2014
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, Gertz EM, Schäffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchałka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, Brandes G, Sherkat R, van der Werff ten Bosch J, Rezaei N, Etzioni A, Bellanné-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nature Genetics 2014, 46: 1021-1027. PMID: 25129144, PMCID: PMC4829076, DOI: 10.1038/ng.3069.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultApoptosisCell DifferentiationCell SurvivalChildChild, PreschoolCongenital Bone Marrow Failure SyndromesFemaleGlycosylationHomeostasisHumansInfantInfant, NewbornMaleMembrane ProteinsMutationMyeloid CellsNeutropeniaNeutrophilsReceptors, Granulocyte Colony-Stimulating FactorSignal TransductionYoung Adult
2008
Protein kinase D2 regulates chromogranin A secretion in human BON neuroendocrine tumour cells
von Wichert G, Edenfeld T, von Blume J, Krisp H, Krndija D, Schmid H, Oswald F, Lother U, Walther P, Adler G, Seufferlein T. Protein kinase D2 regulates chromogranin A secretion in human BON neuroendocrine tumour cells. Cellular Signalling 2008, 20: 925-934. PMID: 18262756, DOI: 10.1016/j.cellsig.2008.01.003.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceBiological Transport, ActiveCell Line, TumorChromogranin AGolgi ApparatusHumansMolecular Sequence DataNeuroendocrine TumorsProtein Kinase D2Protein Kinase InhibitorsProtein KinasesRNA, Small InterferingSecretory VesiclesSignal TransductionTrans-Golgi NetworkConceptsTrans-Golgi networkNeuroendocrine tumor cellsGolgi networkFunctional neuroendocrine tumorsProtein kinase D (PKD) familyGolgi apparatusProtein kinase D2Secretory granulesTumor cellsSerine-threonine kinaseHormone secretionNeuroendocrine tumorsChromogranin APerinuclear retentionThreonine kinaseSecretory vesiclesPrecise regulationAutonomous hormone secretionD family