2008
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nature Genetics 2008, 40: 592-599. PMID: 18391953, PMCID: PMC3766631, DOI: 10.1038/ng.118.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SequenceAmino Acid SubstitutionBlood PressureCohort StudiesFemaleHeterozygoteHumansHypertensionKidneyMaleMiddle AgedMolecular Sequence DataMutationPotassium Channels, Inwardly RectifyingPrevalenceReceptors, DrugSodium ChlorideSodium-Potassium-Chloride SymportersSolute Carrier Family 12, Member 1Solute Carrier Family 12, Member 3SymportersConceptsIndependent mutationsCommon complex traitsCommon complex diseasesRare recessive diseaseBlood pressure variationComparative genomicsGenetic architectureComplex traitsFramingham Heart StudyTrait lociEffects of allelesRare allelesSignificant blood pressure reductionComplex diseasesBlood pressure reductionCommon variantsDevelopment of hypertensionMutationsAllelesGenesBlood pressureRisk allelesRenal saltRecessive diseaseGeneral populationMouse model of type II Bartter's syndrome. I. Upregulation of thiazide-sensitive Na-Cl cotransport activity
Cantone A, Yang X, Yan Q, Giebisch G, Hebert SC, Wang T. Mouse model of type II Bartter's syndrome. I. Upregulation of thiazide-sensitive Na-Cl cotransport activity. American Journal Of Physiology. Renal Physiology 2008, 294: f1366-f1372. PMID: 18385266, DOI: 10.1152/ajprenal.00608.2007.Peer-Reviewed Original ResearchMeSH KeywordsAdaptation, PhysiologicalAmilorideAnimalsBartter SyndromeCation Transport ProteinsChloridesDisease Models, AnimalDiureticsEpithelial Sodium ChannelsFemaleFurosemideGlomerular Filtration RateHydrochlorothiazideLoop of HenleMaleMiceMice, Mutant StrainsPotassium Channels, Inwardly RectifyingPregnancySodiumSodium-Potassium-Chloride SymportersSolute Carrier Family 12, Member 1Up-RegulationConceptsThick ascending limbExcretion rateWhole kidney glomerular filtration rateKidney glomerular filtration rateFractional excretion rateFurosemide-induced incrementsGlomerular filtration rateType II Bartter's syndromeHyperprostaglandin E syndromeEffect of furosemideDistal nephron segmentsDistal convoluted tubuleExaggerated natriuresisROMK null miceNa excretionFiltration rateRenal saltAbsolute excretionBartter's syndromeE syndromeMouse modelClearance studiesConvoluted tubulesAscending limbNull mice
2001
Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans
Cruz D, Simon D, Nelson-Williams C, Farhi A, Finberg K, Burleson L, Gill J, Lifton R. Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans. Hypertension 2001, 37: 1458-1464. PMID: 11408395, DOI: 10.1161/01.hyp.37.6.1458.Peer-Reviewed Original ResearchConceptsLower blood pressureBlood pressureGitelman syndromeHypokalemic alkalosisReduces Blood PressureHigh salt intakeReduced blood pressureDiastolic blood pressureHigh blood pressureWild-type subjectsNa-Cl cotransporterFamily membersSalt intakeRenal saltClinical consequencesEpidemiological studiesGeneral populationHeterozygous childrenSyndromeHeterozygote subjectsGenetic testingLower ageSalt homeostasisSignificant predictorsHypertension
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
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply