT2 receptor variants with type 2 diabetes.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.Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.Conserved syntenic clusters of protein coding genes are missing in birds.Novel mutation in the AVPR2 gene in a Danish male with nephrogenic diabetes insipidus caused by ER retention and subsequent lysosomal degradation of the mutant receptor.Novel autosomal recessive gene mutations in aquaporin-2 in two Chinese congenital nephrogenic diabetes insipidus pedigrees.A Rare Case of Congenital Diabetes Insipidus.Signaling Modification by GPCR Heteromer and Its Implication on X-Linked Nephrogenic Diabetes Insipidus.Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.Diabetes insipidus uncovered during conservative management of complicated acute appendicitis.A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus.Nephrogenic diabetes insipidus : Old deletion, new effect. A case report of a family from Greece.Pediatric disorders of water balance.Familial forms of diabetes insipidus: clinical and molecular characteristics.Congenital nephrogenic diabetes insipidus: the current state of affairs.Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2.Avian genomics lends insights into endocrine function in birds.Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus.A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V)Pediatric disorders of water balance.Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus.Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.A novel contiguous gene deletion ofAVPR2andARHGAP4genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability
P2860
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P2860
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
AVPR2 variants and mutations i ...... missense mutation significance
@ast
AVPR2 variants and mutations i ...... missense mutation significance
@en
AVPR2 variants and mutations i ...... missense mutation significance
@nl
type
label
AVPR2 variants and mutations i ...... missense mutation significance
@ast
AVPR2 variants and mutations i ...... missense mutation significance
@en
AVPR2 variants and mutations i ...... missense mutation significance
@nl
prefLabel
AVPR2 variants and mutations i ...... missense mutation significance
@ast
AVPR2 variants and mutations i ...... missense mutation significance
@en
AVPR2 variants and mutations i ...... missense mutation significance
@nl
P2860
P31
P3181
P356
P1476
AVPR2 variants and mutations i ...... missense mutation significance
@en
P2093
Edrice Milord
Elias Spanakis
P2860
P304
P3181
P356
10.1002/JCP.21552
P407
P577
2008-12-01T00:00:00Z