2014
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors
Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Åkerström G, Björklund P, Carling T, Lifton RP. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nature Genetics 2014, 46: 613-617. PMID: 24747643, PMCID: PMC4074779, DOI: 10.1038/ng.2956.Peer-Reviewed Original ResearchAdolescentAdrenal Gland NeoplasmsAdultAgedAmino Acid SequenceBase SequenceCdc42 GTP-Binding ProteinCell ProliferationCyclic AMP-Dependent Protein Kinase Catalytic SubunitsCyclin-Dependent Kinase Inhibitor p16DNA Copy Number VariationsExomeFemaleGene DeletionGene DosageHEK293 CellsHumansHydrocortisoneMaleMiddle AgedMolecular Sequence DataMutationPhosphorylationSequence Analysis, DNASequence Homology, Amino Acid
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