Video Upload Options

References

1. Caraveo G, van Rossum DB, Patterson RL, Snyder SH, Desiderio S. Action ofTFII-I outside the nucleus as an inhibitor of agonist-induced calcium entry.Science. 2006 Oct 6;314(5796):122-5.
2. Danoff SK, Taylor HE, Blackshaw S, Desiderio S. TFII-I, a candidate gene forWilliams syndrome cognitive profile: parallels between regional expression inmouse brain and human phenotype. Neuroscience. 2004;123(4):931-8.
3. Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L,González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A,Francke U, Burton BK, McInnes LA. An atypical deletion of the Williams-Beurensyndrome interval implicates genes associated with defective visuospatialprocessing and autism. J Med Genet. 2007 Feb;44(2):136-43.
4. Egloff AM, Desiderio S. Identification of phosphorylation sites for Bruton'styrosine kinase within the transcriptional regulator BAP/TFII-I. J Biol Chem.2001 Jul 27;276(30):27806-15.
5. Hirota H, Matsuoka R, Chen XN, Salandanan LS, Lincoln A, Rose FE, Sunahara M, Osawa M, Bellugi U, Korenberg JR. Williams syndrome deficits in visual spatialprocessing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med. 2003Jul-Aug;5(4):311-21.
6. Mervis CB, Klein-Tasman BP, Huffman MJ, Velleman SL, Pitts CH, Henderson DR,Woodruff-Borden J, Morris CA, Osborne LR. Children with 7q11.23 duplicationsyndrome: psychological characteristics. Am J Med Genet A. 2015Jul;167(7):1436-50. doi: 10.1002/ajmg.a.37071.
7. Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williamssyndrome: a unique window to genetic influences on cognition and behaviour. NatRev Neurosci. 2006 May;7(5):380-93. Review.
8. 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. GTF2I hemizygosity implicated in mental retardation in Williams syndrome:genotype-phenotype analysis of five families with deletions in the Williamssyndrome region. Am J Med Genet A. 2003 Nov 15;123A(1):45-59.
9. Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF,Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR. 7q11.23 Duplicationsyndrome: Physical characteristics and natural history. Am J Med Genet A. 2015Dec;167A(12):2916-35. doi: 10.1002/ajmg.a.37340.
10. Ohazama A, Sharpe PT. TFII-I gene family during tooth development: candidategenes for tooth anomalies in Williams syndrome. Dev Dyn. 2007 Oct;236(10):2884-8.
11. Pérez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U. Aduplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndromedeletion encodes the initiator binding protein TFII-I and BAP-135, aphosphorylation target of BTK. Hum Mol Genet. 1998 Mar;7(3):325-34.
12. Roy AL. Signal-induced functions of the transcription factor TFII-I. BiochimBiophys Acta. 2007 Nov-Dec;1769(11-12):613-21.
13. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB,Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM,Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS,Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP,Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM,Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr,Geschwind D, Roeder K, Devlin B, State MW. Multiple recurrent de novo CNVs,including duplications of the 7q11.23 Williams syndrome region, are stronglyassociated with autism. Neuron. 2011 Jun 9;70(5):863-85. doi:10.1016/j.neuron.2011.05.002.
14. Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotypecorrelations. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37.Review.
15. Yang W, Desiderio S. BAP-135, a target for Bruton's tyrosine kinase inresponse to B cell receptor engagement. Proc Natl Acad Sci U S A. 1997 Jan21;94(2):604-9.