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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: meeths m. 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.
Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome.
Chan CB, Abe M, Hashimoto N, Hao C, Williams IR, Liu X, Nakao S, Yamamoto A, Zheng C, Henter JI, Meeths M, Nordenskjold M, Li SY, Hara-Nishimura I, Asano M, Ye K. Chan CB, et al. Among authors: meeths m. Proc Natl Acad Sci U S A. 2009 Jan 13;106(2):468-73. doi: 10.1073/pnas.0809824105. Epub 2008 Dec 23. Proc Natl Acad Sci U S A. 2009. PMID: 19106291 Free PMC article.
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.
Wood SM, Meeths M, Chiang SC, Bechensteen AG, Boelens JJ, Heilmann C, Horiuchi H, Rosthøj S, Rutynowska O, Winiarski J, Stow JL, Nordenskjöld M, Henter JI, Ljunggren HG, Bryceson YT. Wood SM, et al. Among authors: meeths m. Blood. 2009 Nov 5;114(19):4117-27. doi: 10.1182/blood-2009-06-225359. Epub 2009 Aug 24. Blood. 2009. PMID: 19704116 Free article.
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
Meeths M, Entesarian M, Al-Herz W, Chiang SC, Wood SM, Al-Ateeqi W, Almazan F, Boelens JJ, Hasle H, Ifversen M, Lund B, van den Berg JM, Gustafsson B, Hjelmqvist H, Nordenskjöld M, Bryceson YT, Henter JI. Meeths M, et al. Blood. 2010 Oct 14;116(15):2635-43. doi: 10.1182/blood-2010-05-282541. Epub 2010 Jun 17. Blood. 2010. PMID: 20558610 Free article.
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M, Ciambotti B, Brugnolo F, zur Stadt U, Pende D, Moretta L, Griffiths GM, Henter JI, Janka G, Aricò M. Sieni E, et al. Among authors: meeths m. J Med Genet. 2011 May;48(5):343-52. doi: 10.1136/jmg.2010.085456. Epub 2011 Jan 19. J Med Genet. 2011. PMID: 21248318 Free PMC article.
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
Meeths M, Chiang SC, Wood SM, Entesarian M, Schlums H, Bang B, Nordenskjöld E, Björklund C, Jakovljevic G, Jazbec J, Hasle H, Holmqvist BM, Rajic L, Pfeifer S, Rosthøj S, Sabel M, Salmi TT, Stokland T, Winiarski J, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI, Bryceson YT. Meeths M, et al. Blood. 2011 Nov 24;118(22):5783-93. doi: 10.1182/blood-2011-07-369090. Epub 2011 Sep 19. Blood. 2011. PMID: 21931115 Free article.
36 results