| 1 | IRF6, MACF1, RBM15, SETD2, TFAP2A, ZFHX3, ZFHX4
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| Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
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| Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muñeton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chou YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ
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| Am J Hum Genet. Jul 2;107(1):124-136. doi: 10.1016/j.ajhg.2020.05.018. Epub 2020 Jun 22. 2020
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| 2 | GRHL3, IRF6, TFAP2A
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| The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation
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| Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC.
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| Hum Mol Genet. May 15;28(10):1726-1737. doi: 10.1093/hmg/ddz010. 2019
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| 3 | IRF6, TFAP2A
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| IRF6 and AP2A Interaction Regulates Epidermal Development.
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| Kousa YA, Fuller E, Schutte BC.
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| J Invest Dermatol. Dec;138(12):2578-2588. doi: 10.1016/j.jid.2018.05.030. Epub 2018 Jun 18. 2018
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| 4 | PITX2, TFAP2A
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| A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a.
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| Ye J, Tucker NR, Weng LC, Clauss S, Lubitz SA, Ellinor PT.
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| Am J Hum Genet 99(6):1281-1291. doi: 10.1016/j.ajhg.2016.10.001.
2016
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| 5 | F2R, TFAP2A
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| Regulation of protease-activated receptor 1 signaling by the adaptor protein complex 2 and R4 subfamily of regulator of G protein signaling proteins.
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| Chen B, Siderovski DP, Neubig RR, Lawson MA, Trejo J.
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| J Biol Chem 289(3):1580-91. doi: 10.1074/jbc.M113.528273.
2014
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| 6 | HRK, TFAP2A
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| Synergistic silencing by promoter methylation and reduced AP-2α transactivation of the proapoptotic HRK gene confers apoptosis resistance and enhanced tumor growth.
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| Xu M, Chen X, Chen N, Nie L, Li X, Li Q, Zeng H, Zhou Q.
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| Am J Pathol 182(1):84-95. doi: 10.1016/j.ajpath.2012.09.018. Epub 2012 Nov 13.
2013
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| 7 | BOFS, TFAP2A
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| Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
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| Li H, Sheridan R, Williams T.
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| Hum Mol Genet 22(16):3195-206. doi: 10.1093/hmg/ddt173. Epub 2013 Apr 10.
2013
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| 8 | CAPN7, MMP2, TFAP2A
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| CAPN 7 promotes the migration and invasion of human endometrial stromal cell by regulating matrix metalloproteinase 2 activity.
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| Liu H, Jiang Y, Jin X, Zhu L, Shen X, Zhang Q, Wang B, Wang J, Hu Y, Yan G, Sun H.
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| Reprod Biol Endocrinol 11:64. doi: 10.1186/1477-7827-11-64.
2013
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| 9 | DAB2, GIPC1, MYO6, TFAP2A
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| Myosin VI and Associated Proteins Are Expressed in Human Macrophages but Do Not Play a Role in Foam Cell Formation in THP-1 Cells.
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| Dawson HJ, Hibbert AP, Chantler PD, Botham KM.
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| Int J Vasc Med 2013:516015. doi: 10.1155/2013/516015. Epub 2013 Jun 9.
2013
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| 10 | SOX10, TFAP2A
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| Novel Tfap2-mediated control of soxE expression facilitated the evolutionary emergence of the neural crest.
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| Van Otterloo E, Li W, Garnett A, Cattell M, Medeiros DM, Cornell RA.
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| Development 139(4):720-30. doi: 10.1242/dev.071308. Epub 2012 Jan 12.
2012
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| 11 | TFAP2A, TFAP2B, TFAP2C
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| Overlapping expression patterns and redundant roles for AP-2 transcription factors in the developing mammalian retina.
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| Bassett EA, Korol A, Deschamps PA, Buettner R, Wallace VA, Williams T, West-Mays JA.
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| Dev Dyn 241(4):814-29. doi: 10.1002/dvdy.23762.
2012
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| 12 | AP1AR, TFAP2A
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| Role of AP1 and Gadkin in the traffic of secretory endo-lysosomes.
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| Laulagnier K, Schieber NL, Maritzen T, Haucke V, Parton RG, Gruenberg J.
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| Mol Biol Cell 22(12):2068-82. doi: 10.1091/mbc.E11-03-0193. Epub 2011 Apr 27.
2011
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| 13 | FOXD3, TFAP2A
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| Tfap2a and Foxd3 regulate early steps in the development of the neural crest progenitor population.
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| Wang WD, Melville DB, Montero-Balaguer M, Hatzopoulos AK, Knapik EW.
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| Dev Biol 360(1):173-85. Epub 2011 Sep 22.
2011
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| 14 | BOFS, TFAP2A
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| A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.
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| Aliferis K, Stoetzel C, Pelletier V, Hellé S, Angioï-Duprez K, Vigneron J, Leheup B, Marion V, Dollfus H.
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| Ophthalmic Genet 32(4):250-5. Epub 2011 Jul 5.
2011
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| 15 | IRF6, TFAP2A
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| Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population.
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| Shi J, Song T, Jiao X, Qin C, Zhou J.
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| Biochem Biophys Res Commun 410(4):732-6. Epub 2011 Jun 7.
2011
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| 16 | CHRNA7, TFAP2A
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| Transcriptional repression of the α7 nicotinic acetylcholine receptor subunit gene (CHRNA7) by activating protein-2α (AP-2α).
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| Finlay-Schultz J, Canastar A, Short M, El Gazzar M, Coughlan C, Leonard S.
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| J Biol Chem 286(49):42123-32. doi: 10.1074/jbc.M111.276014. Epub 2011 Oct 6.
2011
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| 17 | TFAP2A, TFAP2C
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| Identification of primary gene targets of TFAP2C in hormone responsive breast carcinoma cells.
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| Woodfield GW, Chen Y, Bair TB, Domann FE, Weigel RJ.
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| Genes Chromosomes Cancer 49(10):948-62.PMID: 20629094 2010
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| 18 | FOXD1, TFAP2A
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| FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish.
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| Balikova I, Devriendt K, Fryns JP, Vermeesch JR.
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| Mol Syndromol 1(5):255-261. Epub 2011 May 18.
2010
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| 19 | BOFS, TFAP2A
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| Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.
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| Thomeer HG, Crins TT, Kamsteeg EJ, Buijsman W, Cruysberg JR, Knoers NV, Cremers CW.
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| Ann Otol Rhinol Laryngol 119(12):806-14. Review.
2010
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| 20 | CDKN1A, TFAP2A
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| Dual association by TFAP2A during activation of the p21cip/CDKN1A promoter.
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| Scibetta AG, Wong PP, Chan KV, Canosa M, Hurst HC.
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| Cell Cycle 9(22):4525-32.
2010
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| 21 | MUC8, TFAP2A
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| AP2alpha is essential for MUC8 gene expression in human airway epithelial cells.
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| Moon UY, Kim CH, Choi JY, Kim YJ, Choi YH, Yoon HG, Kim H, Yoon JH.
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| J Cell Biochem 110(6):1386-98. doi: 10.1002/jcb.22655.
2010
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| 22 | KCTD1, TFAP2A
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| The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation.
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| Ding X, Luo C, Zhou J, Zhong Y, Hu X, Zhou F, Ren K, Gan L, He A, Zhu J, Gao X, Zhang J.
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| J Cell Biochem 106(2):285-95.
2009
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| 23 | BOFS, TFAP2A
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| A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.
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| Tekin M, Sirmaci A, Yüksel-Konuk B, Fitoz S, Sennaroðlu L.
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| Am J Med Genet A 149A(3):427-30.
2009
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| 24 | BOFS, TFAP2A
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| Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.
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| Stoetzel C, Riehm S, Bennouna Greene V, Pelletier V, Vigneron J, Leheup B, Marion V, Hellé S, Danse JM, Thibault C, Moulinier L, Veillon F, Dollfus H.
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| Am J Med Genet A 149A(10):2141-6.PMID: 19764023 2009
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| 25 | TFAP2A, BOFS
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| TFAP2A mutations result in branchio-oculo-facial syndrome.
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| Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE.
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| Am J Hum Genet 82(5):1171-7. 2008
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| 26 | TFAP2A
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| Transcription factor AP2alpha (TFAP2a) regulates differentiation and proliferation of neuroblastoma cells.
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| Schulte JH, Kirfel J, Lim S, Schramm A, Friedrichs N, Deubzer HE, Witt O, Eggert A, Buettner R.
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| Cancer Lett 271(1):56-63. Epub 2008 Jul 11.
2008
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| 27 | TFAP2A
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| Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme.
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| Feng W, Huang J, Zhang J, Williams T.
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| Mol Cell Biol 28(1):315-25. Epub 2007 Nov 5.PMID: 17984226 2008
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| 28 | TFAP2A, TFAP2C
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| AP-2alpha and AP-2gamma regulate tumor progression via specific genetic programs.
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| Orso F, Penna E, Cimino D, Astanina E, Maione F, Valdembri D, Giraudo E, Serini G, Sismondi P, De Bortoli M, Taverna D.
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| FASEB J 22(8):2702-14. Epub 2008 Apr 28.PMID: 18443366 2008
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| 29 | KCNJ4, TFAP2A
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| AP-2-dependent internalization of potassium channel Kir2.3 is driven by a novel di-hydrophobic signal.
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| Mason AK, Jacobs BE, Welling PA.
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| J Biol Chem 283(10):5973-84. Epub 2008 Jan 7.
2008
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| 30 | TFAP2A, TFAP2C
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| Immunohistochemical expression patterns of AP2alpha and AP2gamma in the developing fetal human breast.
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| Friedrichs N, Steiner S, Buettner R, Knoepfle G.
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| Histopathology 51(6):814-23.PMID: 18042070 2007
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| 31 | TFAP2A, TFAP2C, TP53
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| AP-2alpha and AP-2gamma are transcriptional targets of p53 in human breast carcinoma cells.
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| Li H, Watts GS, Oshiro MM, Futscher BW, Domann FE.
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| Oncogene 25(39):5405-15. Epub 2006 Apr 24. 2006
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| 32 | MTHFR, MTHFD1, NAP1L2, SLC19A1, TFAP2A
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| Candidate gene analysis in human neural tube defects.
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| Boyles AL, Hammock P, Speer MC.
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| Am J Med Genet C Semin Med Genet 135(1):9-23. 2005
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| 33 | FMR1, TFAP2A
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| AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.
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| Lim JH, Booker AB, Luo T, Williams T, Furuta Y, Lagutin O, Oliver G, Sargent TD, Fallon JR.
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| Hum Mol Genet 14(14):2027-34. Epub 2005 Jun 1. 2005
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| 34 | TFAP2A
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| Binding of AP-2 adaptor complex to brain membrane is regulated by phosphorylation of proteins.
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| Alberdi A, Sartor T, Sosa MA.
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| Biochem Biophys Res Commun 330(3):695-700. 2005
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| 35 | CITED2, PITX2, TFAP2A, NODAL
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| Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway.
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| Bamforth SD, Braganca J, Farthing CR, Schneider JE, Broadbent C, Michell AC, Clarke K, Neubauer S, Norris D, Brown NA, Anderson RH, Bhattacharya S.
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| Nat Genet 36(11):1189-96. Epub 2004 Oct 10. 2004
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| 36 | TFAP2A
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| Negative regulation of chondrocyte differentiation by transcription factor AP-2alpha.
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| Huang Z, Xu H, Sandell L.
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| J Bone Miner Res 19(2):245-55. 2004
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| 37 | OFCC1, OFC1, TFAP2A
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| Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region.
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| Davies SJ, Wise C, Venkatesh B, Mirza G, Jefferson A, Volpi EV, Ragoussis J.
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| Cytogenet Genome Res 105(1):47-53. 2004
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| 38 | AAK1, TFAP2A
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| AAK1-mediated micro2 phosphorylation is stimulated by assembled clathrin.
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| Conner SD, Schröter T, Schmid SL.
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| Traffic 4(12):885-90.
2003
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| 39 | TFAP2A
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| A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects.
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| Stegmann K, Boecker J, Richter B, Capra V, Finnell RH, Ngo ET, Strehl E, Ermert A, Koch MC.
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| Teratology 63(5):167-75. 2001
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| 40 | SCZD3, TFAP2A
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| Novel polymorphisms of the AP-2 gene (6p24): analysis of association with schizophrenia.
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| Kawanishi Y, Harada S, Tachikawa H, Okubo T, Shiraishi H.
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| J Hum Genet 45(1):24-30. 2000
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| 41 | DEL6PD, FOXC1, TFAP2A
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| An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development.
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| Davies AF, Mirza G, Flinter F, Ragoussis J.
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| J Med Genet 36(9):708-10 1999
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| 42 | CDH1, CDKN1A, KIT, MMP2, TFAP2A
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| Loss of AP-2 results in up-regulation of MCAM/MUC18 and an increase in tumor growth and metastasis of human melanoma cells.
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| Jean D, et al.
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| J Biol Chem 273 : 16501-16508. 1998
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| 43 | TFAP2A
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| AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice.
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| Nottoli T, Hagopian-Donaldson S, Zhang J, Perkins A, Williams T.
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| Proc Natl Acad Sci U S A 95 : 13714-13719. 1998
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| 44 | EHD1, EHD2, EHD3, EHD4, TFAP2A, EPS15
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| AP-2/Eps15 interaction is required for receptor-mediated endocytosis.
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| Benmerah A, Lamaze C, Begue B, Schmid SL, Dautry-Varsat A, Cerf-Bensussan N.
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| J Cell Biol 140(5):1055-62. 1998
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| 45 | TFAP2A
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| AP2 inhibits cancer cell growth and activates p21WAF1/CIP1 expression.
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| Zeng YX, et al.
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| Nat Genet 15 : 78-82. 1997
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| 46 | CAPZB, CD83, EDN1, GCNT2, HIVEP1, TFAP2A
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| Fine mapping of 39 ESTs on human chromosome 6p23-p25.
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| Olavesen MG, Bentley E, Mason RV, Stephens RJ, Ragoussis J.
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| Genomics 46(2):303-6. 1997
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| 47 | TFAP2A, TFAP2B, TFAP2C
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| Chromosomal mapping of the human and mouse homologues of two new membersof the AP-2 family of transcription factors.
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| Williamson JA, et al.
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| Genomics 35 : 262-264. 1996
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| 48 | TFAP2A
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| The genomic structure of the human AP-2 transcription factor.
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| Bauer R, et al.
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| Nucleic Acids Res 22 : 1413-1420. 1994
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| 49 | TFAP2A
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| Recognition sites for clathrin-associated proteins AP-2 and AP-3 on clathrin triskelia.
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| Murphy JE, Keen JH.
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| J Biol Chem 267(15):10850-5.
1992
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| 50 | TFAP2A
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| Localization of the gene for the DNA-binding protein AP-2 to human chromosome 6p22.3-pter.
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| Gaynor RB, et al.
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| Genomics 10 : 1100-1102. 1991
|