2023
Chapter 8 Familial hyperaldosteronism
Pappachan J, Fernandez C, Geller D. Chapter 8 Familial hyperaldosteronism. 2023, 105-112. DOI: 10.1016/b978-0-323-96120-2.00016-9.ChaptersPrimary aldosteronismFamilial hyperaldosteronismMonogenic hypertensionOral glucocorticoid therapyGlucocorticoid-remediable aldosteronismRare autosomal dominant disorderGroup of diseasesSporadic primary aldosteronismAutosomal dominant disorderFH-IIIFH-IVGlucocorticoid therapyPathobiological aspectsDiagnostic evaluationRare disorderHyperaldosteronismFamilial formsBiochemical testingDominant disorderFH-IICommon formAldosteronismHypertensionDisordersVariable penetrance
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