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Numrering	Referens	Omslagsbild	Hitta
1.	Flesch, BK, et al. (författare) Multicenter Study on Differential Human Neutrophil Antigen 2 Expression and Underlying Molecular Mechanisms 2020 Ingår i: Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie. - : S. Karger AG. - 1660-3796. ; 47:5, s. 385-395 Tidskriftsartikel (refereegranskat)abstract <b><i>Background:</i></b> The human neutrophil antigen 2 (HNA-2), which is expressed on CD177, is undetectable in 3–5% of the normal population. Exposure of these HNA-2<sub>null</sub> individuals to HNA-2-positive cells can cause immunization and production of HNA-2 antibodies, which can induce immune neutropenia and transfusion-related acute lung injury. In HNA-2-positive individuals, neutrophils are divided into a CD177<sup>pos.</sup> and a CD177<sup>neg.</sup> subpopulation. The molecular background of HNA-2 deficiency and the bimodal expression pattern, however, are not completely decoded. <b><i>Study Design:</i></b> An international collaboration was conducted on the genetic analysis of HNA-2-phenotyped blood samples, including HNA-2-deficient individuals, mothers, and the respective children with neonatal immune neutropenia and regular blood donors. <b><i>Results:</i></b> From a total of 54 HNA-2<sub>null</sub> individuals, 43 were homozygous for the <i>CD177</i><i>787A>T</i> substitution. Six carried the <i>CD177</i><i>c.1291G>A</i> single nucleotide polymorphism. All HNA-2-positive samples with >40% CD177<sup>pos.</sup> neutrophils carried the <i>787A</i> wild-type allele, whereas a lower rate of CD177<sup>pos.</sup> neutrophils was preferentially associated with <i>c.787AT</i> heterozygosity. Interestingly, only the <i>c.787A</i> allele sequence was detected in complementary DNA (cDNA) sequence analysis carried out on all <i>c.787AT</i> heterozygous individuals. However, cDNA analysis after sorting of CD177<sup>pos.</sup> and CD177<sup>neg.</sup> neutrophil subsets from HNA-2-positive individuals showed identical sequences, which makes regulatory elements within the promoter unlikely to affect <i>CD177</i> gene transcription in different CD177 neutrophil subsets. <b><i>Conclusion:</i></b> This comprehensive study clearly demonstrates the impact of single nucleotide polymorphisms on the expression of HNA-2 on the neutrophil surface but challenges the hypothesis of regulatory epigenetic effects being implicated in the bimodal CD177 expression pattern.
2.	Rygiel, AM, et al. (författare) Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene 2022 Ingår i: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. - : Elsevier BV. - 1424-3911. ; 22:5, s. 564-571 Tidskriftsartikel (refereegranskat)
3.	Tóth, A, et al. (författare) Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis 2022 Ingår i: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. - 1424-3911. ; 22:6, s. 713-718 Tidskriftsartikel (refereegranskat)
4.	Toth, A, et al. (författare) Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis 2022 Ingår i: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. - : Elsevier BV. - 1424-3911. ; 22:6, s. 713-718 Tidskriftsartikel (refereegranskat)

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Resultat 1-4 av 4

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Typ av publikation: tidskriftsartikel (4)

Typ av innehåll: refereegranskat (4)

Författare/redaktör: Bugert, P (4); Lindgren, F (3); Witt, H (3); Ewers, M. (3); Rosendahl, J (3); Hegyi, P (3); visa fler...; Sahin-Toth, M (3); Oracz, G. (3); Laumen, H (3); Ploski, R (3); Gluszek, S (3); Parniczky, A (3); Hegyi, E (3); Rygiel, AM (3); Unger, LS (3); Gambin, T (3); Koziel, D (3); Lohr, JM (2); Tóth, Á. (2); Masson, E. (1); Tanaka, Y. (1); Matsumoto, R. (1); Chen, JM (1); Hoglund, P (1); Löhr, JM (1); Ferec, C (1); Ratcliffe, P (1); Rebours, V (1); Reil, A (1); Sasaki, A (1); Nogues, N (1); Porcelijn, L (1); Hamada, S. (1); Flesch, BK (1); Canals, C (1); Schulze, TJ (1); Huiskes, E (1); Schonbacher, M (1); Kerchrom, H (1); Kellershohn, J (1); Bayat, B (1); Masamune, A (1); Sorgel, FL (1); Buscail, L (1); Winiewska-Szajewska, ... (1); Mianowska, A (1); Poznanski, J (1); Kosinska, J (1); Stawinski, P (1); Orekhova, A (1); visa färre...

Lärosäte: Karolinska Institutet (4)

Språk: Engelska (4)

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