1 | DEL5QMD, RPS14
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| Acquired ribosomopathies in leukemia and solid tumors
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| Vlachos A.
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| Hematology Am Soc Hematol Educ Program. Dec 8;2017(1):716-719. doi: 10.1182/asheducation-2017.1.716. 2017
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2 | DEL5QMD, RPS14
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| Rps14 haploinsufficiency causes a block in erythroid differentiation mediated by S100A8 and S100A9
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| Schneider RK, Schenone M, Ferreira MV, Kramann R, Joyce CE, Hartigan C, Beier F, Brümmendorf TH, Germing U, Platzbecker U, Büsche G, Knüchel R, Chen MC, Waters CS, Chen E, Chu LP, Novina CD, Lindsley RC, Carr SA, Ebert BL.
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| Nat Med. Mar;22(3):288-97. doi: 10.1038/nm.4047. Epub 2016 Feb 15. 2016
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3 | DEL5QMD, RPS14
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| The molecular pathogenesis of the myelodysplastic syndromes
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| Pellagatti A, Boultwood J.
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| Eur J Haematol. Jul;95(1):3-15. doi: 10.1111/ejh.12515. Epub 2015 Feb 20. 2015
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4 | DEL5QMD, TIRAP, TRAF6
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| Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype.
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| Starczynowski DT, Kuchenbauer F, Argiropoulos B, Sung S, Morin R, Muranyi A, Hirst M, Hogge D, Marra M, Wells RA, Buckstein R, Lam W, Humphries RK, Karsan A.
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| Nat Med 16(1):49-58. Epub 2009 Nov 8.
2010
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5 | DEL5QMD, P53
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| A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome.
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| Barlow JL, Drynan LF, Hewett DR, Holmes LR, Lorenzo-Abalde S, Lane AL, Jolin HE, Pannell R, Middleton AJ, Wong SH, Warren AJ, Wainscoat JS, Boultwood J, McKenzie AN.
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| Nat Med 16(1):59-66. Epub 2009 Nov 22.
2010
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6 | RPS14, DEL5QMD
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| Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
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| Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, Raza A, Root DE, Attar E, Ellis SR, Golub TR.
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| Nature 451(7176):335-9. 2008
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7 | CTNNA1, DEL5QMD
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| Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation.
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| Liu TX, Becker MW, Jelinek J, Wu WS, Deng M, Mikhalkevich N, Hsu K, Bloomfield CD, Stone RM, DeAngelo DJ, Galinsky IA, Issa JP, Clarke MF, Look AT.
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| Nat Med 13(1):78-83. Epub 2006 Dec 10. 2007
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8 | DEL5QMD
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| Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH.
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| Evers C, Beier M, Poelitz A, Hildebrandt B, Servan K, Drechsler M, Germing U, Royer HD, Royer-Pokora B.
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| Genes Chromosomes Cancer 46(12):1119-28. 2007
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9 | C5orf4, DCTN4, DEL5QMD, FAM114A2, TNIP1
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| Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs.
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| Boultwood J, Fidler C, Strickson AJ, Watkins F, Kostrzewa M, Jaju RJ,Muller U, Wainscoat JS.
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| Genomics 66(1):26-34. 2000
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10 | DEL5QMD
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| Hematological features of patients with myelodysplastic syndromes associated with a chromosome 5q deletion.
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| Lewis S, Oscier D, Boultwood J, Ross F, Fitchett M, Rack K, Abrahamson G, Buckle V, Wainscoat JS.
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| Am J Hematol 49(3):194-200. 1995
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