2012
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 2012, 482: 98-102. PMID: 22266938, PMCID: PMC3278668, DOI: 10.1038/nature10814.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAmino Acid SequenceAnimalsBase SequenceBlood PressureCarrier ProteinsCohort StudiesCullin ProteinsElectrolytesExonsFemaleGene Expression ProfilingGenes, DominantGenes, RecessiveGenotypeHomeostasisHumansHydrogen-Ion ConcentrationHypertensionMaleMiceMicrofilament ProteinsModels, MolecularMolecular Sequence DataMutationPhenotypePotassiumPseudohypoaldosteronismSodium ChlorideWater-Electrolyte Imbalance
2006
2006 Donald Seldin Lecture—Molecular Genetics of Cardiovascular Risks: The Kidney as the Cause of Hypertension
Lifton R. 2006 Donald Seldin Lecture—Molecular Genetics of Cardiovascular Risks: The Kidney as the Cause of Hypertension. Circulation 2006, 114 DOI: 10.1161/circ.114.suppl_18.ii_h-a.Peer-Reviewed Original ResearchRenal salt reabsorptionDeterminants of blood pressureSalt reabsorptionBlood pressureIncreased renal salt reabsorptionMinority of patientsCause of hypertensionCongestive heart failureFamily of serine-threonine kinasesRenal salt handlingEncode ion channelsProduction of aldosteroneLower blood pressureTreatment of hypertensionBlood pressure regulationMolecular genetic analysisSerine-threonine kinaseDiuretic therapyMechanism of actionHeart failureCardiovascular riskSalt handlingHypertensionGenetic analysisKidney failure