| 1 | GTF2IRD1, MKX
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| Gtf2ird1-Dependent Mohawk Expression Regulates Mechanosensing Properties of the Tendon.
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| Kayama T, Mori M, Ito Y, Matsushima T, Nakamichi R, Suzuki H, Ichinose S, Saito M, Marumo K, Asahara H.
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| Mol Cell Biol 36(8):1297-309. doi: 10.1128/MCB.00950-15. Print 2016 Apr.
2016
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| 2 | GTF2IRD1
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| An In Vivo Gain-of-Function Screen Identifies the Williams-Beuren Syndrome Gene GTF2IRD1 as a Mammary Tumor Promoter.
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| Huo Y, Su T, Cai Q, Macara IG.
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| Cell Rep 15(10):2089-2096. doi: 10.1016/j.celrep.2016.05.011. Epub 2016 May 26.
2016
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| 3 | GTF2IRD1
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| The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation.
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| Carmona-Mora P, Widagdo J, Tomasetig F, Canales CP, Cha Y, Lee W, Alshawaf A, Dottori M, Whan RM, Hardeman EC, Palmer SJ.
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| Hum Genet 134(10):1099-115. doi: 10.1007/s00439-015-1591-0. Epub 2015 Aug 15.
2015
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| 4 | GTF2IRD1, WBS
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| The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome.
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| Canales CP, Wong AC, Gunning PW, Housley GD, Hardeman EC, Palmer SJ.
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| Eur J Hum Genet 23(6):774-80. doi: 10.1038/ejhg.2014.188. Epub 2014 Sep 24.
2015
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| 5 | GTF2IRD1
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| The transcription factor GTF2IRD1 regulates the topology and function of photoreceptors by modulating photoreceptor gene expression across the retina.
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| Masuda T, Zhang X, Berlinicke C, Wan J, Yerrabelli A, Conner EA, Kjellstrom S, Bush R, Thorgeirsson SS, Swaroop A, Chen S, Zack DJ.
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| J Neurosci 34(46):15356-68. doi: 10.1523/JNEUROSCI.2089-14.2014.
2014
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| 6 | GTF2IRD1
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| SUMOylation of GTF2IRD1 Regulates Protein Partner Interactions and Ubiquitin-Mediated Degradation.
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| Widagdo J, Taylor KM, Gunning PW, Hardeman EC, Palmer SJ.
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| PLoS One 7(11):e49283. doi: 10.1371/journal.pone.0049283. Epub 2012 Nov 8.
2012
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| 7 | GTF2IRD1
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| GTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members.
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| Palmer SJ, Taylor KM, Santucci N, Widagdo J, Chan YK, Yeo JL, Adams M, Gunning PW, Hardeman EC.
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| J Cell Sci 125(Pt 21):5040-50. doi: 10.1242/jcs.102798. Epub 2012 Aug 16.
2012
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| 8 | GTF2IRD1, WBS
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| Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.
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| Howard ML, Palmer SJ, Taylor KM, Arthurson GJ, Spitzer MW, Du X, Pang TY, Renoir T, Hardeman EC, Hannan AJ.
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| Neurobiol Dis 45(3):913-22. doi: 10.1016/j.nbd.2011.12.010. Epub 2011 Dec 11.
2012
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| 9 | GTF2IRD1
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| Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.
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| O'Leary J, Osborne LR.
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| PLoS One 6(8):e23868. doi: 10.1371/journal.pone.0023868. Epub 2011 Aug 31.
2011
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| 10 | 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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| 11 | 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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| 12 | GTF2IRD1, WBS
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| Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.
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| Palmer SJ, Santucci N, Widagdo J, Bontempo SJ, Taylor KM, Tay ES, Hook J, Lemckert F, Gunning PW, Hardeman EC.
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| J Biol Chem 285(7):4715-24. Epub 2009 Dec 9. 2010
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| 13 | 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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| 14 | 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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| 15 | 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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| 16 | 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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| 17 | 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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| 18 | 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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| 19 | GSC,GTF2IRD1,HOXC8
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| GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'.
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| Thompson PD, Webb M, Beckett W, Hinsley T, Jowitt T, Sharrocks AD, Tassabehji M.
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| FEBS Lett 581(6):1233-42. Epub 2007 Feb 28. 2007
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| 20 | GTF2IRD1, GTF2IRD2
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| TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome.
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| Ohazama A, Sharpe PT.
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| Dev Dyn 236(10):2884-8.PMID: 17823943 2007
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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 | GTF2IRD1
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| GTF2IRD1 in craniofacial development of humans and mice.
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| Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D.
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| Science 310(5751):1184-7. Epub 2005 Nov 3. 2005
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| 23 | 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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| 24 | GTF2IRD1
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| Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression.
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| Vullhorst D, Buonanno A.
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| J Biol Chem 278(10):8370-9. Epub 2002 Dec 9.
2003
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| 25 | GTF2IRD1
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| Genomic organization of the genes gtf2ird1, gtf2i, and ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 williams syndrome critical region.
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| Bayarsaihan D, Dunai J, Greally JM, Kawasaki K, Sumiyama K, Enkhmandakh B, Shimizu N, Ruddle FH.
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| Genomics 79(1):137-43. 2002
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| 26 | GTF2IRD1
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| Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome.
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| Durkin ME, Keck-Waggoner CL, Popescu NC, Thorgeirsson SS.
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| Genomics 73(1):20-7. 2001
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| 27 | 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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| 28 | GTF2IRD1
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| Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I.
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| Yan X, Zhao X, Qian M, Guo N, Gong X, Zhu X.
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| Biochem J 345 Pt 3:749-57. 2000
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| 29 | GTF2IRD1, WBS
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| Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
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| Osborne LR, et al.
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| Genomics 57(2):279-84. 1999
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| 30 | GTF2IRD1
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| A transcription factor involved in skeletal muscle gene expression is deleted in patients with williams syndrome.
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| Tassabehji M, et al.
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| Eur J Hum Genet 7(7):737-47 1999
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| 31 | GTF2IRD1
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| Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
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| Franke Y, et al.
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| Cytogenet Cell Genet 86(3-4):296-304 1999
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| 32 | GTF2IRD1
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| Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1.
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| O'Mahoney JV, et al.
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| Mol Cell Biol 18(11):6641-52 1998
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| 33 | CLIP2, EIF4H, ELN, GTF2IRD1, LAT2, LIMK1, RFC2, WBS, WBS, WBSCR2
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| Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
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| Osborne LR, et al.
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| Genomics 36 : 328-336. 1996
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