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
2010
Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10. Science 2010, 330: 94-97. PMID: 20798280, PMCID: PMC3085938, DOI: 10.1126/science.1192280.Peer-Reviewed Original ResearchAmino Acid SequenceCell NucleolusChromosome MappingChromosomes, Human, Pair 17FemaleFrameshift MutationHumansIchthyosiform Erythroderma, CongenitalIntermediate FilamentsKeratin-10KeratinsLoss of HeterozygosityMaleMitosisMolecular Sequence DataMosaicismMutant ProteinsRecombination, GeneticSelection, GeneticSkin