Property Summary

NCBI Gene PubMed Count 126
PubMed Score 1792.98
PubTator Score 427.33

Knowledge Summary

Patent (5,813)

Expression

MLP Assay (4)

AID Type Active / Inconclusive / Inactive Description
434974 screening 0 / 0 / 0 Late-stage radioligand binding assay to identify inhibitors of NADPH oxidase 1 (NOX1): PDSP screen
463201 other 0 / 0 / 30 SAR Analysis using an Image-based Vasopressin Agonist Counter Assay for the Identification of Selective Antagonists of the GPR35 Receptor
463202 other 0 / 0 / 30 SAR Analysis using an Image-based Vasopressin Antagonist Counter Assay for the Identification of Selective Antagonists of the GPR35 Receptor
743058 confirmatory 9 / 0 / 22 Late-stage results from the probe development effort to identify antagonists of arginine vasopressin receptor 1a (AVPR1a): fluorescence-based cell-based dose response AVPR2 inhibition counterscreen assay

Gene RIF (80)

PMID Text
27117808 We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins.
26244674 A heterozygous deletion in exon 1 of the AVPR2 gene is associated with nephrogenic diabetes insipidus.
26131744 In this study, we identified and characterized a new gain-of function mutation of the V2R, which leads to nephrogenic syndrome of inappropriate diuresis.
24944242 AVP acting at V2R does not appear to regulate water losses from body fluids other than renal excretion during exercise.
24628417 Rescue of the N321K-V2R function by Val(4)-desmopressin action in nephrogenic diabetes insipidus.
24556353 This review summarizes some of the unexpected roles of V2R signaling and suggests that vasopressin signaling itself may contribute crucially to loss of polarity and enhanced proliferation in cystic kidney epithelium.
24026507 X-linked nephrogenic diabetes insipidus and severity of illness in this family is caused by a novel deletion in the AVPR2 gene
23935101 vasopressin receptor type 2 signaling is controlled by retromer and arrestin in a noncanonical regulatory pathway
23762448 Three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V) may be related to nephrogenic syndrome of inappropriate antidiuresis and to nephrogenic diabetes insipidus.
23604254 crystal structure of beta-arrestin-1 (also called arrestin-2) in complex with a fully phosphorylated 29-amino-acid carboxy-terminal peptide derived from the human V2 vasopressin receptor (V2Rpp)
23364801 Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to our understanding of the mechanisms of urinary concentration and identified the vasopressin receptor AVPR2, as well as the water channel aquaporin-2.
23362144 No pathological variants affecting R137 were detected among the 5,142 AVPR2 alleles successfully genotyped. Even at the population extremes of serum sodium distribution, we estimate minor allele frequency
23150186 52 disease-causing mutations of AVPR2 were identified. missense mutations were most common (54%), followed by deletion mutations. 64 women who had monoallelic disease-causing AVPR2 mutations, 16 had NDI symptoms, including 4 complete NDI subjects
22965914 X-linked nephrogenic diabetes insipidus (NDI) and intellectual disability in two dizygotic twin brothers was caused by a novel contiguous deletion of 17,905 bp of the entire AVPR2 gene and intron 7 of the ARHGAP4 gene.
22879391 The deletion mechanisms in the AVPR2 region do not follow the rules of non-allelic homologous recombination. Review.
22644838 Of the 15 patients with diabetes insipidus eight patients have AVPR2 mutations
22386940 In this mini-review the retrospective analysis of 13 known AVPR2 mutations that have been previously shown in vitro to partially abolish AVPR2 function is described, along with a novel mutation diagnosed in a kindred with partial nephrogenic diabetes insipidus. [Review]
22145481 A novel missense mutation c.506T > C (p.L169P) in AVPR2 in a patient with inherited nephrogenic diabetes insipidus.
22144672 V2R antagonists can act as protean agonists, serving as pharmacological chaperones for inactivating V2R mutants and also as inverse agonists of wild-type receptors.
22052024 the minor haplotype constructs of AVPR2 SNPs were associated with larger body weight losses during the Ironman Triathlons.
21917732 Loss-of-function mutations in the vasopressin type 2 receptor gene is associated with nephrogenic diabetes insipidus.
21575724 Overexpression of a V2R fragment corresponding to V2R-i3 as a fusion protein with thioredoxin A at the N-terminus and a hexahistidine tag between the two proteins.
21574774 It is suggested that disorder of V2R signaling in the endolymphatic sac for any reason could be involved in the pathogenesis of endolymphatic hydrops.
20683494 no asp-lys-ile and asp-arg-tyr mutations significantly altered cAMP production and cell surface expression of V2R in these cells
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20403097 The 12E-V2R variant has increased binding affinity for AVP, resulting in increased signal transduction, and is associated with increased levels of VWF propeptide, VWF, and FVIII.
20389105 study of two unrelated Thai boys with congenital nephrogenic diabetes insipidus; the novel AVPR2 mutation M311V retains partial activity and results in a milder form of nephrogenic diabetes insipidus
20237496 Observational study of gene-disease association. (HuGE Navigator)
20159941 Amino acid substitution of AVPR2 induces the nephrogenic syndrome of inappropriate antidiuresis by reducing surface receptor levels and increasgin cycl AMP production.
19996159 Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations
19996159 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19816050 The V88M mutation is associated with phenotypical diversity, which may be explained by the fact that both the expression level and the hormone-binding affinity are affected by the mutation.
19812297 Ligand binding and signal transduction capability are dependent on localization of amino acid variation. Striking divergences at level of receptor functionality may thus underlie similar clinical phenotypes in congenital nephrogenic diabetes insipidus.
19703807 The X-linked nephrogenic diabetes insipidus is caused by a novel mutation in the AVPR2 gene that is predicted to truncate the receptor protein.
19638944 a negative feedback system between vasopressin and arginine vasopressin 2 receptor in the endolymphatic sac may function for inner ear fluid homeostasis against stress-induced increases in vasopressin
19542240 Female carriers of activating mutations of the vasopressin receptor are susceptible to hyponatraemia and therefore need to be provided with advice regarding fluid intake.
19449677 Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.
19217806 Our study shows for the first time that renal cancer may effectively synthesize and express the V2-R.
19179480 Data indicate that the vasopressin 2 receptor-R137C and V2R-R137L mutants traffic considerably more efficiently to the plasma membrane than V2R-R137H, identifying this as a potentially important mutation-dependent difference affecting V2R function.
19170711 Wild-type V2R localized to the cell membrane while L57R V2R remained intracellular.
19094077 both pAVP (1.6-fold versus controls; P = 0.048) and inner ear V2R mRNA expression (41.5-fold versus controls; P = 0.022) were significantly higher in Meniere's patients than controls
19086053 Observational study of gene-disease association. (HuGE Navigator)
18753429 adults with intermittent, severe hyponatraemia may have a constitutively activating mutation in the AVPR2 with resultant nephrogenic syndrome of inappropriate antidiuresis
18726898 AVPR2 variants & mutations in nephrogenic diabetes insipidus(NDI); spectrum of mutations varies from rare gene variants or polymorphisms not causing NDI to rare mutations causing NDI, among which arginine and tyrosine are the most common missense
18578504 identified a novel phosphorylation site (Ser(255))in the third intracellular loop that could be phosphorylated in vitro by protein kinase A, but not by Akt kinase
18358546 Data demonstrated a direct and specific interaction between vasopressin V2 receptor and GC1q-Rthese two proteins via the arginine cluster of vasopressin V2 receptor.
18323675 Clinical nephrogenic diabetes insipidus phenotypes may correlate with the X-inactivation patterns in female carriers with heterozygote vasopressin type 2 receptor gene mutations.
18288441 The protective mechanism exerted by OPC-31260 stems from its influence on the renal vasopressin V(2) receptors. These observations might suggest an effective approach to the treatment of global hypoxia-induced cerebral oedema in humans.
18199683 Ubiquitin-like protein PLIC-2 is identified as a negative regulator of G protein-coupled receptor endocytosis.
17941907 A novel missense mutation in exon 3 of the AVPR2 gene was identified in the nephrogenic diabetes insipidus patients.
17626156 V(2)R mRNA was expressed in medullary TAL (MTAL), macula densa, connecting tubule, and cortical and medullary collecting duct, and was weakly expressed in cortical TAL and distal convoluted tubule in rat, mouse, and human.
17550212 Observational study of gene-disease association. (HuGE Navigator)
17550212 Urinary AQP2 excretion was absent in patients with severely debilitating mutations, a novel total deletion of the A VPR2 gene, and a novel nonsense mutation W296X.
17389737 Primary nocturanl enuresis and coexisting nephrogenic diabetes insipidus, as a result of a novel nonsense mutation in the V2R gene (C358X).
17229917 Mutations involved in nephrogenic syndrome of inappropriate antidiuresis in men and womwen.
17216256 Y205F missense mutation would cause nephrogenic diabetes insipidus.
17101063 These findings suggest that the two patients in a Chinese family suffering from congenital nephrogenic diabetes insipidus had a 5,995-bp deletion and 3-bp (GAG) insertion at Xq28. The deletion contained the entire AVPR2 gene and exon 22 of the C1 gene.
17020465 Findings of mutations scattered over the entire coding region of the AVPR2 gene are a valuable model to determine structure function relationship in G-protein-coupled receptor-related diseases.
16845277 Two novel mutations were identified in each of AVPR2 and AQP2 underlying Congenital Nephrogenic Diabetes Insipidus in Arab families.
16825342 The disorder nephrogenic diabetes insipidus (NDI) is inherited in an X-linked or autosomal fashion due to mutations in the genes encoding V2R or AQP2, respectively.
16580609 Most missense AVPR2 mutations lead to receptors that are trapped intracellularly; a few mutant receptors reach the cell surface but are unable to bind AVP or to properly trigger an intracellular cyclic adenosine monophosphate signal.
16563128 After VP stimulation of renal epithelial cells, AQP2 accumulates at the cell surface, while the V2R is actively internalized. This endocytotic block may involve a reduced capacity of phosphorylated AQP2 to interact with the endocytotic machinery.
16333859 molecular dynamics analysis of mechanism of desmopressin binding in vasopressin V2 receptor versus vasopressin V1a and oxytocin receptors
16267275 V2R-V206D and V2R-S167T were rescued and matured to a greater extent, suggesting that the rescuing activity of a pharmacological versus chemical chaperone is broader and stronger
16240160 Genetic analysis confirmed a mutation in AVPR2.
16162341 Results show that the hydrophobic amino acid residues in the membrane-proximal C tail of the G protein-coupled vasopressin V2 receptor are necessary for transport-competent receptor folding.
16115624 The data suggested that lysine 231 and glutamate 268 might interact with each other and might play a role in promoting GDP/GTP exchange in V2 vasopressin receptors.
15452133 V2 vasopressin receptor has a role in inhibiting signaling through its interaction with receptor dimer and G protein
15319442 a C-terminal region of the V2R important for calmodulin interaction is also important in modulation of V2R elevation of intracellular Ca2
15319430 analysis of pharmacochaperone cell surface delivery with a three-dimensional homology model of the antagonist-bound hV2R
14757828 examination of interaction with beta-arrestin and trafficking patterns by heterodimerization with V1 vasopressin receptor
12960162 V2 vasopressin receptor degradation is regulated by agonist-promoted ubiquitination
12900404 palmitoylation enhances the recruitment of beta-arrestin to the activated V2 vasopressin receptor thus facilitating processes requiring the scaffolding action of beta-arrestin
12482593 HV2R has a serine/threonine motif that is required for retention in the cytoplasm
11923476 a single amino acid difference in the first extracellular loop determines the efficiency of cell surface expression
11916004 Mutations causing NDI include R106C, F287L, and R337X.
11868598 A new mutation associated with nephrogenic diabetes insipidus was isolated: a 6-AA deletion between G107 and C112.
11754100 A novel type of contiguous gene deletion of AVPR2 has been identified in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
10561596 proteolytic cleavage of the V2 receptor requires a defined conformation and might play a role in signal termination at elevated hormone concentrations

AA Sequence

MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGH      1 - 70
WAPIHVFIGHLCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRA     71 - 140
ICRPMLAYRHGSGAHWNRPVLVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIA    141 - 210
LMVFVAPTLGIAACQVLIFREIHASLVPGPSERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVY    211 - 280
VLCWAPFFLVQLWAAWDPEAPLEGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCARGRTPPS    281 - 350
LGPQDESCTTASSSLAKDTSS                                                     351 - 371
//

Text Mined References (129)

PMID Year Title
27117808 2016 A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.
26244674 2016 An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter.
26131744 2015 Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.
24944242 2014 Characterization of the effects of the vasopressin V2 receptor on sweating, fluid balance, and performance during exercise.
24628417 2014 Altered agonist sensitivity of a mutant v2 receptor suggests a novel therapeutic strategy for nephrogenic diabetes insipidus.
24556353 2014 Vasopressin-2 receptor signaling and autosomal dominant polycystic kidney disease: from bench to bedside and back again.
24026507 2014 A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.
23935101 2013 Noncanonical control of vasopressin receptor type 2 signaling by retromer and arrestin.
23762448 2013 Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V).
23604254 2013 Structure of active ?-arrestin-1 bound to a G-protein-coupled receptor phosphopeptide.
23364801 2013 Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.
23362144 2013 Functional polymorphisms affecting the clinically important arginine-137 residue of AVPR2 do not influence serum sodium concentration at the population level.
23236378 2012 Mammalian ? arrestins link activated seven transmembrane receptors to Nedd4 family e3 ubiquitin ligases and interact with ? arrestins.
23150186 2013 Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.
22965914 2012 A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
22879391 2012 Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.
22644838 2012 Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.
22386940 2012 Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
22145481 2011 A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
22144672 2012 V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.
22052024 2012 AVPR2 gene and weight changes during triathlons.
21917732 2012 Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.
21575724 2011 Expression, purification and NMR characterization of the cyclic recombinant form of the third intracellular loop of the vasopressin type 2 receptor.
21574774 2011 Endolymphatic sac tumor with overexpression of V2 receptor mRNA and inner ear hydrops.
20683494 The effect of aspartate-lysine-isoleucine and aspartate-arginine-tyrosine mutations on the expression and activity of vasopressin V2 receptor gene.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20403097 2010 Functional variation in the arginine vasopressin 2 receptor as a modifier of human plasma von Willebrand factor levels.
20389105 2010 Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20159941 2010 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.
19996159 2010 Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19816050 2010 Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus.
19812297 2009 Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.
19703807 A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.
19638944 2009 Plasma vasopressin and V2 receptor in the endolymphatic sac in patients with delayed endolymphatic hydrops.
19542240 2009 Thirst perception and arginine vasopressin production in a kindred with an activating mutation of the type 2 vasopressin receptor: the pathophysiology of nephrogenic syndrome of inappropriate antidiuresis.
19449677 2009 Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.
19440390 2009 Involvement of the V2 vasopressin receptor in adaptation to limited water supply.
19372219 2009 Mdm2 directs the ubiquitination of beta-arrestin-sequestered cAMP phosphodiesterase-4D5.
19217806 Aquaretic inhibits renal cancer proliferation: Role of vasopressin receptor-2 (V2-R).
19179480 2009 Agonist-independent interactions between beta-arrestins and mutant vasopressin type II receptors associated with nephrogenic syndrome of inappropriate antidiuresis.
19170711 2009 Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus.
19094077 2008 Meniere's attacks occur in the inner ear with excessive vasopressin type-2 receptors.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
18753429 2008 Intermittent severe, symptomatic hyponatraemia due to the nephrogenic syndrome of inappropriate antidiuresis.
18726898 2008 AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
18578504 2008 Phosphorylation analysis of G protein-coupled receptor by mass spectrometry: identification of a phosphorylation site in V2 vasopressin receptor.
18358546 2008 The multifunctional protein GC1q-R interacts specifically with the i3 loop arginine cluster of the vasopressin V2 receptor.
18323675 2008 Correlation between clinical phenotypes and X-inactivation patterns in six female carriers with heterozygote vasopressin type 2 receptor gene mutations.
18288441 2008 Inhibitory effect of vasopressin receptor antagonist OPC-31260 on experimental brain oedema induced by global cerebral ischaemia.
18240029 2008 Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors.
18199683 2008 The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis.
17941907 2008 Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.
17626156 2007 Vasopressin V2 receptor expression along rat, mouse, and human renal epithelia with focus on TAL.
17550212 2007 Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.
17389737 2007 Relief of nocturnal enuresis by desmopressin is kidney and vasopressin type 2 receptor independent.
17229917 2007 Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree.
17216256 2007 A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene.
17101063 2006 Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
17020465 2006 Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16845277 2006 Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
16825342 2006 Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.
16580609 2006 Nephrogenic diabetes insipidus.
16563128 2006 Aquaporin 2 (AQP2) and vasopressin type 2 receptor (V2R) endocytosis in kidney epithelial cells: AQP2 is located in 'endocytosis-resistant' membrane domains after vasopressin treatment.
16333859 2006 Investigation of mechanism of desmopressin binding in vasopressin V2 receptor versus vasopressin V1a and oxytocin receptors: molecular dynamics simulation of the agonist-bound state in the membrane-aqueous system.
16267275 2006 Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism.
16240160 2005 Efficacy of COX-2 inhibitors in a case of congenital nephrogenic diabetes insipidus.
16162341 2005 The hydrophobic amino acid residues in the membrane-proximal C tail of the G protein-coupled vasopressin V2 receptor are necessary for transport-competent receptor folding.
16115624 2005 A role for K268 in V2R folding.
15872203 2005 Nephrogenic syndrome of inappropriate antidiuresis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15452133 2004 A cyclic peptide mimicking the third intracellular loop of the V2 vasopressin receptor inhibits signaling through its interaction with receptor dimer and G protein.
15319442 2004 Calmodulin interacts with the V2 vasopressin receptor: elimination of binding to the C terminus also eliminates arginine vasopressin-stimulated elevation of intracellular calcium.
15319430 2004 Pharmacochaperones post-translationally enhance cell surface expression by increasing conformational stability of wild-type and mutant vasopressin V2 receptors.
14757828 2004 Heterodimerization of V1a and V2 vasopressin receptors determines the interaction with beta-arrestin and their trafficking patterns.
12960162 2003 Regulation of V2 vasopressin receptor degradation by agonist-promoted ubiquitination.
12900404 2003 Palmitoylation of the V2 vasopressin receptor carboxyl tail enhances beta-arrestin recruitment leading to efficient receptor endocytosis and ERK1/2 activation.
12482593 2002 An expanded V2 receptor retention signal.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12473660 2003 The stability of the G protein-coupled receptor-beta-arrestin interaction determines the mechanism and functional consequence of ERK activation.
12436935 2002 Molecular pharmacology and modeling of vasopressin receptors.
12409230 2002 GIP, a G-protein-coupled receptor interacting protein.
12036966 2002 Selective inhibition of heterotrimeric Gs signaling. Targeting the receptor-G protein interface using a peptide minigene encoding the Galpha(s) carboxyl terminus.
11923476 2002 Variant amino acids in the extracellular loops of murine and human vasopressin V2 receptors account for differences in cell surface expression and ligand affinity.
11916004 2002 Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
11868598 2002 Water intake and 24-hour blood pressure monitoring in a patient with nephrogenic diabetes insipidus caused by a novel mutation of the vasopressin V2R gene.
11857925 2002 [Nephrogenic diabetes insipidus associated with mutations of vasopressin V2 receptors and aquaporin-2].
11754100 2002 Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
11476731 2001 The V2 vasopressin receptor mutations and fluid homeostasis.
11232028 2001 The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus.
11026555 2000 Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.
10880054 2000 Vasopressin-induced von Willebrand factor secretion from endothelial cells involves V2 receptors and cAMP.
10858434 2000 Dynamic interaction of human vasopressin/oxytocin receptor subtypes with G protein-coupled receptor kinases and protein kinase C after agonist stimulation.
10770218 2000 Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
10749568 2000 Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants.
10694923 1998 C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online.
10561596 1999 Structural requirements for V2 vasopressin receptor proteolytic cleavage.
10477084 1999 MCF-7 breast cancer cells express normal forms of all vasopressin receptors plus an abnormal V2R.
9711877 1998 V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
9581826 1998 Expression of all known vasopressin receptor subtypes by small cell tumors implies a multifaceted role for this neuropeptide.
9452109 1998 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.
9402087 1997 Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
9224808 1997 Palmitoylation of the V2 vasopressin receptor.
8999963 1997 Phosphorylation of the V2 vasopressin receptor.
8882880 1996 Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.
8735975 1996 Evidence for expression of vasopressin V2 receptor mRNA in human lung.
8621513 1996 Different single receptor domains determine the distinct G protein coupling profiles of members of the vasopressin receptor family.
8514744 1993 Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.
8479490 1993 Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.
8267567 1993 Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
8078903 1994 Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
8045948 1994 Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus.
8037205 1994 Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
7999078 1994 Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus.
7987330 1994 Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.
7984150 1994 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.
7913579 1994 Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
7833930 1994 Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
7560098 1995 Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
2714800 1989 Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus.
1534150 1992 Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus.
1534149 1992 Molecular cloning of the receptor for human antidiuretic hormone.
1415251 1992 Structure and chromosomal localization of the human antidiuretic hormone receptor gene.
1356229 1992 Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus.
1324225 1992 Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region.
1303271 1992 Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.
1303257 1992 Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.