2003
Activating and inactivating mutations of the human mineralocorticoid receptor
Geller D. Activating and inactivating mutations of the human mineralocorticoid receptor. Current Opinion In Endocrinology Diabetes And Obesity 2003, 10: 186-190. DOI: 10.1097/00060793-200306000-00005.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsBlood pressureRenal sodium reabsorptionPrincipal effector moleculeNet sodium balanceLong-term controlAldosterone systemSodium reabsorptionMineralocorticoid receptorSodium balanceDistal nephronCardiovascular physiologyEffector moleculesFunction mutationsKidneyReceptorsHuman diseasesPhysiologyNumerous linesMutationsDiseaseNephronFine regulationReabsorption
2001
A mineralocorticoid receptor mutation causing human hypertension
Geller D. A mineralocorticoid receptor mutation causing human hypertension. Current Opinion In Nephrology & Hypertension 2001, 10: 661-665. PMID: 11496062, DOI: 10.1097/00041552-200109000-00018.Commentaries, Editorials and LettersConceptsBlood pressureHuman hypertensionMineralocorticoid receptor mutationsMineralocorticoid receptorSevere worseningDistal nephronHypertensionReceptor mutationsCardiovascular physiologyMonogenic formsSodium transportReceptor biologyFunction mutationsMutationsNotable findingPregnancyRegulatory mechanismsWorseningFindingsNephronReceptors
2000
Activating Mineralocorticoid Receptor Mutation in Hypertension Exacerbated by Pregnancy
Geller D, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai F, Sigler P, Lifton R. Activating Mineralocorticoid Receptor Mutation in Hypertension Exacerbated by Pregnancy. Science 2000, 289: 119-123. PMID: 10884226, DOI: 10.1126/science.289.5476.119.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAldosteroneAmino Acid SequenceAmino Acid SubstitutionBase SequenceBinding, CompetitiveDimerizationFemaleHeterozygoteHumansHypertensionMaleModels, MolecularMolecular Sequence DataPedigreePoint MutationPregnancyPregnancy Complications, CardiovascularProgesteroneProtein ConformationProtein Structure, SecondaryReceptors, MineralocorticoidReceptors, SteroidSteroidsConceptsMineralocorticoid receptorMajor public health problemMineralocorticoid receptor mutationsPregnancy-related hypertensionEarly-onset hypertensionPublic health problemMR antagonistsUnknown causeHypertensionReceptor mutationsHealth problemsNuclear hormone receptorsReceptor activationPotent agonistHormone receptorsReceptor specificityMR activityWild-type receptorReceptorsPregnancyMutationsBiochemical studiesGroupProgesteroneAgonists