2013
Characterization of Three Vasopressin Receptor 2 Variants: An Apparent Polymorphism (V266A) and Two Loss-of-Function Mutations (R181C and M311V)
Armstrong S, Seeber R, Ayoub M, Feldman B, Pfleger K. Characterization of Three Vasopressin Receptor 2 Variants: An Apparent Polymorphism (V266A) and Two Loss-of-Function Mutations (R181C and M311V). PLOS ONE 2013, 8: e65885. PMID: 23762448, PMCID: PMC3675069, DOI: 10.1371/journal.pone.0065885.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAquaporin 2Arginine VasopressinArrestinsbeta-ArrestinsChlorocebus aethiopsCOS CellsCyclic AMPDiabetes Insipidus, NephrogenicGene Expression RegulationGenetic Diseases, X-LinkedGTP-Binding Protein alpha Subunits, GsHEK293 CellsHumansInappropriate ADH SyndromeInositol PhosphatesMutationPolymorphism, GeneticReceptors, VasopressinSignal TransductionConceptsNephrogenic diabetes insipidusArginine vasopressinWild-type receptorAquaporin-2 water channelsActivation of Gs proteinsIncreased inositol phosphate productionPartial agonismVasopressin V2 receptorInositol phosphate accumulationGain-of-function mutationsIncreased cAMP levelsBRET assayInositol phosphate productionLoss-of-function mutationsNephrogenic syndromeV2R mutationsLoss-of-functionDiabetes insipidusMutant V2RV2 receptorsCAMP accumulationMilder phenotypePosterior pituitaryB-arrestinControls water homeostasis
2006
Nephrogenic Syndrome of Inappropriate Antidiuresis: A Novel Disorder in Water Balance in Pediatric Patients
Gitelman S, Feldman B, Rosenthal S. Nephrogenic Syndrome of Inappropriate Antidiuresis: A Novel Disorder in Water Balance in Pediatric Patients. The American Journal Of Medicine 2006, 119: s54-s58. PMID: 16843086, DOI: 10.1016/j.amjmed.2006.05.008.Peer-Reviewed Original ResearchConceptsCause of hyponatremiaAntidiuretic hormone secretionNephrogenic diabetes insipidusConsistent with SIADHVasopressin V2 receptorConstitutive activationGain of function mutationsSite-directed mutagenesisNephrogenic syndromeNonrenal manifestationsDiabetes insipidusCOS-7 cellsClinical presentationCotransfected COS-7 cellsLuciferase reporter plasmidV2 receptorsOptimal therapyPediatric patientsMale infantLaboratory findingsHormone secretionDNA sequencesFunctional defectsExpression vectorFunction mutations
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