| 1 | GPR39, PAX3, PAX7, PLAGL1
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| Zac1/GPR39 phosphorylating CaMK-II contributes to the distinct roles of Pax3 and Pax7 in myogenic progression.
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| Yang Q, Li Y, Zhang X, Chen D.
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| Biochim Biophys Acta Mol Basis Dis 1864(2):407-419. doi: 10.1016/j.bbadis.2017.10.026. Epub 2017 Nov 2.
2018
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| 2 | PAX3, PAX7
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| SUMOylation of Pax7 is essential for neural crest and muscle development.
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| Luan Z, Liu Y, Stuhlmiller TJ, Marquez J, García-Castro MI.
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| Cell Mol Life Sci 70(10):1793-806. doi: 10.1007/s00018-012-1220-1. Epub 2012 Dec 18.
2013
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| 3 | PAX3, TCOF1
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| Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis.
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| Barlow AJ, Dixon J, Dixon M, Trainor PA.
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| Hum Mol Genet 22(6):1206-17. doi: 10.1093/hmg/dds528. Epub 2013 Jan 2.
2013
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| 4 | MEIS2, PAX3, PAX7
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| Genetic and physical interaction of Meis2, Pax3 and Pax7 during dorsal midbrain development.
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| Agoston Z, Li N, Haslinger A, Wizenmann A, Schulte D.
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| BMC Dev Biol 12:10. doi: 10.1186/1471-213X-12-10.
2012
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| 5 | CSNK2A1, PAX3
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| Identification of CK2 as the kinase that phosphorylates Pax3 at Ser209 in early myogenic differentiation.
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| Iyengar AS, Loupe JM, Miller PJ, Hollenbach AD.
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| Biochem Biophys Res Commun 428(1):24-30. doi: 10.1016/j.bbrc.2012.09.141. Epub 2012 Oct 8.
2012
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| 6 | PAX3
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| Role of Pax3 acetylation in the regulation of Hes1 and Neurog2.
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| Ichi S, Boshnjaku V, Shen YW, Mania-Farnell B, Ahlgren S, Sapru S, Mansukhani N, McLone DG, Tomita T, Mayanil CS.
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| Mol Biol Cell. 22(4):503-12. 2011
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| 7 | GFAP, PAX3
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| Downregulation of Pax3 expression correlates with acquired GFAP expression during NSC differentiation towards astrocytes.
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| Liu Y, Zhu H, Liu M, Du J, Qian Y, Wang Y, Ding F, Gu X.
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| FEBS Lett 585(7):1014-20. Epub 2011 Mar 1.
2011
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| 8 | PAX3
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| Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation.
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| Dietz KN, Miller PJ, Iyengar AS, Loupe JM, Hollenbach AD.
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| Int J Biochem Cell Biol 43(6):936-45. Epub 2011 Mar 31.
2011
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| 9 | NEUROG2, PAX3
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| Role of Pax3 acetylation in the regulation of Hes1 and Neurog2.
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| Ichi S, Boshnjaku V, Shen YW, Mania-Farnell B, Ahlgren S, Sapru S, Mansukhani N, McLone DG, Tomita T, Mayanil CS.
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| Mol Biol Cell 22(4):503-12. Epub 2010 Dec 17.
2011
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| 10 | FOXD3, PAX3
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| Functional interaction between Foxd3 and Pax3 in cardiac neural crest development.
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| Nelms BL, Pfaltzgraff ER, Labosky PA.
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| Genesis 49(1):10-23. doi: 10.1002/dvg.20686. Epub 2010 Dec 22.
2011
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| 11 | PAX3
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| Pax3 is essential for normal cardiac neural crest morphogenesis but is not required during migration nor outflow tract septation.
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| Olaopa M, Zhou HM, Snider P, Wang J, Schwartz RJ, Moon AM, Conway SJ.
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| Dev Biol 356(2):308-22. Epub 2011 May 12.
2011
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| 12 | PAX3
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| Differential PAX3 functions in normal skin melanocytes and melanoma cells.
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| Medic S, Rizos H, Ziman M.
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| Biochem Biophys Res Commun. 411(4):832-7. 2011
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| 13 | PAX3, PAX7
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| Alternate PAX3 and PAX7 C-terminal isoforms in myogenic differentiation and sarcomagenesis.
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| Charytonowicz E, Matushansky I, Castillo-Martin M, Hricik T, Cordon-Cardo C, Ziman M.
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| Clin Transl Oncol 13(3):194-203. doi: 10.1007/s12094-011-0640-y.
2011
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| 14 | MITF, PAX3, SOX10, WS1, WS2A, WS2E, WS3, WS4C
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| Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
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| Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K, Feng Y.
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| Biochem Biophys Res Commun 397(1):70-4. Epub 2010 May 15.PMID: 20478267 2010
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| 15 | DMRT2, MYF5, PAX3
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| A Pax3/Dmrt2/Myf5 regulatory cascade functions at the onset of myogenesis.
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| Sato T, Rocancourt D, Marques L, Thorsteinsdóttir S, Buckingham M.
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| PLoS Genet 6(4):e1000897.
2010
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| 16 | HDAC10, PAX3, TRIM28
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| Histone deacetylase 10 relieves repression on the melanogenic program by maintaining the deacetylation status of repressors.
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| Lai IL, Lin TP, Yao YL, Lin CY, Hsieh MJ, Yang WM.
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| J Biol Chem 285(10):7187-96. Epub 2009 Dec 22.
2010
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| 17 | PAX3
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| Taf1 regulates Pax3 protein by monoubiquitination in skeletal muscle progenitors.
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| Boutet SC, Biressi S, Iori K, Natu V, Rando TA.
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| Mol Cell. 40(5):749-61. 2010
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| 18 | PAX3, TAF1
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| Taf1 regulates Pax3 protein by monoubiquitination in skeletal muscle progenitors.
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| Boutet SC, Biressi S, Iori K, Natu V, Rando TA.
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| Mol Cell 40(5):749-61. doi: 10.1016/j.molcel.2010.09.029.
2010
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| 19 | PAX3
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| Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration.
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| Kozawa M, Kondo H, Tahira T, Hayashi K, Uchio E.
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| Eye (Lond). 23(7):1619-21. 2009
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| 20 | PAX3, PAX7
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| Id3 is a direct transcriptional target of Pax7 in quiescent satellite cells.
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| Kumar D, Shadrach JL, Wagers AJ, Lassar AB.
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| Mol Biol Cell 20(14):3170-7. Epub 2009 May 20.PMID: 19458195 2009
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| 21 | PAX3, PAX7
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| Integrated functions of Pax3 and Pax7 in the regulation of proliferation, cell size and myogenic differentiation.
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| Collins CA, Gnocchi VF, White RB, Boldrin L, Perez-Ruiz A, Relaix F, Morgan JE, Zammit PS.
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| PLoS One 4(2):e4475. Epub 2009 Feb 16.PMID: 19221588 2009
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| 22 | PAX3, TGFB2
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| Transcriptional regulation by Pax3 and TGFbeta2 signaling: a potential gene regulatory network in neural crest development.
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| Nakazaki H, Shen YW, Yun B, Reddy A, Khanna V, Mania-Farnell B, Ichi S, McLone DG, Tomita T, Mayanil CS.
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| Int J Dev Biol 53(1):69-79.
2009
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| 23 | PAX3, FOXO1
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| Effects of PAX3-FKHR on malignant phenotypes in alveolar rhabdomyosarcoma.
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| Kikuchi K, Tsuchiya K, Otabe O, Gotoh T, Tamura S, Katsumi Y, Yagyu S, Tsubai-Shimizu S, Miyachi M, Iehara T, Hosoi H.
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| Biochem Biophys Res Commun 365(3):568-74. Epub 2007 Nov 20. 2008
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| 24 | PAX3, TBX18
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| T-box protein Tbx18 interacts with the paired box protein Pax3 in the development of the paraxial mesoderm.
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| Farin HF, Mansouri A, Petry M, Kispert A.
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| J Biol Chem 283(37):25372-80. Epub 2008 Jul 21.
2008
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| 25 | MITF, PAX3, WS1, WS2A, WS3,
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| The value of MLPA in Waardenburg syndrome.
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| Milunsky JM, Maher TA, Ito M, Milunsky A.
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| Genet Test 11(2):179-82. 2007
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| 26 | PAX3, FOXO1, CDKN1C
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| PAX3-FOXO1 controls expression of the p57Kip2 cell-cycle regulator through degradation of EGR1.
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| Roeb W, Boyer A, Cavenee WK, Arden KC.
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| Proc Natl Acad Sci U S A 104(46):18085-90. Epub 2007 Nov 6. 2007
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| 27 | PAX3
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| Regulation of Pax3 by proteasomal degradation of monoubiquitinated protein in skeletal muscle progenitors.
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| Boutet SC, Disatnik MH, Chan LS, Iori K, Rando TA.
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| Cell 130(2):349-62. 2007
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| 28 | PAX3, PAX7
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| Comparison of the proximal promoter regions of the PAX3 and PAX7 genes.
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| Möller E, Isaksson M, Mandahl N, Mertens F, Panagopoulos I.
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| Cancer Genet Cytogenet 178(2):114-9.PMID: 17954266 2007
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| 29 | DMRT2, PAX3
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| Dmrt2 and Pax3 double-knockout mice show severe defects in embryonic myogenesis.
|
| Seo KW.
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| Comp Med 57(5):460-8.
2007
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| 30 | PAX3
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| PDZ-binding motif (TAZ)
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| Murakami M, Tominaga J, Makita R, Uchijima Y, Kurihara Y, Nakagawa O, Asano T, Kurihara H.
|
| Biochem Biophys Res Commun. 339(2):533-9 2006
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| 31 | PAX3
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| Regulation of murine TGFbeta2 by Pax3 during early embryonic development.
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| Mayanil CS, Pool A, Nakazaki H, Reddy AC, Mania-Farnell B, Yun B, George D, McLone DG, Bremer EG.
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| J Biol Chem. 281(34):24544-52. 2006
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| 32 | PAX3
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| Pax3 functions at a nodal point in melanocyte stem cell differentiation.
|
| Lang D, Lu MM, Huang L, Engleka KA, Zhang M, Chu EY, Lipner S, Skoultchi A, Millar SE, Epstein JA.
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| Nature 433(7028):884-7. 2005
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| 33 | PAX3, PAX7
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| A Pax3/Pax7-dependent population of skeletal muscle progenitor cells.
|
| Relaix F, Rocancourt D, Mansouri A, Buckingham M.
|
| Nature 435(7044):948-53. Epub 2005 Apr 20. 2005
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| 34 | FOXO1,PAX3,PAX7
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| Co-expression of alternatively spliced forms of PAX3, PAX7, PAX3-FKHR and PAX7-FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcoma.
|
| Du S, Lawrence EJ, Strzelecki D, Rajput P, Xia SJ, Gottesman DM, Barr FG.
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| Int J Cancer 115(1):85-92. 2005
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| 35 | FOXO1,PAX3
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| Cell-type-specific regulation of distinct sets of gene targets by Pax3 and Pax3/FKHR.
|
| Begum S, Emani N, Cheung A, Wilkins O, Der S, Hamel PA.
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| Oncogene 24(11):1860-72. 2005
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| 36 | PAX3
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| Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin.
|
| Parker CJ, Shawcross SG, Li H, Wang QY, Herrington CS, Kumar S, MacKie RM, Prime W, Rennie IG, Sisley K, Kumar P.
|
| Int J Cancer 108(2):314-20. 2004
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| 37 | PAX3, NCOA1
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| Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1.
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| Wachtel M, Dettling M, Koscielniak E, Stegmaier S, Treuner J, Simon-Klingenstein K, Buhlmann P, Niggli FK, Schafer BW.
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| Cancer Res 64(16):5539-45. 2004
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| 38 | GLI2, MEOX1, PAX3
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| Disruption of Meox or Gli activity ablates skeletal myogenesis in P19 cells.
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| Petropoulos H, Gianakopoulos PJ, Ridgeway AG, Skerjanc IS.
|
| J Biol Chem 279(23):23874-81. Epub 2004 Mar 23.
2004
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| 39 | PAX3, PAX6
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| Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13.
|
| Ploski JE, Shamsher MK, Radu A.
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| Mol Cell Biol. 24(11):4824-34. 2004
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| 40 | FOXO1,PAX3
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| Chromosomal imbalances in pleomorphic rhabdomyosarcomas and identification of the alveolar rhabdomyosarcoma-associated PAX3-FOXO1A fusion gene in one case.
|
| Gordon A, McManus A, Anderson J, Fisher C, Abe S, Nojima T, Pritchard-Jones K, Shipley J.
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| Cancer Genet Cytogenet 140(1):73-7. 2003
|
| 41 | WS3, WS1, PAX3
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| Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
|
| Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M.
|
| Am J Med Genet A 122(1):42-5. 2003
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| 42 | CDHS, PAX3
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| Craniofacial-deafness-hand syndrome revisited.
|
| Sommer A, Bartholomew DW.
|
| Am J Med Genet A 123(1):91-4. 2003
|
| 43 | PAX3
|
| Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer.
|
| Lang D, Epstein JA.
|
| Hum. Molec. Genet. 12(8):937-45. 2003
|
| 44 | ARMS, FOXO1, PAX3, PAX7
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| PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.
|
| Sorensen PH, Lynch JC, Qualman SJ, Tirabosco R, Lim JF, Maurer HM, Bridge JA, Crist WM, Triche TJ, Barr FG.
|
| J Clin Oncol 20(11):2672-9. 2002
|
| 45 | BVES, FLT1, PAX3
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| Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma.
|
| Barber TD, Barber MC, Tomescu O, Barr FG, Ruben S, Friedman TB.
|
| Genomics 79(3):278-84. 2002
|
| 46 | PAX3
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| Pax3-FKHR knock-in mice show developmental aberrations but do not develop tumors.
|
| Lagutina I, Conway SJ, Sublett J, Grosveld GC.
|
| Mol Cell Biol. 22(20):7204-16. 2002
|
| 47 | PAX3
|
| The EF-hand calcium-binding protein calmyrin inhibits the transcriptional and DNA-binding activity of Pax3.
|
| Hollenbach AD, McPherson CJ, Lagutina I, Grosveld G.
|
| Biochim Biophys Acta. 1574(3):321-8. 2002
|
| 48 | PAX3, WS3
|
| Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
|
| Tekin M, Bodurtha J, Nance W, Pandya A.
|
| Clin Genet 60(4):301-4. 2001
|
| 49 | PAX3
|
| Pax3 is essential for skeletal myogenesis and the expression of Six1 and Eya2.
|
| Ridgeway AG, Skerjanc IS.
|
| J Biol Chem 276(22):19033-9. 2001
|
| 50 | MEOX1, MEOX2, PAX3
|
| Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors.
|
| Stamataki D, Kastrinaki M, Mankoo BS, Pachnis V, Karagogeos D.
|
| FEBS Lett 499(3):274-8. 2001
|
| 51 | PAX3
|
| Regulation of Pax3 transcriptional activity by SUMO-1-modified PML.
|
| Lehembre F, Müller S, Pandolfi PP, Dejean A.
|
| Oncogene. 20(1):1-9. 2001
|
| 52 | MITF, PAX3, SOX10, WS2A, WS4C
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| Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
|
| Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Caignec CL, Wegner M, Goossens M.
|
| Hum Mol Genet 9(13):1907-17. 2000
|
| 53 | MITF, PAX3, SOX10
|
| Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
|
| Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ.
|
| Hum Genet 107(1):1-6. 2000
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| 54 | PAX3
|
| Functional characterization of the human PAX3 gene regulatory region.
|
| Okladnova O, et al.
|
| Genomics 57(1):110-9. 1999
|
| 55 | ETS1, PAX2, PAX3, PAX5
|
| The highly conserved beta-hairpin of the paired DNA-binding domain is required for assembly of Pax-Ets ternary complexes.
|
| Wheat W, Fitzsimmons D, Lennox H, Krautkramer SR, Gentile LN, McIntosh LP, Hagman J.
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| Mol Cell Biol 19(3):2231-41. 1999
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| 56 | PAX3
|
| PAX3 gene structure, alternative splicing and evolution.
|
| Barber TD, Barber MC, Cloutier TE, Friedman TB.
|
| Gene 237(2):311-9. 1999
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| 57 | PAX3
|
| The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx.
|
| Hollenbach AD, Sublett JE, McPherson CJ, Grosveld G.
|
| EMBO J. 18(13):3702-11. 1999
|
| 58 | PAX3, PAX6, RB1
|
| Pax-6 interactions with TATA-box-binding protein and retinoblastoma protein.
|
| Cvekl A, Kashanchi F, Brady JN, Piatigorsky J.
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| Invest Ophthalmol Vis Sci. 40(7):1343-50. 1999
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| 59 | PAX3, WS1
|
| Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
|
| Carey ML, et al.
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| J Med Genet 35 : 248-250. 1998
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| 60 | MITF, PAX3, WS1
|
| Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
|
| Watanabe A, Takeda K, Ploplis B, Tachibana M.
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| Nat Genet 18(3):283-6. 1998
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| 61 | PAX3, WS1
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| Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
|
| DeStefano AL, et al.
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| Hum Genet 102 : 499-506. 1998
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| 62 | PAX3
|
| A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2.
|
| Wang C, et al.
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| Mol Cell Probes 12 : 55-57. 1998
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| 63 | HIRA, PAX3
|
| HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.
|
| Magnaghi P, et al.
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| Nat Genet 20 : 74-77. 1998
|
| 64 | SHH, PAX3
|
| Sonic hedgehog induces proliferation of committed skeletal muscle cells in the chick limb.
|
| Duprez D, et al.
|
| Development 125 : 495-505. 1998
|
| 65 | PAX3, BMP2, BMP4
|
| The importance of timing differentiation during limb muscle development.
|
| Amthor H, et al.
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| Curr Biol 8(11):642-52. 1998
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| 66 | PAX3, WS1
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| Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.
|
| Morell R, et al.
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| Hum Hered 47 : 38-41. 1997
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| 67 | PAX3, WS1
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| Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
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| Soejima H, et al.
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| Hum Mutat 9 : 177-180. 1997
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| 68 | PAX3, WS1
|
| The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
|
| Morell R, Friedman TB, Asher JH Jr, Robbins LG.
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| J Med Genet 34(6):447-52. 1997
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| 69 | PAX3, WS1
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| A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).
|
| Attaie A, Kim E, Wilcox ER, Lalwani AK.
|
| Mol Cell Probes 11(3):233-6. 1997
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| 70 | ARMS,BARMS1,BARMS13,BARMS2,FOXO1,PAX3,PAX7
|
| In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma.
|
| Barr FG, et al.
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| Hum Mol Genet 5 : 15-21. 1996
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| 71 | PAX3, WS1
|
| Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.
|
| Reynolds JE, et al.
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| Am J Hum Genet 58 : 384-392. 1996
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| 72 | WS1, PAX3
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| Phenotypic variation in Waardenburg syndrome : mutational heterogeneity, modifier genes or polygenic background?
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| Pandya A, et al.
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| Hum Mol Genet 5 : 497-502. 1996
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| 73 | WS1, PAX3
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| Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability : a murine model of Waardenburg syndrome variation.
|
| Asher JH, et al.
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| Genomics 34 : 285-298. 1996
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| 74 | PAX3, WS1
|
| Two different PAX3 gene mutations causing Waardenburg syndrome type I.
|
| Wildhardt G, et al.
|
| Mol Cell Probes 10 : 229-231. 1996
|
| 75 | COL6A3, PAX3
|
| Deletion or triplication of the alpha3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders.
|
| Rauch A, et al.
|
| Clin Genet 49 : 279-285. 1996
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| 76 | CDHS, PAX3
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| Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
|
| Asher JH Jr, Sommer A, Morell R, Friedman TB.
|
| Hum Mutat 7(1):30-5. 1996
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| 77 | ARMS,BARMS13,FOXO1,PAX3
|
| Detection of the t(2;13)(q35;q14) and PAX3-FKHR fusion in alveolar rhabdomyosarcoma by fluorescence in situ hybridization.
|
| Biegel JA, Nycum LM, Valentine V, Barr FG, Shapiro DN.
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| Genes Chromosomes Cancer 12 : 186-192. 1995
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| 78 | MITF, PAX3, WS1, WS2A, WS3
|
| The mutational spectrum in Waardenburg syndrome.
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| Tassabehji M, et al.
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| Hum Mol Genet 4 : 2131-2137. 1995
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| 79 | PAX3, WS1
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| A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
|
| Hol FA, et al.
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| J Med Genet 32 : 52-56. 1995
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| 80 | PAX3, BARMS2, ARMS
|
| Genomic organization of the human PAX3 gene : DNA sequence analysis of the region disrupted in alveolar rhadbomyosarcoma.
|
| Macina RA, et al.
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| Genomics 26 : 1-8. 1995
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| 81 | FOXO1,PAX3
|
| The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3.
|
| Fredericks WJ, et al.
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| Mol Cell Biol 15 : 1522-1535. 1995
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| 82 | WS3, PAX3
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| Homozygosity for Waardenburg syndrome.
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| Zlotogora J, et al.
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| Am J Hum Genet 56 : 1173-1178. 1995
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| 83 | BARMS13,BARMS2,FOXO1,PAX3
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| The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator.
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| Sublett JE, et al.
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| Oncogene 11 : 545-552. 1995
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| 84 | WS1, PAX3
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| Mutations in PAX3 that cause Waardenburg syndrome type I : ten new mutations and review of the literature.
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| Baldwin CT, et al.
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| Am J Med Genet 58 : 115-122. 1995
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| 85 | WS1, PAX3
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| Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type I in two families.
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| Lalwani AK, et al.
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| Am J Hum Genet 56 : 75-83. 1995
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| 86 | PAX3
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| Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues.
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| Tsukamoto K, et al.
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| Hum Genet 93 : 270-274. 1994
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| 87 | WS1, PAX3
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| A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.
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| Butt J, et al.
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| Hum Mol Genet 3 : 197-198. 1994
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| 88 | WS1, PAX3
|
| Mutations in PAX3 associated with Waardenburg syndrome type I.
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| Baldwin CT, et al.
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| Hum Mutat 3 : 205-211. 1994
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| 89 | WS1, PAX3
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| Molecular basis of splotch and Waardenburg Pax-3 mutations.
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