| 1 | DDDFD, MN1, PBX1, PKNOX1, ZBTB24
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| Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
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| Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K, Matsumoto N.
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| Am J Hum Genet 106(1):13-25. doi: 10.1016/j.ajhg.2019.11.011. Epub 2019 Dec 12.
2020
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| 2 | PBX1
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| Exon sequencing reveals that missense mutation of PBX1 gene may increase the risk of non-syndromic cleft lip/palate.
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| Ma J, Yin B, Shi JY, Lin YS, Duan SJ, Shi B, Jia ZL.
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| Int J Clin Exp Pathol 12(7):2691-2698. eCollection 2019.
2019
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| 3 | CAKUTHED, PBX1
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| Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
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| Alankarage D, Szot JO, Pachter N, Slavotinek A, Selleri L, Shieh JT, Winlaw D, Giannoulatou E, Chapman G, Dunwoodie SL.
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| Hum Mol Genet um Mol Genet. 2019 Oct 18. pii: ddz231. doi: 10.1093/hmg/ddz231. [Epub ahead of print]
2019
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| 4 | PBX1, USP9X
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| Inhibition of the deubiquitinase USP9x induces pre-B cell homeobox 1 (PBX1) degradation and thereby stimulates prostate cancer cell apoptosis.
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| Liu Y, Xu X, Lin P, He Y, Zhang Y, Cao B, Zhang Z, Sethi G, Liu J, Zhou X, Mao X.
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| J Biol Chem 294(12):4572-4582. doi: 10.1074/jbc.RA118.006057. Epub 2019 Feb 4.
2019
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| 5 | PBX1
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| PBX1 promotes the cell proliferation via JAK2/STAT3 signaling in clear cell renal carcinoma.
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| Wei X, Yu L, Li Y.
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| Biochem Biophys Res Commun 500(3):650-657. doi: 10.1016/j.bbrc.2018.04.127. Epub 2018 Apr 26.
2018
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| 6 | PBX1
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| Face morphogenesis is promoted by Pbx-dependent EMT via regulation of Snail1 during frontonasal prominence fusion.
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| Losa M, Risolino M, Li B, Hart J, Quintana L, Grishina I, Yang H, Choi IF, Lewicki P, Khan S, Aho R, Feenstra J, Vincent CT, Brown AMC, Ferretti E, Williams T, Selleri L.
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| Development 145(5). pii: dev157628. doi: 10.1242/dev.157628.
2018
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| 7 | PBX1, PKNOX1
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| New Insights into Cooperative Binding of Homeodomain Transcription Factors PREP1 and PBX1 to DNA.
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| Zucchelli C, Ferrari E, Blasi F, Musco G, Bruckmann C.
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| Sci Rep 7:40665. doi: 10.1038/srep40665.
2017
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| 8 | CAKUTHED, PBX1
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| Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
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| Heidet L, Moriničre V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C.
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| J Am Soc Nephrol 28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31.
2017
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| 9 | CAKUTHED, PBX1
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| PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
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| Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF, Bosson C, Dieterich K, Jaillard S, Odent S, Poke G, Beddow R, Digilio MC, Novelli A, Bernardini L, Pisanti MA, Mackenroth L, Hackmann K, Vogel I, Christensen R, Fokstuen S, Béna F, Amblard F, Devillard F, Vieville G, Apostolou A, Jouk PS, Guebre-Egziabher F, Sartelet H, Coutton C.
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| J Med Genet 54(7):502-510. doi: 10.1136/jmedgenet-2016-104435. Epub 2017 Mar 7.
2017
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| 10 | CAKUTHED, PBX1
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| De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
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| Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J.
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| Hum Mol Genet 26(24):4849-4860. doi: 10.1093/hmg/ddx363.
2017
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| 11 | PBX1
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| A PBX1 transcriptional network controls dopaminergic neuron development and is impaired in Parkinson's disease.
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| Villaescusa JC, Li B, Toledo EM, Rivetti di Val Cervo P, Yang S, Stott SR, Kaiser K, Islam S, Gyllborg D, Laguna-Goya R, Landreh M, Lönnerberg P, Falk A, Bergman T, Barker RA, Linnarsson S, Selleri L, Arenas E.
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| EMBO J 35(18):1963-78. doi: 10.15252/embj.201593725. Epub 2016 Jun 28.
2016
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| 12 | MEIS2, PBX1
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| Pbx1 is required for adult subventricular zone neurogenesis.
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| Grebbin BM, Hau AC, Groß A, Anders-Maurer M, Schramm J, Koss M, Wille C, Mittelbronn M, Selleri L, Schulte D.
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| Development 143(13):2281-91. doi: 10.1242/dev.128033. Epub 2016 May 25.
2016
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| 13 | PBX1, PTBP1
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| The splicing regulator PTBP1 controls the activity of the transcription factor Pbx1 during neuronal differentiation.
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| Linares AJ, Lin CH, Damianov A, Adams KL, Novitch BG, Black DL.
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| Elife 4:e09268. doi: 10.7554/eLife.09268.
2015
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| 14 | PBX1
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| Pbx1-dependent control of VMC differentiation kinetics underlies gross renal vascular patterning.
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| Hurtado R, Zewdu R, Mtui J, Liang C, Aho R, Kurylo C, Selleri L, Herzlinger D.
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| Development 142(15):2653-64. doi: 10.1242/dev.124776. Epub 2015 Jul 2.
2015
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| 15 | FGF10, PBX1
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| Pbx1 activates Fgf10 in the mesenchyme of developing lungs.
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| Li W, Lin CY, Shang C, Han P, Xiong Y, Lin CJ, Yang J, Selleri L, Chang CP.
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| Genesis 52(5):399-407. doi: 10.1002/dvg.22764. Epub 2014 Mar 14.
2014
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| 16 | MEIS1, PBX1, PKNOX1
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| Prep1 and Meis1 competition for Pbx1 binding regulates protein stability and tumorigenesis.
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| Dardaei L, Longobardi E, Blasi F.
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| Proc Natl Acad Sci U S A 111(10):E896-905. doi: 10.1073/pnas.1321200111. Epub 2014 Feb 27.
2014
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| 17 | PBX1
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| Pbx1 restrains myeloid maturation while preserving lymphoid potential in hematopoietic progenitors.
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| Ficara F, Crisafulli L, Lin C, Iwasaki M, Smith KS, Zammataro L, Cleary ML.
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| J Cell Sci 126(Pt 14):3181-91. doi: 10.1242/jcs.125435. Epub 2013 May 9.
2013
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| 18 | MEIS1, PBX1, PKNOX1
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| Characterization of TALE genes expression during the first lineage segregation in mammalian embryos.
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| Sonnet W, Rezsöhazy R, Donnay I.
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| Dev Dyn 241(11):1827-39. doi: 10.1002/dvdy.23873. Epub 2012 Oct 10.
2012
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| 19 | EPHA7, PBX1
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| Transcriptional mechanisms of EphA7 gene expression in the developing cerebral cortex.
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| Pietri S, Dimidschstein J, Tiberi L, Sotiropoulou PA, Bilheu A, Goffinet A, Achouri Y, Tissir F, Blanpain C, Jacquemin P, Vanderhaeghen P.
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| Cereb Cortex 22(7):1678-89. doi: 10.1093/cercor/bhr245. Epub 2011 Sep 21.
2012
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| 20 | MEIS1, PBX1, SOX3
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| PBX1 and MEIS1 up-regulate SOX3 gene expression by direct interaction with a consensus binding site within the basal promoter region.
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| Mojsin M, Stevanovic M.
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| Biochemical Journal 425 2010
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| 21 | PBX1
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| Essential role for Pbx1 in corneal morphogenesis.
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| Murphy MJ, Polok BK, Schorderet DF, Cleary ML.
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| Invest Ophthalmol Vis Sci. 51(2):795-803. 2010
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| 22 | HOXA10, PBX1
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| Pbx1 represses osteoblastogenesis by blocking Hoxa10-mediated recruitment of chromatin remodeling factors.
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| Gordon JA, Hassan MQ, Saini S, Montecino M, van Wijnen AJ, Stein GS, Stein JL, Lian JB.
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| Mol Cell Biol 30(14):3531-41. Epub 2010 May 3. 2010
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| 23 | MEIS3, PBX1
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| Three-amino-acid-loop-extension homeodomain factor Meis3 regulates cell survival via PDK1.
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| Liu J, Wang Y, Birnbaum MJ, Stoffers DA.
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| Proc Natl Acad Sci U S A 107(47):20494-9. Epub 2010 Nov 8. 2010
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| 24 | PBX1
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| Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.
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| Cheung CL, Chan BY, Chan V, Ikegawa S, Kou I, Ngai H, Smith D, Luk KD, Huang QY, Mori S, Sham PC, Kung AW.
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| Hum Mol Genet 18(4):679-87. Epub 2008 Dec 8.
2009
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| 25 | MECOM, PBX1
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| Pbx1 is a downstream target of Evi-1 in hematopoietic stem/progenitors and leukemic cells.
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| Shimabe M, Goyama S, Watanabe-Okochi N, Yoshimi A, Ichikawa M, Imai Y, Kurokawa M.
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| Oncogene 28(49):4364-74. Epub .PMID: 19767769 2009
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| 26 | EWSR1, PBX1
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| Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma.
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| Brandal P, Panagopoulos I, Bjerkehagen B, Gorunova L, Skjeldal S, Micci F, Heim S.
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| Genes Chromosomes Cancer 47(7):558-64. 2008
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| 27 | PBX1
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| Identification of Pbx1, a potential oncogene, as a Notch3 target gene in ovarian cancer.
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| Park JT, Shih IeM, Wang TL.
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| Cancer Res 68(21):8852-60.
2008
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| 28 | MEIS1, PBX1, PBX2, PBX3
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| Pbx/Meis deficiencies demonstrate multigenetic origins of congenital heart disease.
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| Stankunas K, Shang C, Twu KY, Kao SC, Jenkins NA, Copeland NG, Sanyal M, Selleri L, Cleary ML, Chang CP.
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| Circ Res 103(7):702-9. Epub 2008 Aug 21.PMID: 18723445 2008
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| 29 | PBX1, PBX2
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| Pbx1/Pbx2 govern axial skeletal development by controlling Polycomb and Hox in mesoderm and Pax1/Pax9 in sclerotome.
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| Capellini TD, Zewdu R, Di Giacomo G, Asciutti S, Kugler JE, Di Gregorio A, Selleri L.
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| Dev Biol 321(2):500-14. Epub 2008 Apr 16.PMID: 18691704 2008
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| 30 | PBX1, TCF3
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| Characterisation of genomic translocation breakpoints and identification of an alternative TCF3/PBX1 fusion transcript in t(1;19)(q23;p13)-positive acute lymphoblastic leukaemias.
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| Paulsson K, Jonson T, Ora I, Olofsson T, Panagopoulos I, Johansson B.
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| Br J Haematol 138(2):196-201.
2007
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| 31 | PBX1, PBX2, PBX3, PBX4
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| Pbx homeodomain proteins pattern both the zebrafish retina and tectum.
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| French CR, Erickson T, Callander D, Berry KM, Koss R, Hagey DW, Stout J, Wuennenberg-Stapleton K, Ngai J, Moens CB, Waskiewicz AJ.
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| BMC Dev Biol 7:85.
2007
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| 32 | PBX1, TCF3
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| Critical role for a single leucine residue in leukemia induction by E2A-PBX1.
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| Bayly R, Murase T, Hyndman BD, Savage R, Nurmohamed S, Munro K, Casselman R, Smith SP, LeBrun DP.
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| Mol Cell Biol 26(17):6442-52.
2006
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| 33 | PBX1, PKNOX1
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| Activin regulation of the follicle-stimulating hormone beta-subunit gene involves Smads and the TALE homeodomain proteins Pbx1 and Prep1.
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| Bailey JS, Rave-Harel N, McGillivray SM, Coss D, Mellon PL.
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| Mol Endocrinol 18(5):1158-70. Epub 2004 Feb 5.
2004
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| 34 | MEIS1, PBX1, PBX2, PF4
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| Homeodomain proteins MEIS1 and PBXs regulate the lineage-specific transcription of the platelet factor 4 gene.
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| Okada Y, Nagai R, Sato T, Matsuura E, Minami T, Morita I, Doi T.
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| Blood 101(12):4748-56. Epub 2003 Feb 27. 2003
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| 35 | PBX1
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| Cross-talk between glucocorticoid and retinoic acid signals involving glucocorticoid receptor interaction with the homoeodomain protein Pbx1.
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| Subramaniam N, Campión J, Rafter I, Okret S.
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| Biochem J. 370(Pt 3):1087-95. 2003
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| 36 | PBX1
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| HoxB8 requires its Pbx-interaction motif to block differentiation of primary myeloid progenitors and of most cell line models of myeloid differentiation.
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| Knoepfler PS, Sykes DB, Pasillas M, Kamps MP.
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| Oncogene. 20(39):5440-8. 2001
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| 37 | PBX1
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| Requirement for Pbx1 in skeletal patterning and programming chondrocyte proliferation and differentiation.
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| Selleri L, Depew MJ, Jacobs Y, Chanda SK, Tsang KY, Cheah KS, Rubenstein JL, O'Gorman S, Cleary ML.
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| Development. 128(18):3543-57. 2001
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| 38 | PBX1
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| Pbx1 inactivation disrupts pancreas development and in Ipf1-deficient mice promotes diabetes mellitus.
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| Kim SK, Selleri L, Lee JS, Zhang AY, Gu X, Jacobs Y, Cleary ML.
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| Nature Genet. 30(4):430-5. 2001
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| 39 | AMLT2, NUP98, PBX1
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| NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15).
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| Nakamura T, et al.
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| Blood 94(2):741-7 1999
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| 40 | PBX1
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| Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation.
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| Piper DE, Batchelor AH, Chang CP, Cleary ML, Wolberger C.
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| Cell. 96(4):587-97. 1999
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| 41 | PBX1
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| PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins.
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| Shanmugam K, Green NC, Rambaldi I, Saragovi HU, Featherstone MS.
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| Mol Cell Biol. 19(11):7577-88. 1999
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| 42 | HLF, PBX1, TCF3, TFPT
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| Identification of a novel molecular partner of the E2A gene in childhood leukemia.
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| Brambillasca F, Mosna G, Colombo M, Rivolta A, Caslini C, Minuzzo M, Giudici G, Mizzi L, Biondi A, Privitera E.
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| Leukemia. 13(3):369-75. 1999
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| 43 | CSF3R, PBX1, TCF3
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| The gene encoding the granulocyte colony-stimulating factor receptor is a target for deregulation in pre-B ALL by the t(1;19)-specific oncoprotein E2A-Pbx1.
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| de Lau WB, Hurenkamp J, Berendes P, Touw IP, Clevers HC, van Dijk MA.
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| Oncogene 17 : 503-510. 1998
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| 44 | PBX1
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| The novel homeoprotein Prep1 modulates Pbx-Hox protein cooperativity.
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| Berthelsen J, Zappavigna V, Ferretti E, Mavilio F, Blasi F.
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| EMBO J. 17(5):1434-45. 1998
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| 45 | NOTCH1,NOTCH4,PBX1,PBX2,PBX3,RXRA,RXRB,RXRG
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| Paralogy mapping : identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci.
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| Katsanis N, et al.
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| Genomics 35 : 101-108. 1996
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| 46 | PBX1
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| Structural determinants within Pbx1 that mediate cooperative DNA binding with pentapeptide-containing Hox proteins: proposal for a model of a Pbx1-Hox-DNA complex.
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| Lu Q, Kamps MP.
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| Mol Cell Biol 16(4):1632-40.
1996
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| 47 | PBX1, TCF3
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| New E2A/PBX1 fusion transcript in a patient with t(1;19)(q23;p13) acute lymphoblastic leukemia.
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| Numata SI, et al.
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| Leukemia 7 : 1441-1444. 1993
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| 48 | PBX1
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| Extradenticle, a regulator of homeotic gene activity, is a homolog of the homeobox-containing human proto-oncogene pbx1.
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| Rauskolb C, et al.
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| Cell 74 : 1101-1112. 1993
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| 49 | TCF3, PBX1
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| Unexpected heterogeneity in E2A/PBX1 fusion messenger RNA detected by the polymerase chain reaction in pediatric patients with acute lymphoblastic leukemia.
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| Izraeli S, et al.
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| Blood 80 : 1413-1417. 1992
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| 50 | PBX1
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| The human t(1;19) translocation in pre-B ALL produces multiple nuclear E2A-Pbx1 fusion proteins with differing transforming potentials.
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| Kamps MP, et al.
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| Genes Dev 5 : 358-368. 1991
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| 51 | TCF3, PBX1
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| The t(1;19)(q23;p13) results in consistent fusion of E2A and PBX1 coding sequences in acute lymphoblastic leukemias.
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| Hunger SP, et al.
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| Blood 77 : 687-693. 1991
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| 52 | PBX1
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| Specific in vitro amplified probe detects the E2A gene rearrangement in the t(1;19) acute lymphoblastic leukemia.
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| Jonveaux P, et al.
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| Leukemia 4 : 808-810. 1990
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| 53 | PBX1
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| Molecular analysis of the t(1;19) breakpoint cluster region in pre-B cell acute lymphoblastic leukemias.
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| Mellentin JD, et al.
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| Genes Chromosomes Cancer 2 : 239-247. 1990
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| 54 | PBX1, TCF3
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| A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in Pre-B ALL.
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| Kamps MP, et al.
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| Cell 60 : 547-555. 1990
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| 55 | PBX1
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| Chromosomal translocation t(1;19) results in synthesis of a homeobox fusion mRNA that codes for a potential chimeric transcription factor.
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| Nourse J, et al.
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| Cell 60 : 535-545. 1990
|