医中誌リンクサービス


文献リスト

1)Osato M, Asou N, Abdalla E, et al. Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2 alphaB gene associated with myeloblastic leukemias. Blood. 1999; 93(6): 1817-24
PubMed
医中誌リンクサービス
2)Song WJ, Sullivan MG, Legare RD, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999; 23(2): 166-75
PubMed CrossRef
医中誌リンクサービス
3)Sanada M, Suzuki T, Shih LY, et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature. 2009; 460(7257): 904-8
PubMed CrossRef
医中誌リンクサービス
4)Muramatsu H, Makishima H, Jankowska AM, et al. Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. Blood. 2010; 115(10): 1969-75
PubMed CrossRef
医中誌リンクサービス
5)Niemeyer CM, Kang MW, Shin DH, et al. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet. 2010; 42(9): 794-800
PubMed CrossRef
医中誌リンクサービス
6)Gomez-Segui I, Makishima H, Jerez A, et al. Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies. Leukemia. 2013; 27(9): 1943-6
PubMed CrossRef
医中誌リンクサービス
7)Aoki Y, Niihori T, Banjo T, et al. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013; 93(1): 173-80
PubMed CrossRef
医中誌リンクサービス
8)Schinzel A, Giedion A. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet. 1978; 1(4): 361-75
PubMed CrossRef
医中誌リンクサービス
9)Rodriguez JI, Jimenez-Heffernan JA, Leal J. Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. Am J Med Genet. 1994; 53(4): 374-7
PubMed CrossRef
医中誌リンクサービス
10)Hoischen A, van Bon BW, Gilissen C, et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010; 42(6): 483-5
PubMed CrossRef
医中誌リンクサービス
11)Minakuchi M, Kakazu N, Gorrin-Rivas MJ, et al. Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. Eur J Biochem. 2001; 268(5): 1340-51
PubMed CrossRef
医中誌リンクサービス
12)Panagopoulos I, Kerndrup G, Carlsen N, et al. Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12). Br J Haematol. 2007; 136(2): 294-6
PubMed CrossRef
医中誌リンクサービス
13)Goyama S, Yamamoto G, Shimabe M, et al. Evi-1 is a critical regulator for hematopoietic stem cells and transformed leukemic cells. Cell Stem Cell. 2008; 3(2): 207-20
PubMed CrossRef
医中誌リンクサービス
14)Cristobal I, Blanco FJ, Garcia-Orti L, et al. SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia. Blood. 2010; 115(3): 615-25
PubMed CrossRef
医中誌リンクサービス
15)Piazza R, Valletta S, Winkelmann N, et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet. 2013; 45(1): 18-24
PubMed
医中誌リンクサービス
16)Sakaguchi H, Okuno Y, Muramatsu H, et al. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. Nat Genet. 2013; 45(8): 937-41
PubMed CrossRef
医中誌リンクサービス
17)Makishima H, Yoshida K, Nguyen N, et al. Somatic SETBP1 mutations in myeloid malignancies. Nat Genet. 2013; 45(8): 942-6
PubMed CrossRef
医中誌リンクサービス
18)Damm F, Itzykson R, Kosmider O, et al. SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias. Leukemia. 2013; 27(6): 1401-3
PubMed CrossRef
医中誌リンクサービス
19)Laborde RR, Patnaik MM, Lasho TL, et al. SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia (CMML): independent prognostic impact in CMML. Leukemia. 2013; 27(10): 2100-2
PubMed CrossRef
医中誌リンクサービス
20)Pardanani A, Lasho TL, Laborde RR, et al. CS F3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia. 2013; 27(9): 1870-3
PubMed CrossRef
医中誌リンクサービス
21)Meggendorfer M, Bacher U, Alpermann T, et al. SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. Leukemia. 2013; 27(9): 1852-60
PubMed CrossRef
医中誌リンクサービス
22)Thol F, Josef Suchanek K, Koenecke C, et al. SETBP1 mutation analysis in 944 patients with MDS and AML. Leukemia. 2013; 27(10): 2072-5
PubMed CrossRef
医中誌リンクサービス
23)Fernandez-Mercado M, Pellagatti A, Di Genua C, et al. Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. Br J Haematol. 2013; 163(2): 235-9
PubMed
医中誌リンクサービス
24)Makishima H, Jankowska AM, McDevitt MA, et al. CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia. Blood. 2011; 117(21): e198-206
PubMed CrossRef
医中誌リンクサービス
25)Oakley K, Han Y, Vishwakarma BA, et al. Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10. Blood. 2012; 119(25): 6099-108
PubMed CrossRef
医中誌リンクサービス
26)Cohen SB, Zheng G, Heyman HC, et al. Heterodimers of the SnoN and Ski oncoproteins form preferentially over homodimers and are more potent transforming agents. Nucleic Acids Res. 1999; 27(4): 1006-14
PubMed CrossRef
医中誌リンクサービス


NPO医学中央雑誌刊行会
https://www.jamas.or.jp/
info@jamas.or.jp