Citations for
1CSF3R, SETBP1
Mutated SETBP1 activates transcription of Myc programs to accelerate CSF3R-driven myeloproliferative neoplasms
Carratt SA, Kong GL, Curtiss BM, Schonrock Z, Maloney L, Maniaci BN, Blaylock HZ, Baris A, Druker BJ, Braun TP, Maxson JE
Blood. Aug 11;140(6):644-658. doi: 10.1182/blood.2021014777. 2022
2SETBP1, TRIM29, VEZF1
TRIM29 regulates the SETBP1/SET/PP2A axis via transcription factor VEZF1 to promote progression of ovarian cancer
Qiao HY, Zhang Q, Wang JM, Jiang JY, Huyan LY, Yan J, Li C, Wang HQ.
Cancer Lett. Mar 31;529:85-99. doi: 10.1016/j.canlet.2021.12.029. Epub 2021 Dec 29. 2022
3MRD29, SETBP1, SGDS
Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development
Antonyan L, Ernst C.
Front Neurosci. May 24;16:813430. doi: 10.3389/fnins.2022.813430. 2022
4MRD29, SETBP1
Clinical delineation of SETBP1 haploinsufficiency disorder.
Jansen NA, Braden RO, Srivastava S, Otness EF, Lesca G, Rossi M, Nizon M, Bernier RA, Quelin C, van Haeringen A, Kleefstra T, Wong MMK, Whalen S, Fisher SE, Morgan AT, van Bon BW.
Eur J Hum Genet. Aug;29(8):1198-1205. doi: 10.1038/s41431-021-00888-9. Epub 2021 Apr 19. 2021
5SETBP1, XPO1
Interaction with XPO1 is essential for SETBP1 to induce myeloid transformation. 2019 PMID:
Nguyen N, Oakley K, Han Y, Kwok M, Crouch G, Du Y.
Leukemia Nov;33(11):2758-2762. doi: 10.1038/s41375-019-0521-x. Epub 2019 Jul 23. 2019
6SETBP1, SGDS
SETBP1 dysregulation in congenital disorders and myeloid neoplasms.
Coccaro N, Tota G, Zagaria A, Anelli L, Specchia G, Albano F.
Oncotarget. Apr 19;8(31):51920-51935. doi: 10.18632/oncotarget.17231. 2017
7SETBP1, SGDS
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW.
PLoS Genet. Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar. 2017
8MYB, SETBP1
Myb expression is critical for myeloid leukemia development induced by Setbp1 activation.
Nguyen N, Vishwakarma BA, Oakley K, Han Y, Przychodzen B, Maciejewski JP, Du Y.
Oncotarget ncotarget. 2016 Nov 16. doi: 10.18632/oncotarget.13383. [Epub ahead of print] 2016
9SETBP1, SGDS
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T.
Eur J Med Genet 58(8):369-71. doi: 10.1016/j.ejmg.2015.05.006. Epub 2015 Jun 19. 2015
10ASXL1, SETBP1
ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia.
Elliott MA, Pardanani A, Hanson CA, Lasho TL, Finke CM, Belachew AA, Tefferi A.
Am J Hematol 90(7):653-6. doi: 10.1002/ajh.24031. 2015
11ASXL1, SETBP1
SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS.
Inoue D, Kitaura J, Matsui H, Hou HA, Chou WC, Nagamachi A, Kawabata KC, Togami K, Nagase R, Horikawa S, Saika M, Micol JB, Hayashi Y, Harada Y, Harada H, Inaba T, Tien HF, Abdel-Wahab O, Kitamura T.
Leukemia 29(4):847-57. doi: 10.1038/leu.2014.301. Epub 2014 Oct 13. 2015
12ASXL1, CSF3R, SETBP1
ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia.
Elliott MA, Pardanani A, Hanson CA, Lasho TL, Finke CM, Belachew AA, Tefferi A.
Am J Hematol 90(7):653-6. doi: 10.1002/ajh.24031. 2015
13SETBP1
Somatic SETBP1 mutations in myeloid malignancies.
Makishima H, Yoshida K, Nguyen N, Przychodzen B, Sanada M, Okuno Y, Ng KP, Gudmundsson KO, Vishwakarma BA, Jerez A, Gomez-Segui I, Takahashi M, Shiraishi Y, Nagata Y, Guinta K, Mori H, Sekeres MA, Chiba K, Tanaka H, Muramatsu H, Sakaguchi H, Paquette RL, McDevitt MA, Kojima S, Saunthararajah Y, Miyano S, Shih LY, Du Y, Ogawa S, Maciejewski JP.
Nat Genet 45(8):942-6. doi: 10.1038/ng.2696. Epub 2013 Jul 7. 2013
14SETBP1
SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML.
Laborde RR, Patnaik MM, Lasho TL, Finke CM, Hanson CA, Knudson RA, Ketterling RP, Pardanani A, Tefferi A.
Leukemia 27(10):2100-2. doi: 10.1038/leu.2013.97. Epub 2013 Apr 5. No abstract available. 2013
15SETBP1
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia
Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, Antolini L, Mologni L, Donadoni C, Papaemmanuil E, Schnittger S, Kim DW, Boultwood J, Rossi F, Gaipa G, De Martini GP, di Celle PF, Jang HG, Fantin V, Bignell GR, Magistroni V, Haferlach T, Pogliani EM, Campbell PJ, Chase AJ, Tapper WJ, Cross NC, Gambacorti-Passerini C.
Nat Genet. Jan;45(1):18-24. doi: 10.1038/ng.2495. Epub 2012 Dec 9. 2013
16MRD29, SETBP1
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
Marseglia G, Scordo MR, Pescucci C, Nannetti G, Biagini E, Scandurra V, Gerundino F, Magi A, Benelli M, Torricelli F.
Eur J Med Genet 55(3):216-21. doi: 10.1016/j.ejmg.2012.01.005. Epub 2012 Jan 25. 2012
17SETBP1, SGDS
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.
Suphapeetiporn K, Srichomthong C, Shotelersuk V.
Clin Genet 79(4):391-3. doi: 10.1111/j.1399-0004.2010.01552.x. No abstract available. 2011
18SETBP1, SGDS
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T.
J Med Genet 48(2):117-22. Epub 2010 Oct 30. 2011
19MRD29, SETBP1
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T.
J Med Genet 48(2):117-22. doi: 10.1136/jmg.2010.084582. Epub 2010 Oct 30. 2011
20SETBP1, SGDS
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA.
Nat Genet 42(6):483-5. Epub 2010 May 2.PMID: 20436468 2010
21SETBP1, NUP98
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).
Panagopoulos I, Kerndrup G, Carlsen N, Stršmbeck B, Isaksson M, Johansson B.
Br J Haematol 136(2):294-6. 2007
22SETBP1
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1.
Ott MG, Schmidt M, Schwarzwaelder K, Stein S, Siler U, Koehl U, Glimm H, KŸhlcke K, Schilz A, Kunkel H, Naundorf S, Brinkmann A, Deichmann A, Fischer M, Ball C, Pilz I, Dunbar C, Du Y, Jenkins NA, Copeland NG, LŸthi U, Hassan M, Thrasher AJ, Hoelzer D, von Kalle C, Seger R, Grez M.
Nat Med 12(4):401-9. Epub 2006 Apr 2. 2006
23SETBP1
Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.
Minakuchi M, Kakazu N, Gorrin-Rivas MJ, Abe T, Copeland TD, Ueda K, Adachi Y.
Eur J Biochem 268(5):1340-51. 2001
24SETBP1
Mapping of the human gene for the alpha-NAC/1.9.2 (NACA/1.9.2) transcriptional coactivator to chromosome 12q23-24.1.
Yotov WV, et al.
Mamm Genome 7 : 163-164. 1996
25NACA, SETBP1
Differential splicing-in of a proline-rich exon converts alphaNAC into a muscle-specific transcription factor.
Yotov WV, et al.
Genes Dev 10 : 1763-1772. 1996