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
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