2017
Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma
Scholl UI, Abriola L, Zhang C, Reimer EN, Plummer M, Kazmierczak BI, Zhang J, Hoyer D, Merkel JS, Wang W, Lifton RP. Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma. Journal Of Clinical Investigation 2017, 127: 2739-2750. PMID: 28604387, PMCID: PMC5490757, DOI: 10.1172/jci91733.Peer-Reviewed Original ResearchConceptsAldosterone-producing adenomaAldosterone productionAdrenocortical cancer cell lineKCNJ5 potassium channelPotassium channel KCNJ5Motilin receptor agonistSteroid hormone aldosteroneMillions of casesAPA diagnosisCancer cell linesSevere hypertensionAdrenal glandReceptor agonistBenign tumorsHormone aldosteroneCalcium influxInvasive proceduresKCNJ5 mutationsAdrenocortical cellsNoninvasive diagnosisPotassium channelsMembrane depolarizationDiagnosisCell proliferationCell lines
2014
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nature Genetics 2014, 46: 1135-1139. PMID: 25217960, PMCID: PMC4177367, DOI: 10.1038/ng.3066.Peer-Reviewed Original Research