Citations for
1ASXL1, ASXL2, ASXL3, BAP1
BAP1/ASXL1 recruitment and activation for H2A deubiquitination.
Sahtoe DD, van Dijk WJ, Ekkebus R, Ovaa H, Sixma TK.
Nat Commun 7:10292. doi: 10.1038/ncomms10292. 2016
2ASXL1, ASXL2, ASXL3
Unlike ASXL1 and ASXL2 mutations, ASXL3 mutations are rare events in acute myeloid leukemia with t(8;21).
Duployez N, Micol JB, Boissel N, Petit A, Geffroy S, Bucci M, Lapillonne H, Renneville A, Leverger G, Ifrah N, Dombret H, Abdel-Wahab O, Jourdan E, Preudhomme C.
Leuk Lymphoma 57(1):199-200. doi: 10.3109/10428194.2015.1037754. No abstract available. 2016
3ASXL1
Dynamic ASXL1 Exon Skipping and Alternative Circular Splicing in Single Human Cells.
Koh W, Gonzalez V, Natarajan S, Carter R, Brown PO, Gawad C.
PLoS One 11(10):e0164085. doi: 10.1371/journal.pone.0164085. 2016
4ASXL1, BOPS
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D.
Am J Med Genet A 170A(1):24-31. doi: 10.1002/ajmg.a.37418. 2016
5ASXL1, 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
6ASXL1, 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
7ASXL1, ASXL2, BAP1
The BAP1/ASXL2 Histone H2A Deubiquitinase Complex Regulates Cell Proliferation and Is Disrupted in Cancer.
Daou S, Hammond-Martel I, Mashtalir N, Barbour H, Gagnon J, Iannantuono NV, Nkwe NS, Motorina A, Pak H, Yu H, Wurtele H, Milot E, Mallette FA, Carbone M, Affar el B.
J Biol Chem 290(48):28643-63. doi: 10.1074/jbc.M115.661553. 2015
8ASXL1, CDKN2B
Tumor suppressor ASXL1 is essential for the activation of INK4B expression in response to oncogene activity and anti-proliferative signals.
Wu X, Bekker-Jensen IH, Christensen J, Rasmussen KD, Sidoli S, Qi Y, Kong Y, Wang X, Cui Y, Xiao Z, Xu G, Williams K, Rappsilber J, Sønderby CK, Winther O, Jensen ON, Helin K.
Cell Res 25(11):1205-18. doi: 10.1038/cr.2015.121. 2015
9ASXL1
Role of Asxl1 in kidney podocyte development via its interaction with Wtip.
Moon S, Um SJ, Kim EJ.
Biochem Biophys Res Commun 466(3):560-6. doi: 10.1016/j.bbrc.2015.09.077. 2015
10ASXL1, TET2
Mutations of ASXL1 and TET2 in aplastic anemia.
Huang J, Ge M, Lu S, Shi J, Li X, Zhang J, Wang M, Yu W, Shao Y, Huang Z, Zhang J, Nie N, Zheng Y.
Haematologica 100(5):e172-5. doi: 10.3324/haematol.2014.120931. No abstract available. 2015
11ASXL1, 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
12ASXL1, ASXL2
Additional sex combs-like family genes are required for normal cardiovascular development.
McGinley AL, Li Y, Deliu Z, Wang QT.
Genesis 52(7):671-86. doi: 10.1002/dvg.22793. 2014
13ASXL1, ASXL2, NR1H3
Reciprocal regulation of LXRα activity by ASXL1 and ASXL2 in lipogenesis.
Park UH, Seong MR, Kim EJ, Hur W, Kim SW, Yoon SK, Um SJ.
Biochem Biophys Res Commun 443(2):489-94. doi: 10.1016/j.bbrc.2013.11.124. 2014
14ASXL1
Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice.
Wang J, Li Z, He Y, Pan F, Chen S, Rhodes S, Nguyen L, Yuan J, Jiang L, Yang X, Weeks O, Liu Z, Zhou J, Ni H, Cai CL, Xu M, Yang FC.
Blood 123(4):541-53. doi: 10.1182/blood-2013-05-500272. 2014
15ASXL1, ASXL3, BOPS, BRPS
Expanding our knowledge of conditions associated with the ASXL gene family.
Russell B, Graham JM Jr.
Genome Med 5(2):16. doi: 10.1186/gm420. 2013
16ASXL1
Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo.
Abdel-Wahab O, Gao J, Adli M, Dey A, Trimarchi T, Chung YR, Kuscu C, Hricik T, Ndiaye-Lobry D, Lafave LM, Koche R, Shih AH, Guryanova OA, Kim E, Li S, Pandey S, Shin JY, Telis L, Liu J, Bhatt PK, Monette S, Zhao X, Mason CE, Park CY, Bernstein BE, Aifantis I, Levine RL.
J Exp Med 210(12):2641-59. doi: 10.1084/jem.20131141. 2013
17ASXL1, BOPS
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
Magini P, Monica MD, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M.
Am J Med Genet A 158A(4):917-21. doi: 10.1002/ajmg.a.35265. Epub 2012 Mar 14. 2012
18ASXL1, TET2
Role of TET2 and ASXL1 mutations in the pathogenesis of myeloproliferative neoplasms.
Abdel-Wahab O, Tefferi A, Levine RL.
Hematol Oncol Clin North Am 26(5):1053-64. doi: 10.1016/j.hoc.2012.07.006. Review. 2012
19ASXL1, SOX2
Positive regulation of additional sex comb-like 1 gene expression by the pluripotency factor SOX2.
Kang M, Lee SW, Kim EJ, Um SJ.
Biochem Biophys Res Commun 421(3):621-6. doi: 10.1016/j.bbrc.2012.04.072. 2012
20ASXL1
ASXL1 mutations in primary and secondary myelofibrosis.
Ricci C, Spinelli O, Salmoiraghi S, Finazzi G, Carobbio A, Rambaldi A.
Br J Haematol 156(3):404-7. doi: 10.1111/j.1365-2141.2011.08865.x. No abstract available. 2012
21ASXL1, ASXL2, ASXL3
Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}.
Park UH, Yoon SK, Park T, Kim EJ, Um SJ.
J Biol Chem 286(2):1354-63. Epub 2010 Nov 3. 2011
22ASXL1, BAP1, HCFC1
The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma.
Bott M, Brevet M, Taylor BS, Shimizu S, Ito T, Wang L, Creaney J, Lake RA, Zakowski MF, Reva B, Sander C, Delsite R, Powell S, Zhou Q, Shen R, Olshen A, Rusch V, Ladanyi M.
Nat Genet 43(7):668-72. doi: 10.1038/ng.855. 2011
23ASXL1, BOPS
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB.
Nat Genet 43(8):729-31. doi: 10.1038/ng.868. 2011
24ASXL1, CBX5, KDM1A
ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1.
Lee SW, Cho YS, Na JM, Park UH, Kang M, Kim EJ, Um SJ.
J Biol Chem 285(1):18-29. Epub 2009 Oct 31.PMID: 19880879 2010
25ASXL1
Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia.
Boultwood J, Perry J, Pellagatti A, Fernandez-Mercado M, Fernandez-Santamaria C, Calasanz MJ, Larrayoz MJ, Garcia-Delgado M, Giagounidis A, Malcovati L, Della Porta MG, Jädersten M, Killick S, Hellström-Lindberg E, Cazzola M, Wainscoat JS.
Leukemia 24(5):1062-5. Epub 2010 Feb 25. No abstract available. PMID: 2018246 2010
26ASXL1
Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia.
Fisher CL, Pineault N, Brookes C, Helgason CD, Ohta H, Bodner C, Hess JL, Humphries RK, Brock HW.
Blood 115(1):38-46. Epub 2009 Oct 27.PMID: 19861679 2010
27ASXL1
Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations.
Chou WC, Huang HH, Hou HA, Chen CY, Tang JL, Yao M, Tsay W, Ko BS, Wu SJ, Huang SY, Hsu SC, Chen YC, Huang YN, Chang YC, Lee FY, Liu MC, Liu CW, Tseng MH, Huang CF, Tien HF.
Blood 116(20):4086-94. Epub 2010 Aug 6. 2010
28ASXL1, PAX5
Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21.
An Q, Wright SL, Moorman AV, Parker H, Griffiths M, Ross FM, Davies T, Harrison CJ, Strefford JC.
Haematologica 94(8):1164-9. Epub 2009 Jul 7.PMID: 19586940 2009
29ASXL1
Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.
Gelsi-Boyer V, Trouplin V, Adélaïde J, Bonansea J, Cervera N, Carbuccia N, Lagarde A, Prebet T, Nezri M, Sainty D, Olschwang S, Xerri L, Chaffanet M, Mozziconacci MJ, Vey N, Birnbaum D.
Br J Haematol 145(6):788-800. Epub 2009 Apr 15.PMID: 19388938 2009
30ASXL1, ASXL2, ASXL3
Characterization of Asxl1, a murine homolog of Additional sex combs, and analysis of the Asx-like gene family.
Fisher CL, Randazzo F, Humphries RK, Brock HW.
Gene 369:109-18. Epub 2006 Jan 18.PMID: 16412590 2006
31ASXL3, ASXL1, ASXL2
Identification and characterization of ASXL3 gene in silico.
Katoh M, Katoh M.
Int J Oncol 24(6):1617-22. 2004
32ASXL1, ASXL2
Identification and characterization of ASXL2 gene in silico.
Katoh M, Katoh M.
Int J Oncol 23(3):845-50. 2003
33AKAP2, AMOTL2, ANKRD6, ARSG, ASXL1, ATG4B, BAHD1, BIRC6, BTBD3, C6orf84, CAMK2A, CAMKK2, CARD8, CHSY1, CORO2A, CPEB3, DIP2C, DLGAP4, DNAJC16, DNAJC9, DZIP1, EFR3B, EXOC6B, FAIM2, FASTKD2, FNBP4, INPP5F, LRCH1, NLGN4Y, NLRP1, NRXN2, PADI2, PCNX, PDS5B, PLEKHA6, PSD3, R3HDM2, RPH3A, SBNO2, SEZ6L, STK38L, TBC1D30, THOC5, TLL2, USP20, ZBTB1, ZFP30
Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A,Kotani H, Nomura N, Ohara O.
DNA Res 6(1):63-70. 1999