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A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
Tesi B, Rascon J, Chiang SCC, Burnyte B, Löfstedt A, Fasth A, Heizmann M, Juozapaite S, Kiudeliene R, Kvedaraite E, Miseviciene V, Muleviciene A, Müller ML, Nordenskjöld M, Matuzeviciene R, Samaitiene R, Speckmann C, Stankeviciene S, Zekas V, Voss M, Ehl S, Vaiciene-Magistris N, Henter JI, Meeths M, Bryceson YT. Tesi B, et al. Among authors: henter ji. J Allergy Clin Immunol. 2018 Jul;142(1):317-321.e8. doi: 10.1016/j.jaci.2018.02.031. Epub 2018 Mar 6. J Allergy Clin Immunol. 2018. PMID: 29522846 Free PMC article. No abstract available.
Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines.
Karpova MB, Schoumans J, Blennow E, Ernberg I, Henter JI, Smirnov AF, Nordenskjöld M, Fadeel B. Karpova MB, et al. Among authors: henter ji. Int J Oncol. 2006 Mar;28(3):605-17. Int J Oncol. 2006. PMID: 16465364
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG. Bryceson YT, et al. Among authors: henter ji. Blood. 2007 Sep 15;110(6):1906-15. doi: 10.1182/blood-2007-02-074468. Epub 2007 May 24. Blood. 2007. PMID: 17525286 Free PMC article.
260 results