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Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.
Kostova EB, Beuger BM, Veldthuis M, van der Werff Ten Bosch J, Kühnle I, van den Akker E, van den Berg TK, van Zwieten R, van Bruggen R. Kostova EB, et al. Among authors: van den akker e, van den berg tk, van zwieten r, van der werff ten bosch j, van bruggen r. Exp Hematol. 2015 Dec;43(12):1072-1076.e2. doi: 10.1016/j.exphem.2015.08.007. Epub 2015 Aug 28. Exp Hematol. 2015. PMID: 26320718 Free article. Clinical Trial.
MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization.
Sprenkeler EGG, Henriet SSV, Tool ATJ, Kreft IC, van der Bijl I, Aarts CEM, van Houdt M, Verkuijlen PJJH, van Aerde K, Jaspers G, van Heijst A, Koole W, Gardeitchik T, Geissler J, de Boer M, Tol S, Bruggeman CW, van Alphen FPJ, Verhagen HJMP, van den Akker E, Janssen H, van Bruggen R, van den Berg TK, Liem KD, Kuijpers TW. Sprenkeler EGG, et al. Among authors: van den akker e, van der bijl i, van houdt m, van heijst a, van den berg tk, van bruggen r, van alphen fpj, van aerde k. Blood. 2020 Jun 11;135(24):2171-2181. doi: 10.1182/blood.2019002633. Blood. 2020. PMID: 32128589 Free article.
Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1.
Aarts CEM, Karampini E, Wüst T, Webbers S, Varga E, Geissler J, Voorberg J, von Lindern M, Bierings R, van den Akker E, Kuijpers TW. Aarts CEM, et al. Among authors: van den akker e. Stem Cell Res. 2021 Jul;54:102444. doi: 10.1016/j.scr.2021.102444. Epub 2021 Jun 23. Stem Cell Res. 2021. PMID: 34182253 Free article.
415 results