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
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