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Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS.
Zinngrebe J, Moepps B, Monecke T, Gierschik P, Schlichtig F, Barth TFE, Strauß G, Boldrin E, Posovszky C, Schulz A, Beringer O, Rieser E, Jacobsen EM, Lorenz MR, Schwarz K, Pannicke U, Walczak H, Niessing D, Schuetz C, Fischer-Posovszky P, Debatin KM. Zinngrebe J, et al. Among authors: posovszky c. EMBO Mol Med. 2022 Mar 7;14(3):e14901. doi: 10.15252/emmm.202114901. Epub 2022 Feb 16. EMBO Mol Med. 2022. PMID: 35170849 Free PMC article.
Positive and negative selection shape the human naive B cell repertoire.
Chen JW, Schickel JN, Tsakiris N, Sng J, Arbogast F, Bouis D, Parisi D, Gera R, Boeckers JM, Delmotte FR, Veselits M, Schuetz C, Jacobsen EM, Posovszky C, Schulz AS, Schwarz K, Clark MR, Menard L, Meffre E. Chen JW, et al. Among authors: posovszky c. J Clin Invest. 2022 Jan 18;132(2):e150985. doi: 10.1172/JCI150985. J Clin Invest. 2022. PMID: 34813502 Free PMC article.
Novel homozygous AIRE mutation in a German patient with severe APECED.
von Schnurbein J, Lahr G, Posovszky C, Debatin KM, Wabitsch M. von Schnurbein J, et al. Among authors: posovszky c. J Pediatr Endocrinol Metab. 2008 Oct;21(10):1003-9. doi: 10.1515/jpem.2008.21.10.1003. J Pediatr Endocrinol Metab. 2008. PMID: 19209622
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
Stepensky P, Bartram J, Barth TF, Lehmberg K, Walther P, Amann K, Philips AD, Beringer O, Zur Stadt U, Schulz A, Amrolia P, Weintraub M, Debatin KM, Hoenig M, Posovszky C. Stepensky P, et al. Among authors: posovszky c. Pediatr Blood Cancer. 2013 Jul;60(7):1215-22. doi: 10.1002/pbc.24475. Epub 2013 Feb 4. Pediatr Blood Cancer. 2013. PMID: 23382066
81 results