2011
K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Åkerström G, Wang W, Carling T, Lifton RP. K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension. Science 2011, 331: 768-772. PMID: 21311022, PMCID: PMC3371087, DOI: 10.1126/science.1198785.Peer-Reviewed Original ResearchMeSH KeywordsAdrenal Cortex NeoplasmsAdrenal GlandsAdrenocortical AdenomaAldosteroneCell LineCell ProliferationFemaleG Protein-Coupled Inwardly-Rectifying Potassium ChannelsHumansHyperaldosteronismHyperplasiaHypertensionMaleMutant ProteinsMutationPotassiumProtein MultimerizationSodiumZona GlomerulosaConceptsAldosterone-producing adrenal adenomaSevere hypertensionCell proliferationHormone productionAdrenal aldosterone-producing adenomaBilateral adrenal hyperplasiaSubset of patientsAldosterone-producing adenomaAdrenal glomerulosa cellsAdrenal adenomaAldosterone productionEndocrine tumorsGlomerulosa cellsAdrenal hyperplasiaRecurrent somatic mutationsCalcium entryKCNJ5 mutationsHypertensionCell depolarizationHereditary hypertensionChannel mutationsSomatic mutationsAdenomasMendelian formsSodium conductance
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 population