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Items: 1 to 20 of 109

1.

Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.

De Vita S, Mulligan C, McElwaine S, Dagna-Bricarelli F, Spinelli M, Basso G, Nizetic D, Groet J.

Br J Haematol. 2007 May;137(4):337-41.

PMID:
17456055
2.

Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.

Sato T, Toki T, Kanezaki R, Xu G, Terui K, Kanegane H, Miura M, Adachi S, Migita M, Morinaga S, Nakano T, Endo M, Kojima S, Kiyoi H, Mano H, Ito E.

Br J Haematol. 2008 May;141(5):681-8. doi: 10.1111/j.1365-2141.2008.07081.x. Epub 2008 Apr 7.

PMID:
18397343
3.

Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis.

Roy A, Roberts I, Norton A, Vyas P.

Br J Haematol. 2009 Oct;147(1):3-12. doi: 10.1111/j.1365-2141.2009.07789.x. Epub 2009 Jul 6. Review.

PMID:
19594743
4.

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.

Nikolaev SI, Santoni F, Vannier A, Falconnet E, Giarin E, Basso G, Hoischen A, Veltman JA, Groet J, Nizetic D, Antonarakis SE.

Blood. 2013 Jul 25;122(4):554-61. doi: 10.1182/blood-2013-03-491936. Epub 2013 Jun 3.

5.

Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome.

Xu G, Nagano M, Kanezaki R, Toki T, Hayashi Y, Taketani T, Taki T, Mitui T, Koike K, Kato K, Imaizumi M, Sekine I, Ikeda Y, Hanada R, Sako M, Kudo K, Kojima S, Ohneda O, Yamamoto M, Ito E.

Blood. 2003 Oct 15;102(8):2960-8. Epub 2003 Jun 19.

6.

Natural history of GATA1 mutations in Down syndrome.

Ahmed M, Sternberg A, Hall G, Thomas A, Smith O, O'Marcaigh A, Wynn R, Stevens R, Addison M, King D, Stewart B, Gibson B, Roberts I, Vyas P.

Blood. 2004 Apr 1;103(7):2480-9. Epub 2003 Dec 4.

7.

Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome.

Greene ME, Mundschau G, Wechsler J, McDevitt M, Gamis A, Karp J, Gurbuxani S, Arceci R, Crispino JD.

Blood Cells Mol Dis. 2003 Nov-Dec;31(3):351-6.

PMID:
14636651
8.

Increased dosage of the chromosome 21 ortholog Dyrk1a promotes megakaryoblastic leukemia in a murine model of Down syndrome.

Malinge S, Bliss-Moreau M, Kirsammer G, Diebold L, Chlon T, Gurbuxani S, Crispino JD.

J Clin Invest. 2012 Mar;122(3):948-62. doi: 10.1172/JCI60455. Epub 2012 Feb 22.

9.

Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker.

McElwaine S, Mulligan C, Groet J, Spinelli M, Rinaldi A, Denyer G, Mensah A, Cavani S, Baldo C, Dagna-Bricarelli F, Hann I, Basso G, Cotter FE, Nizetic D.

Br J Haematol. 2004 Jun;125(6):729-42.

PMID:
15180862
10.

Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21.

Rainis L, Bercovich D, Strehl S, Teigler-Schlegel A, Stark B, Trka J, Amariglio N, Biondi A, Muler I, Rechavi G, Kempski H, Haas OA, Izraeli S.

Blood. 2003 Aug 1;102(3):981-6. Epub 2003 Mar 20.

11.

A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL.

Haemmerling S, Behnisch W, Doerks T, Korbel JO, Bork P, Moog U, Hentze S, Grasshoff U, Bonin M, RieƟ O, Janssen JW, Jauch A, Bartram CR, Reinhardt D, Koch KA, Bandapalli OR, Kulozik AE.

Br J Haematol. 2012 Apr;157(2):180-7. doi: 10.1111/j.1365-2141.2012.09028.x. Epub 2012 Feb 1.

PMID:
22296450
12.

Description of a novel Janus kinase 3 P132A mutation in acute megakaryoblastic leukemia and demonstration of previously reported Janus kinase 3 mutations in normal subjects.

Riera L, Lasorsa E, Bonello L, Sismondi F, Tondat F, Di Bello C, Di Celle PF, Chiarle R, Godio L, Pich A, Facchetti F, Ponzoni M, Marmont F, Zanon C, Bardelli A, Inghirami G.

Leuk Lymphoma. 2011 Sep;52(9):1742-50. doi: 10.3109/10428194.2011.574757. Epub 2011 May 23.

13.
14.

Molecular lesions in childhood and adult acute megakaryoblastic leukaemia.

Hama A, Muramatsu H, Makishima H, Sugimoto Y, Szpurka H, Jasek M, O'Keefe C, Takahashi Y, Sakaguchi H, Doisaki S, Shimada A, Watanabe N, Kato K, Kiyoi H, Naoe T, Kojima S, Maciejewski JP.

Br J Haematol. 2012 Feb;156(3):316-25. doi: 10.1111/j.1365-2141.2011.08948.x. Epub 2011 Nov 28.

PMID:
22122069
15.

Activating mutations in human acute megakaryoblastic leukemia.

Malinge S, Ragu C, Della-Valle V, Pisani D, Constantinescu SN, Perez C, Villeval JL, Reinhardt D, Landman-Parker J, Michaux L, Dastugue N, Baruchel A, Vainchenker W, Bourquin JP, Penard-Lacronique V, Bernard OA.

Blood. 2008 Nov 15;112(10):4220-6. doi: 10.1182/blood-2008-01-136366. Epub 2008 Aug 28.

16.

Activating alleles of JAK3 in acute megakaryoblastic leukemia.

Walters DK, Mercher T, Gu TL, O'Hare T, Tyner JW, Loriaux M, Goss VL, Lee KA, Eide CA, Wong MJ, Stoffregen EP, McGreevey L, Nardone J, Moore SA, Crispino J, Boggon TJ, Heinrich MC, Deininger MW, Polakiewicz RD, Gilliland DG, Druker BJ.

Cancer Cell. 2006 Jul;10(1):65-75.

17.

Development of acute megakaryoblastic leukemia from a minor clone in a Down syndrome patient with clinically overt transient myeloproliferative disorder.

Xu G, Kato K, Toki T, Takahashi Y, Terui K, Ito E.

J Pediatr Hematol Oncol. 2006 Oct;28(10):696-8.

PMID:
17023834
18.

Integrated differential transcriptome maps of Acute Megakaryoblastic Leukemia (AMKL) in children with or without Down Syndrome (DS).

Pelleri MC, Piovesan A, Caracausi M, Berardi AC, Vitale L, Strippoli P.

BMC Med Genomics. 2014 Dec 5;7:63. doi: 10.1186/s12920-014-0063-z.

19.

The landscape of somatic mutations in Down syndrome-related myeloid disorders.

Yoshida K, Toki T, Okuno Y, Kanezaki R, Shiraishi Y, Sato-Otsubo A, Sanada M, Park MJ, Terui K, Suzuki H, Kon A, Nagata Y, Sato Y, Wang R, Shiba N, Chiba K, Tanaka H, Hama A, Muramatsu H, Hasegawa D, Nakamura K, Kanegane H, Tsukamoto K, Adachi S, Kawakami K, Kato K, Nishimura R, Izraeli S, Hayashi Y, Miyano S, Kojima S, Ito E, Ogawa S.

Nat Genet. 2013 Nov;45(11):1293-9. doi: 10.1038/ng.2759. Epub 2013 Sep 22. Erratum in: Nat Genet. 2013 Dec;45(12):1516.

PMID:
24056718
20.

Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder.

Cushing T, Clericuzio CL, Wilson CS, Taub JW, Ge Y, Reichard KK, Winter SS.

J Pediatr. 2006 May;148(5):687-9.

PMID:
16737888

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