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
2012
Erratum: Corrigendum: Epigenetic modulation of the renal β-adrenergic–WNK4 pathway in salt-sensitive hypertension
Mu S, Shimosawa T, Ogura S, Wang H, Uetake Y, Kawakami-Mori F, Marumo T, Yatomi Y, Geller D, Tanaka H, Fujita T. Erratum: Corrigendum: Epigenetic modulation of the renal β-adrenergic–WNK4 pathway in salt-sensitive hypertension. Nature Medicine 2012, 18: 630-630. DOI: 10.1038/nm0412-630b.Peer-Reviewed Original Research
2011
Erratum: Corrigendum: Epigenetic modulation of the renal β-adrenergic–WNK4 pathway in salt-sensitive hypertension
Mu S, Shimosawa T, Ogura S, Wang H, Uetake Y, Kawakami-Mori F, Marumo T, Yatomi Y, Geller D, Tanaka H, Fujita T. Erratum: Corrigendum: Epigenetic modulation of the renal β-adrenergic–WNK4 pathway in salt-sensitive hypertension. Nature Medicine 2011, 17: 1220-1020. DOI: 10.1038/nm0811-1020.Peer-Reviewed Original Research
2009
Chapter 18 Pseudohypaldosteronism Type 1 and Hypertension Exacerbated in Pregnancy
Geller D. Chapter 18 Pseudohypaldosteronism Type 1 and Hypertension Exacerbated in Pregnancy. 2009, 301-312. DOI: 10.1016/b978-0-12-449851-8.00018-8.ChaptersPseudohypoaldosteronism type 1Autosomal dominant PHA1Autosomal dominant pseudohypoaldosteronism type 1Type 1Glucocorticoid response elementAutosomal recessive pseudohypoaldosteronism type 1Renal salt wastingRare metabolic disorderElevated reninKaliuretic actionAldosterone levelsRenal resistanceAbsence of hormoneMetabolic acidosisSalt wastingMetabolic disordersReceptor functionHeterogeneous disorderFirst weekReceptorsDisease-causing mutationsHyperkalemiaAldosteronePregnancySyndrome
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 mechanismsWorseningFindingsNephronReceptorsMolecular Mechanisms of Human Hypertension
Lifton R, Gharavi A, Geller D. Molecular Mechanisms of Human Hypertension. Cell 2001, 104: 545-556. PMID: 11239411, DOI: 10.1016/s0092-8674(01)00241-0.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
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