2022
Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus
Selvaraj S, Rodrigues D, Krishnamoorthy N, Fakhro K, Saraiva L, Lemos M. Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus. Journal Of Personalized Medicine 2022, 12: 118. PMID: 35055433, PMCID: PMC8779739, DOI: 10.3390/jpm12010118.Peer-Reviewed Original ResearchNephrogenic diabetes insipidusX-linked recessive nephrogenic diabetes insipidusRecessive nephrogenic diabetes insipidusMissense mutationsAquaporin-2Diabetes insipidusIn silico protein modelingCongenital nephrogenic diabetes insipidusArginine vasopressin receptor 2Plasma membrane localizationVolumes of dilute urineAverage urinary outputAVPR2</i> geneDownstream intracellular signaling pathwaysHeterozygous missense mutationX-linked recessive inheritanceVasopressin receptor 2Intracellular signaling pathwaysHuman cellular modelsResponse to water deprivationX chromosomePhenotypic effectsGenetic analysisTransmembrane domainMembrane localization
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
2009
Agonist-Independent Interactions between β-Arrestins and Mutant Vasopressin Type II Receptors Associated with Nephrogenic Syndrome of Inappropriate Antidiuresis
Kocan M, See H, Sampaio N, Eidne K, Feldman B, Pfleger K. Agonist-Independent Interactions between β-Arrestins and Mutant Vasopressin Type II Receptors Associated with Nephrogenic Syndrome of Inappropriate Antidiuresis. Endocrinology 2009, 23: 559-571. PMID: 19179480, PMCID: PMC2667710, DOI: 10.1210/me.2008-0321.Peer-Reviewed Original ResearchConceptsAssociated with impaired signalingSyndrome of inappropriate antidiuresisImpaired signalingArginine vasopressin levelsNephrogenic diabetes insipidusAgonist-independent internalizationSevere symptomatic hyponatremiaPlasma membraneV2R R137HType II receptorMutation-dependent differencesDynamin-dependent internalizationInappropriate antidiuresisNephrogenic syndromeArginine to histidineVasopressin type II receptorSymptomatic hyponatremiaDiabetes insipidusVasopressin levelsBioluminescence resonance energy transferMale infantG-protein uncouplingCodon 137II receptorsKidney's ability
2006
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD): a paradigm for activating mutations causing endocrine dysfunction.
Rosenthal S, Feldman B, Vargas G, Gitelman S. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD): a paradigm for activating mutations causing endocrine dysfunction. Pediatric Endocrinology Reviews : PER 2006, 4 Suppl 1: 66-70. PMID: 17261972.Peer-Reviewed Original ResearchConceptsActivating mutationsLevels of arginine vasopressinMutations of G protein-coupled receptorsAntidiuretic hormone secretionNephrogenic diabetes insipidusV2 vasopressin receptorNephrogenic syndromeV2R mutationsDiabetes insipidusArginine vasopressinClinical presentationAntidiuretic hormoneVasopressin signalingG protein-coupled receptorsEndocrine dysfunctionVasopressin receptorsHormone secretionInactivating mutationsGain-of-functionUndetectable levelsNSIADVasopressinAntidiuresisMutationsPatientsNephrogenic 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
2002
Water Transport in the Kidney and Nephrogenic Diabetes Insipidus
Cohen M, Post G. Water Transport in the Kidney and Nephrogenic Diabetes Insipidus. Journal Of Veterinary Internal Medicine 2002, 16: 510-517. PMID: 12322698, DOI: 10.1111/j.1939-1676.2002.tb02379.x.Peer-Reviewed Original ResearchConceptsNephrogenic diabetes insipidusDiabetes insipidusSecondary nephrogenic diabetes insipidusCongenital nephrogenic diabetes insipidusAction of vasopressinIrreversible causeInsipidusRenal tubulesPlasma hyperosmolalityKidneyCausative problemsVasopressinPolyuriaWater homeostasisPolydipsiaAdequate concentrationsResult of defectsMedicationsHyposthenuriaIllnessBloodHyperosmolality
1994
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
Friedman E, Bale A, Carson E, Boson W, Nordenskjöld M, Ritzén M, Ferreira P, Jammal A, De Marco L. Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proceedings Of The National Academy Of Sciences Of The United States Of America 1994, 91: 8457-8461. PMID: 8078903, PMCID: PMC44625, DOI: 10.1073/pnas.91.18.8457.Peer-Reviewed Original ResearchConceptsVasopressin type 2 receptor geneInheritance patternSixth transmembrane domainVasopressin type 2 receptorDisease-related genesNephrogenic diabetes insipidusGradient gel electrophoresisTransmembrane domainV2R genesType 2 receptor geneX chromosomeXq28 markersDominant inheritance patternGenesDNA sequencingDirect DNA sequencingReceptor geneGel electrophoresisMutationsUnrelated kindredsAdditional familiesRecessive mannerDisease pathogenesisLarge BrazilianAffected individuals
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