| 1 | DUP7Q11, GTF2I
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| Duplication of GTF2I Results in Separation Anxiety in Mice and Humans.
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| Mervis CB, Dida J, Lam E, Crawford-Zelli NA, Young EJ, Henderson DR, Onay T, Morris CA, Woodruff-Borden J, Yeomans J, Osborne LR.
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| Am J Hum Genet 90(6):1064-70. Epub 2012 May 10.
2012
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| 2 | GTF2I, WBS
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| Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.
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| Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD.
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| Autism Res 4(1):28-39. doi: 10.1002/aur.169. Epub 2010 Dec 3.
2011
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| 3 | CFDP1, GTF2I, NSD1, SEC23A
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| Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.
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| Makeyev AV, Bayarsaihan D.
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| Cleft Palate Craniofac J 48(1):109-16. doi: 10.1597/09-093. Epub 2010 Apr 7.
2011
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| 4 | GTF2I, GTF2IRD1, WBS
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| An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
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| Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo MG, Forzano S, Reymond A, Merla G.
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| Eur J Hum Genet 18(1):33-8. Epub .
2010
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| 5 | DUP7Q11, ELN, GTF2I, GTF2IRD1, LIMK1, RFC2, TRIM50, WBS
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| A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
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| Beunders G, van de Kamp JM, Veenhoven RH, van Hagen JM, Nieuwint AW, Sistermans EA.
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| J Med Genet 47(4):271-5. Epub 2009 Sep 14.PMID: 19752158 2010
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| 6 | GTF2I, GTF2IRD1, WBS
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| Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
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| Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA.
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| J Med Genet 47(5):312-20. Epub 2009 Nov 5.PMID: 19897463 2010
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| 7 | GTF2I, GTF2IRD1, WBS
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| Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.
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| Dai L, Bellugi U, Chen XN, Pulst-Korenberg AM, Järvinen-Pasley A, Tirosh-Wagner T, Eis PS, Graham J, Mills D, Searcy Y, Korenberg JR.
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| Am J Med Genet A 149A(3):302-14.
2009
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| 8 | GTF2I, GTF2IRD1
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| Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development.
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| Enkhmandakh B, Makeyev AV, Erdenechimeg L, Ruddle FH, Chimge NO, Tussie-Luna MI, Roy AL, Bayarsaihan D.
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| Proc Natl Acad Sci U S A 106(1):181-6. Epub 2008 Dec 24.
2009
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| 9 | GTF2I
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| Alternative splicing and promoter use in TFII-I genes.
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| Makeyev AV, Bayarsaihan D.
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| Gene 433(1-2):16-25. Epub 2008 Dec 9.
2009
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| 10 | GTF2I, GTF2IRD1, KBTBD7, SCAND3
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| New TFII-I family target genes involved in embryonic development.
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| Makeyev AV, Bayarsaihan D.
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| Biochem Biophys Res Commun 386(4):554-8. Epub 2009 Jun 13.PMID: 19527686 2009
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| 11 | GTF2I
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| Alternative splicing and promoter use in TFII-I genes.
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| Makeyev AV, Bayarsaihan D.
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| Gene. 433(1-2):16-25. 2009
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| 12 | GTF2I
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| A mechanosensitive transcriptional mechanism that controls angiogenesis.
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| Mammoto, A.; Connor, K. M.; Mammoto, T.; Yung, C. W.; Huh, D.; Aderman, C. M.; Mostoslavsky, G.; Smith, L. E. H.; Ingber, D. E.
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| Nature. 457: 1103-1108 2009
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| 13 | GTF2I, WBS
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| Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes.
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| Lazebnik MB, Tussie-Luna MI, Hinds PW, Roy AL.
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| J Biol Chem 284(52):36234-9. Epub 2009 Oct 30.PMID: 19880526 2009
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| 14 | ARID3A, BTK, GTF2I
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| Signalling of the BCR is regulated by a lipid rafts-localised transcription factor, Bright.
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| Schmidt C, Kim D, Ippolito GC, Naqvi HR, Probst L, Mathur S, Rosas-Acosta G, Wilson VG, Oldham AL, Poenie M, Webb CF, Tucker PW.
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| EMBO J 28(6):711-24. Epub 2009 Feb 12.
2009
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| 15 | GTF2I, GTF2IRD1
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| Identification of the TFII-I family target genes in the vertebrate genome.
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| Chimge NO, Makeyev AV, Ruddle FH, Bayarsaihan D.
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| Proc Natl Acad Sci U S A 105(26):9006-10. Epub 2008 Jun 25. 2008
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| 16 | GTF2I, GTF2IRD1
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| Identification of the TFII-I family target genes in the vertebrate genome.
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| Chimge NO, Makeyev AV, Ruddle FH, Bayarsaihan D.
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| Proc Natl Acad Sci U S A 105(26):9006-10. Epub 2008 Jun 25.
2008
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| 17 | DYX1C1, GTF2I, PARP1, SFPQ
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| The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia.
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| Tapia-Páez I, Tammimies K, Massinen S, Roy AL, Kere J.
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| FASEB J 22(8):3001-9. Epub 2008 Apr 29.
2008
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| 18 | WBS, GTF2I
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| An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
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| Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, Gonzalez PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA.
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| J Med Genet 44(2):136-43. Epub 2006 Sep 13. 2007
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| 19 | GTF2I
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| Action of TFII-I outside the nucleus as an inhibitor of agonist-induced calcium entry.
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| Caraveo, G.; van Rossum, D. B.; Patterson, R. L.; Snyder, S. H.; Desiderio, S.
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| Science 314: 122-125 2006
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| 20 | ARID3A, BTK, GTF2I
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| Induction of immunoglobulin heavy-chain transcription through the transcription factor Bright requires TFII-I.
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| Rajaiya J, Nixon JC, Ayers N, Desgranges ZP, Roy AL, Webb CF.
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| Mol Cell Biol 26(12):4758-68.
2006
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| 21 | TRIM50, VPS37D, WBSCR28, GTF2IRD1, GTF2I
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| Friendly faces and unusual minds.
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| Bhattacharjee Y.
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| Science 310(5749):802-4. No abstract available. 2005
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| 22 | GTF2I, GTF2IRD1
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| TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype.
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| Danoff SK, Taylor HE, Blackshaw S, Desiderio S.
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| Neuroscience 123(4):931-8. 2004
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| 23 | GTF2I
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| Mechanism of Bruton's tyrosine kinase-mediated recruitment and regulation of TFII-I.
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| Sacristán C, Tussié-Luna MI, Logan SM, Roy AL.
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| J Biol Chem. 279(8):7147-58 2004
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| 24 | GTF2I, WBS
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| GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
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| Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD.
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| Am J Med Genet A 123(1):45-59. 2003
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| 25 | GTF2I
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| Histone deacetylase 3 binds to and regulates the multifunctional transcription factor TFII-I.
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| Wen YD, Cress WD, Roy AL, Seto E.
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| J Biol Chem. 278(3):1841-7. 2003
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| 26 | GTF2I
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| A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes.
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| Hakimi, M.-A.; Dong, Y.; Lane, W. S.; Speicher, D. W.; Shiekhattar, R.
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| J. Biol. Chem. 278: 7234-7239 2003
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| 27 | GTF2I, NCF1, POM121, EIF4H, MLXIPL, WBS
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| Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.
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| DeSilva U, Elnitski L, Idol JR, Doyle JL, Gan W, Thomas JW, Schwartz S, Dietrich NL, Beckstrom-Sternberg SM, McDowell JC, Blakesley RW, Bouffard GG, Thomas PJ, Touchman JW, Miller W, Green ED.
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| Genome Res 12(1):3-15. 2002
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| 28 | GTF2I
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| The SUMO ubiquitin-protein isopeptide ligase family member Miz1/PIASxbeta /Siz2 is a transcriptional cofactor for TFII-I.
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| Tussie-Luna MI, Michel B, Hakre S, Roy AL.
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| J Biol Chem. 277(45):43185-93. 2002
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| 29 | GTF2I
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| cGMP-dependent protein kinase I beta physically and functionally interacts with the transcriptional regulator TFII-I.
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| Casteel DE, Zhuang S, Gudi T, Tang J, Vuica M, Desiderio S, Pilz RB.
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| J Biol Chem. 277(35):32003-14. 2002
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| 30 | GTF2I
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| JAK2 activates TFII-I and regulates its interaction with extracellular signal-regulated kinase.
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| Kim DW, Cochran BH.
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| Mol Cell Biol. 21(10):3387-97. 2001
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| 31 | GTF2I
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| Identification of TFII-I as the endoplasmic reticulum stress response element binding factor ERSF: its autoregulation by stress and interaction with ATF6
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| Parker R, Phan T, Baumeister P, Roy B, Cheriyath V, Roy AL, Lee AS.
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| Mol Cell Biol. 21(9):3220-33. 2001
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| 32 | GTF2I, GTF2IRD1
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| Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains.
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| Bayarsaihan D, Ruddle FH.
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| Proc Natl Acad Sci U S A 97(13):7342-7. 2000
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| 33 | GTF2I
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| Alternatively spliced isoforms of TFII-I. Complex formation, nuclear translocation, and differential gene regulation.
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| Cheriyath V, Roy AL.
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| J Biol Chem 275(34):26300-8. 2000
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| 34 | GTF2I
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| Extracellular signal-regulated kinase binds to TFII-I and regulates its activation of the c-fos promoter.
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| Kim DW, Cochran BH.
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| Mol Cell Biol. 20(4):1140-8. 2000
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| 35 | GTF2I, GTF2IP1, GTF2IP2
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| A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
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| Perez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U.
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| Hum Mol Genet 7(3):325-34. 1998
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| 36 | GTF2I, GTF2IP1, WBS
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| A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region.
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| Wang YK, Perez-Jurado LA, Francke U.
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| Genomics 48(2):163-70. 1998
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| 37 | GTF2I
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| TFII-I enhances activation of the c-fos promoter through interactions with upstream elements.
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| Kim DW, Cheriyath V, Roy AL, Cochran BH.
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| Mol Cell Biol. 18(6):3310-20. 1998
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| 38 | GTF2I
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| BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement.
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| Yang W, et al.
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| Proc Natl Acad Sci U S A 94 : 604-609. 1997
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| 39 | GTF2I
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| A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I.
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| Grueneberg DA, et al.
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| Genes Dev 11(19):2482-93 1997
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| 40 | GTF2I, USF1
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| Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1.
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| Roy AL, et al.
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| EMBO J 16(23):7091-104 1997
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| 41 | GTF2I
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| Direct role for Myc in transcription initiation mediated by interactions with TFII-I.
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| Roy AL, Carruthers C, Gutjahr T, Roeder RG.
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| Nature. 365(6444):359-61. 1993
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