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Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT. Tesi B, et al. Among authors: cammenga j. Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15. Blood. 2017. PMID: 28202457 Free PMC article.
Expression of P190 and P210 BCR/ABL1 in normal human CD34(+) cells induces similar gene expression profiles and results in a STAT5-dependent expansion of the erythroid lineage.
Järås M, Johnels P, Agerstam H, Lassen C, Rissler M, Edén P, Cammenga J, Olofsson T, Bjerrum OW, Richter J, Fan X, Fioretos T. Järås M, et al. Among authors: cammenga j. Exp Hematol. 2009 Mar;37(3):367-75. doi: 10.1016/j.exphem.2008.11.003. Epub 2009 Jan 9. Exp Hematol. 2009. PMID: 19135771 Free article.
Ataxia-pancytopenia syndrome with SAMD9L mutations.
Gorcenco S, Komulainen-Ebrahim J, Nordborg K, Suo-Palosaari M, Andréasson S, Krüger J, Nilsson C, Kjellström U, Rahikkala E, Turkiewicz D, Karlberg M, Nilsson L, Cammenga J, Tedgård U, Davidsson J, Uusimaa J, Puschmann A. Gorcenco S, et al. Among authors: cammenga j. Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852709 Free PMC article.
Agonistic targeting of TLR1/TLR2 induces p38 MAPK-dependent apoptosis and NFκB-dependent differentiation of AML cells.
Eriksson M, Peña-Martínez P, Ramakrishnan R, Chapellier M, Högberg C, Glowacki G, Orsmark-Pietras C, Velasco-Hernández T, Lazarević VL, Juliusson G, Cammenga J, Mulloy JC, Richter J, Fioretos T, Ebert BL, Järås M. Eriksson M, et al. Among authors: cammenga j. Blood Adv. 2017 Oct 18;1(23):2046-2057. doi: 10.1182/bloodadvances.2017006148. eCollection 2017 Oct 24. Blood Adv. 2017. PMID: 29296851 Free PMC article.
74 results