Citations for
1ASPR, SF3B1, SLC25A38
Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.
Cazzola M, Malcovati L.
Hematology Am Soc Hematol Educ Program. ;2015:19-25. doi: 10.1182/asheducation-2015.1.19. 2015
2SF3B1
Chronic lymphocytic leukemia with SF3B1 mutation.
Quesada V, Ramsay AJ, Lopez-Otin C.
N Engl J Med 366(26):2530. No abstract available. 2012
3SF3B1
SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts.
Visconte V, Makishima H, Jankowska A, Szpurka H, Traina F, Jerez A, O'Keefe C, Rogers HJ, Sekeres MA, Maciejewski JP, Tiu RV.
Leukemia 26(3):542-5. doi: 10.1038/leu.2011.232. Epub 2011 Sep 2. No abstract available. 2012
4SF3B1, U2AF1
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.
Makishima H, Visconte V, Sakaguchi H, Jankowska AM, Abu Kar S, Jerez A, Przychodzen B, Bupathi M, Guinta K, Afable MG, Sekeres MA, Padgett RA, Tiu RV, Maciejewski JP.
Blood 119(14):3203-10. doi: 10.1182/blood-2011-12-399774. Epub 2012 Feb 9. 2012
5SF3B1, SRSF1, SRSF2, U2AF1, U2AF2, ZRSR2
Frequent pathway mutations of splicing machinery in myelodysplasia.
Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, Sato Y, Sato-Otsubo A, Kon A, Nagasaki M, Chalkidis G, Suzuki Y, Shiosaka M, Kawahata R, Yamaguchi T, Otsu M, Obara N, Sakata-Yanagimoto M, Ishiyama K, Mori H, Nolte F, Hofmann WK, Miyawaki S, Sugano S, Haferlach C, Koeffler HP, Shih LY, Haferlach T, Chiba S, Nakauchi H, Miyano S, Ogawa S.
Nature 478(7367):64-9. doi: 10.1038/nature10496. 2011
6SF3B1
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.
Quesada V, Conde L, Villamor N, Ordóńez GR, Jares P, Bassaganyas L, Ramsay AJ, Beŕ S, Pinyol M, Martínez-Trillos A, López-Guerra M, Colomer D, Navarro A, Baumann T, Aymerich M, Rozman M, Delgado J, Giné E, Hernández JM, González-Díaz M, Puente DA, Velasco G, Freije JM, Tubío JM, Royo R, Gelpí JL, Orozco M, Pisano DG, Zamora J, Vázquez M, Valencia A, Himmelbauer H, Bayés M, Heath S, Gut M, Gut I, Estivill X, López-Guillermo A, Puente XS, Campo E, López-Otín C.
Nat Genet 44(1):47-52. doi: 10.1038/ng.1032. 2011
7SF3B1
Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.
Malcovati L, Papaemmanuil E, Bowen DT, Boultwood J, Della Porta MG, Pascutto C, Travaglino E, Groves MJ, Godfrey AL, Ambaglio I, Gallě A, Da Viŕ MC, Conte S, Tauro S, Keenan N, Hyslop A, Hinton J, Mudie LJ, Wainscoat JS, Futreal PA, Stratton MR, Campbell PJ, Hellström-Lindberg E, Cazzola M; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium and of the Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative.
Blood 118(24):6239-46. doi: 10.1182/blood-2011-09-377275. Epub 2011 Oct 12. 2011
8SF3B1
Phosphorylated SAP155, the spliceosomal component, is localized to chromatin in postnatal mouse testes.
Eto K, Sonoda Y, Jin Y, Abe S.
Biochem Biophys Res Commun 393(4):577-81. Epub 2010 Feb 12. 2010
9PPP1R8, SF3B1
Nuclear inhibitor of protein phosphatase-1 (NIPP1) directs protein phosphatase-1 (PP1) to dephosphorylate the U2 small nuclear ribonucleoprotein particle (snRNP) component, spliceosome-associated protein 155 (Sap155).
Tanuma N, Kim SE, Beullens M, Tsubaki Y, Mitsuhashi S, Nomura M, Kawamura T, Isono K, Koseki H, Sato M, Bollen M, Kikuchi K, Shima H.
J Biol Chem 283(51):35805-14. Epub 2008 Oct 8. 2008
10SF3B1
SAP155 Binds to ceramide-responsive RNA cis-element 1 and regulates the alternative 5' splice site selection of Bcl-x pre-mRNA.
Massiello A, Roesser JR, Chalfant CE.
FASEB J 20(10):1680-2. Epub 2006 Jun 21. 2006
11DYRK1A, SF3B1
The protein kinase DYRK1A phosphorylates the splicing factor SF3b1/SAP155 at Thr434, a novel in vivo phosphorylation site.
de Graaf K, Czajkowska H, Rottmann S, Packman LC, Lilischkis R, Lüscher B, Becker W.
BMC Biochem 7:7. 2006
12SF3B1
Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1.
Isono K, Mizutani-Koseki Y, Komori T, Schmidt-Zachmann MS, Koseki H.
Genes Dev 19(5):536-41. 2005
13PPP1R8, SF3B1
Phosphorylation-dependent interaction between the splicing factors SAP155 and NIPP1.
Boudrez A, Beullens M, Waelkens E, Stalmans W, Bollen M.
J Biol Chem 277(35):31834-41. Epub 2002 Jun 24. 2002
14SF3B1
Phosphorylation of spliceosomal protein SAP 155 coupled with splicing catalysis.
Wang C, Chua K, Seghezzi W, Lees E, Gozani O, Reed R.
Genes Dev 12(10):1409-14. 1998