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Homozygous DBF4 mutation as a cause of severe congenital neutropenia.
Willemsen M, Barber JS, Nieuwenhove EV, Staels F, Gerbaux M, Neumann J, Prezzemolo T, Pasciuto E, Lagou V, Boeckx N, Filtjens J, De Visscher A, Matthys P, Schrijvers R, Tousseyn T, O'Driscoll M, Bucciol G, Schlenner S, Meyts I, Humblet-Baron S, Liston A. Willemsen M, et al. Among authors: barber js. J Allergy Clin Immunol. 2023 Jul;152(1):266-277. doi: 10.1016/j.jaci.2023.02.016. Epub 2023 Feb 24. J Allergy Clin Immunol. 2023. PMID: 36841265 Free article.
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
Van Nieuwenhove E, Barber JS, Neumann J, Smeets E, Willemsen M, Pasciuto E, Prezzemolo T, Lagou V, Seldeslachts L, Malengier-Devlies B, Metzemaekers M, Haßdenteufel S, Kerstens A, van der Kant R, Rousseau F, Schymkowitz J, Di Marino D, Lang S, Zimmermann R, Schlenner S, Munck S, Proost P, Matthys P, Devalck C, Boeckx N, Claessens F, Wouters C, Humblet-Baron S, Meyts I, Liston A. Van Nieuwenhove E, et al. Among authors: barber js. J Allergy Clin Immunol. 2020 Nov;146(5):1180-1193. doi: 10.1016/j.jaci.2020.03.034. Epub 2020 Apr 20. J Allergy Clin Immunol. 2020. PMID: 32325141 Free PMC article.
Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects.
Neumann J, Van Nieuwenhove E, Terry LE, Staels F, Knebel TR, Welkenhuyzen K, Ahmadzadeh K, Baker MR, Gerbaux M, Willemsen M, Barber JS, Serysheva II, De Waele L, Vermeulen F, Schlenner S, Meyts I, Yule DI, Bultynck G, Schrijvers R, Humblet-Baron S, Liston A. Neumann J, et al. Among authors: barber js. Cell Mol Immunol. 2023 Jan;20(1):11-25. doi: 10.1038/s41423-022-00928-4. Epub 2022 Oct 27. Cell Mol Immunol. 2023. PMID: 36302985 Free PMC article.
Author Correction: Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects.
Neumann J, Van Nieuwenhove E, Terry LE, Staels F, Knebel TR, Welkenhuyzen K, Ahmadzadeh K, Baker MR, Gerbaux M, Willemsen M, Barber JS, Serysheva II, De Waele L, Vermeulen F, Schlenner S, Meyts I, Yule DI, Bultynck G, Schrijvers R, Humblet-Baron S, Liston A. Neumann J, et al. Among authors: barber js. Cell Mol Immunol. 2023 Jan;20(1):114. doi: 10.1038/s41423-022-00960-4. Cell Mol Immunol. 2023. PMID: 36471115 Free PMC article. No abstract available.
73 results