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
1998
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
Geller D, Rodriguez-Soriano J, Boado A, Schifter S, Bayer M, Chang S, Lifton R. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nature Genetics 1998, 19: 279-281. PMID: 9662404, DOI: 10.1038/966.Peer-Reviewed Original ResearchConceptsMineralocorticoid receptor genePseudohypoaldosteronism type IMineralocorticoid receptor functionBlood pressure homeostasisElevated aldosterone levelsSteroid hormone aldosteroneBlood pressure variationReceptor geneType IAldosterone levelsEpithelial sodium channelMild diseaseMetabolic acidosisPressure homeostasisRenal saltHormone aldosteroneSevere diseaseRegulation of saltAmiloride-sensitive epithelial sodium channelAutosomal recessive formReceptor functionHeterozygous mutationsSodium channelsUnaffected subjectsGene mutations