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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. Blood. 2020 Jun 11;135(24):2171-2181. doi: 10.1182/blood.2019002633. Blood. 2020. PMID: 32128589 Free article.
Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees.
Sprenkeler EGG, Tool ATJ, Kreft IC, van Alphen FPJ; NBR-RD PID Consortium, NIHR BioResource; Seneviratne SL, Maimaris J, Luqmani A, van Leeuwen K, van Bruggen R, Burns SO, Kuijpers TW. Sprenkeler EGG, et al. Br J Haematol. 2020 Dec;191(5):930-934. doi: 10.1111/bjh.17081. Epub 2020 Sep 23. Br J Haematol. 2020. PMID: 32966608 Free article. No abstract available.
Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.
Schim van der Loeff I, Sprenkeler EGG, Tool ATJ, Abinun M, Grainger A, Engelhardt KR, van Houdt M, Janssen H, Kuijpers TW, Hambleton S. Schim van der Loeff I, et al. Among authors: sprenkeler egg. J Allergy Clin Immunol. 2021 Jun;147(6):2381-2385.e2. doi: 10.1016/j.jaci.2020.11.025. Epub 2020 Dec 3. J Allergy Clin Immunol. 2021. PMID: 33279574 Free PMC article.
Neutrophil specific granule and NETosis defects in gray platelet syndrome.
Aarts CEM, Downes K, Hoogendijk AJ, Sprenkeler EGG, Gazendam RP, Favier R, Favier M, Tool ATJ, van Hamme JL, Kostadima MA, Waller K, Zieger B, van Bergen MGJM, Langemeijer SMC, van der Reijden BA, Janssen H, van den Berg TK, van Bruggen R, Meijer AB, Ouwehand WH, Kuijpers TW. Aarts CEM, et al. Among authors: sprenkeler egg. Blood Adv. 2021 Jan 26;5(2):549-564. doi: 10.1182/bloodadvances.2020002442. Blood Adv. 2021. PMID: 33496751 Free PMC article.
14 results