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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.
Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.
van Bruggen R, Bautista JM, Petropoulou T, de Boer M, van Zwieten R, Gómez-Gallego F, Belohradsky BH, Hartwig NG, Stevens D, Mason PJ, Roos D. van Bruggen R, et al. Among authors: van zwieten r. Blood. 2002 Aug 1;100(3):1026-30. doi: 10.1182/blood.v100.3.1026. Blood. 2002. PMID: 12130518 Free article.
Natural history and early diagnosis of LAD-1/variant syndrome.
Kuijpers TW, van Bruggen R, Kamerbeek N, Tool AT, Hicsonmez G, Gurgey A, Karow A, Verhoeven AJ, Seeger K, Sanal O, Niemeyer C, Roos D. Kuijpers TW, et al. Among authors: van bruggen r. Blood. 2007 Apr 15;109(8):3529-37. doi: 10.1182/blood-2006-05-021402. Epub 2006 Dec 21. Blood. 2007. PMID: 17185466 Free article. Clinical Trial.
Complement receptor 3 and Toll-like receptor 4 act sequentially in uptake and intracellular killing of unopsonized Salmonella enterica serovar Typhimurium by human neutrophils.
van Bruggen R, Zweers D, van Diepen A, van Dissel JT, Roos D, Verhoeven AJ, Kuijpers TW. van Bruggen R, et al. Among authors: van dissel jt, van diepen a. Infect Immun. 2007 Jun;75(6):2655-60. doi: 10.1128/IAI.01111-06. Epub 2007 Mar 12. Infect Immun. 2007. PMID: 17353285 Free PMC article.
Toll-like receptor responses in IRAK-4-deficient neutrophils.
van Bruggen R, Drewniak A, Tool AT, Jansen M, van Houdt M, Geissler J, van den Berg TK, Chapel H, Kuijpers TW. van Bruggen R, et al. Among authors: van houdt m, van den berg tk. J Innate Immun. 2010;2(3):280-7. doi: 10.1159/000268288. Epub 2009 Dec 16. J Innate Immun. 2010. PMID: 20375545 Free article.
162 results