2007
Gain-of-Function Mutations in the V2 Vasopressin Receptor
Rosenthal S, Gitelman S, Vargas G, Feldman B. Gain-of-Function Mutations in the V2 Vasopressin Receptor. Hormone Research In Paediatrics 2007, 67: 121-125. DOI: 10.1159/000097567.Peer-Reviewed Original ResearchSecretion of antidiuretic hormoneV2 vasopressin receptorAntidiuretic hormoneVasopressin receptorsDisorders of water balanceAbnormal water balanceArginine vasopressin levelsGain-of-function mutationsDisordered water balanceNephrogenic syndromeLaboratory featuresVasopressin levelsAssociated with such mutationsActivating mutationsWater overloadFluid homeostasisGain-of-functionLaboratory evaluationClinical disordersSyndromeClinical diseaseNSIADReceptorsMutationsHormone
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 levelsNSIADVasopressinAntidiuresisMutationsPatients
2005
Nephrogenic Syndrome of Inappropriate Antidiuresis
Feldman B, Rosenthal S, Vargas G, Fenwick R, Huang E, Matsuda-Abedini M, Lustig R, Mathias R, Portale A, Miller W, Gitelman S. Nephrogenic Syndrome of Inappropriate Antidiuresis. New England Journal Of Medicine 2005, 352: 1884-1890. PMID: 15872203, PMCID: PMC5340184, DOI: 10.1056/nejmoa042743.Peer-Reviewed Original ResearchConceptsArginine vasopressinPresence of SIADHCause of hyponatremiaAntidiuretic hormone secretionGain-of-function mutationsV2 vasopressin receptorArginine to cysteineVasopressin receptorsHormone secretionCodon 137Clinical pictureV2R genesMissense mutationsLaboratory evaluationConstitutive activationSIADHPatientsReceptorsMutationsDNA sequencesHyponatremiaAVPR2VasopressinAntidiuresisSyndrome
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