| 1 | DEL22q11, TBX1, VCF
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| A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.
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| Funato N, Heliövaara A, Boeckx C.
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| Am J Hum Genet. May 2;111(5):939-953. doi: 10.1016/j.ajhg.2024.03.012. Epub 2024 Apr 11. 2024
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| 2 | SMAD2, SMAD3, TBX1
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| TBX1 regulates myogenic differentiation by activating the TGFβ-Smad2/3 pathway in myoblasts
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| Cen H, Luo H, Luo B, Fan P, Zhang Y, Zhang Y.
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| Exp Biol Med (Maywood). Jan;248(1):61-69. doi: 10.1177/15353702221112087. Epub 2022 Aug 29. 2023
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| 3 | TBX1
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| Genetic and Cellular Interaction During Cardiovascular Development Implicated in Congenital Heart Diseases
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| Kodo K, Uchida K, Yamagishi H.
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| Front Cardiovasc Med Mar 16;8:653244. doi: 10.3389/fcvm.2021.653244. PMID: 33796576 2021
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| 4 | DEL22q11, TBX1, VCF
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| TBX1 Regulates Chondrocyte Maturation in the Spheno-occipital Synchondrosis
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| Funato N, Srivastava D, Shibata S, Yanagisawa H.
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| J Dent Res. Sep;99(10):1182-1191. doi: 10.1177/0022034520925080. Epub 2020 May 22. 2020
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| 5 | TBX1
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| TBX1 is required for normal stria vascularis and semicircular canal development.
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| Tian C, Johnson KR.
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| Dev Biol. Jan 1;457(1):91-103. doi: 10.1016/j.ydbio.2019.09.013. Epub 2019 Sep 21. 2020
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| 6 | TBX1
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| Tbx1 regulates extracellular matrix-cell interactions in the second heart field.
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| Alfano D, Altomonte A, Cortes C, Bilio M, Kelly RG, Baldini A.
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| Hum Mol Genet. Jul 15;28(14):2295-2308. doi: 10.1093/hmg/ddz058. 2019
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| 7 | MSI2, PIWIL1, TBX1
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| RNA binding protein Musashi-2 regulates PIWIL1 and TBX1 in mouse spermatogenesis.
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| Sutherland JM, Sobinoff AP, Fraser BA, Redgrove KA, Siddall NA, Koopman P, Hime GR, McLaughlin EA.
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| J Cell Physiol 233(4):3262-3273. doi: 10.1002/jcp.26168. Epub 2017 Oct 4.
2018
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| 8 | DEL22Q11, TBX1
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| A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.
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| Xu Y, Fang S, Zhang E, Pu T, Cao R, Fu Q, Li F, Chen S, Sun K, Xu R.
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| Sci Rep 7:44165. doi: 10.1038/srep44165.
2017
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| 9 | EOMES, T, TBX1, TBX15, TBX18, TBX2, TBX3, TBX4, TBX5
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| The Roles of T-Box Genes in Vertebrate Limb Development.
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| Sheeba CJ, Logan MP.
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| Curr Top Dev Biol 122:355-381. doi: 10.1016/bs.ctdb.2016.08.009. Epub 2016 Oct 5.
2017
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| 10 | TBX1, TBX18, TBX2, TBX20, TBX3
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| T-Box Genes in the Kidney and Urinary Tract.
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| Kispert A.
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| Curr Top Dev Biol 122:245-278. doi: 10.1016/bs.ctdb.2016.06.002. Epub 2016 Jul 27.
2017
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| 11 | DEL22Q11, TBX1
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| Mapping cellular processes in the mesenchyme during palatal development in the absence of Tbx1 reveals complex proliferation changes and perturbed cell packing and polarity.
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| Brock LJ, Economou AD, Cobourne MT, Green JB.
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| J Anat 228(3):464-73. doi: 10.1111/joa.12425. Epub 2015 Dec 22.
2016
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| 12 | KDR, TBX1
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| TBX1 Represses Vegfr2 Gene Expression and Enhances the Cardiac Fate of VEGFR2+ Cells.
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| Lania G, Ferrentino R, Baldini A.
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| PLoS One 10(9):e0138525. doi: 10.1371/journal.pone.0138525. eCollection 2015 Sep 18.
2015
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| 13 | CTHMT, TBX1
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| A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.
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| Pan Y, Wang ZG, Liu XY, Zhao H, Zhou N, Zheng GF, Qiu XB, Li RG, Yuan F, Shi HY, Hou XM, Yang YQ.
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| Pediatr Cardiol 36(7):1400-10. doi: 10.1007/s00246-015-1173-x. Epub 2015 Apr 10.
2015
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| 14 | TBX1
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| TBX1 regulates epithelial polarity and dynamic basal filopodia in the second heart field.
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| Francou A, Saint-Michel E, Mesbah K, Kelly RG.
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| Development 141(22):4320-31. doi: 10.1242/dev.115022.
2014
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| 15 | FGF8, TBX1
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| Tbx1 controls the morphogenesis of pharyngeal pouch epithelia through mesodermal Wnt11r and Fgf8a.
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| Choe CP, Crump JG.
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| Development 141(18):3583-93. doi: 10.1242/dev.111740. Epub 2014 Aug 19.
2014
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| 16 | TBX1
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| Prdm1 functions in the mesoderm of the second heart field, where it interacts genetically with Tbx1, during outflow tract morphogenesis in the mouse embryo.
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| Vincent SD, Mayeuf-Louchart A, Watanabe Y, Brzezinski JA 4th, Miyagawa-Tomita S, Kelly RG, Buckingham M.
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| Hum Mol Genet 23(19):5087-101. doi: 10.1093/hmg/ddu232. Epub 2014 May 12.
2014
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| 17 | TBX1
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| Endoderm-specific deletion of Tbx1 reveals an FGF-independent role for Tbx1 in pharyngeal apparatus morphogenesis.
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| Jackson A, Kasah S, Mansour SL, Morrow B, Basson MA.
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| Dev Dyn 243(9):1143-51. doi: 10.1002/dvdy.24147. Epub 2014 Jun 12.
2014
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| 18 | TBX1
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| Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication.
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| Kong P, Racedo SE, Macchiarulo S, Hu Z, Carpenter C, Guo T, Wang T, Zheng D, Morrow BE.
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| Hum Mol Genet 23(16):4215-31. doi: 10.1093/hmg/ddu140. Epub 2014 Apr 4.
2014
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| 19 | TBX1
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| Tbx1 modulates endodermal and mesodermal differentiation from mouse induced pluripotent stem cells.
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| Yan Y, Su M, Song Y, Tang Y, Tian XC, Rood D, Lai L.
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| Stem Cells Dev 23(13):1491-500. doi: 10.1089/scd.2013.0488. Epub 2014 Apr 2.
2014
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| 20 | TBX1
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| Tbx1 regulates brain vascularization.
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| Cioffi S, Martucciello S, Fulcoli FG, Bilio M, Ferrentino R, Nusco E, Illingworth E.
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| Hum Mol Genet 23(1):78-89. doi: 10.1093/hmg/ddt400. Epub 2013 Aug 14.
2014
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| 21 | SMAD7, TBX1
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| Tbx1 genetically interacts with the transforming growth factor-β/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling.
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| Papangeli I, Scambler PJ.
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| Circ Res 112(1):90-102. doi: 10.1161/CIRCRESAHA.112.270223. Epub 2012 Sep 25.
2013
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| 22 | SMARCD1, TBX1
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| Transcriptional control in cardiac progenitors: Tbx1 interacts with the BAF chromatin remodeling complex and regulates Wnt5a.
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| Chen L, Fulcoli FG, Ferrentino R, Martucciello S, Illingworth EA, Baldini A.
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| PLoS Genet 8(3):e1002571. Epub 2012 Mar 15.
2012
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| 23 | TBX1
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| Tbx1 regulates oral epithelial adhesion and palatal development.
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| Funato N, Nakamura M, Richardson JA, Srivastava D, Yanagisawa H.
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| Hum Mol Genet 21(11):2524-37. Epub 2012 Feb 27.
2012
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| 24 | DEL22Q11, DEL22Q11D, TBX1
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| Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
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| Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW.
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| Am J Med Genet A 158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14.
2012
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| 25 | DEL22Q11, KAT6A, TBX1
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| MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome.
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| Voss AK, Vanyai HK, Collin C, Dixon MP, McLennan TJ, Sheikh BN, Scambler P, Thomas T.
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| Dev Cell 23(3):652-63. doi: 10.1016/j.devcel.2012.07.010. Epub 2012 Aug 23. 2012
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| 26 | DEL22Q11, TBX1
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| Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
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| Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; and the International Chromosome 22q11.
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| Am J Med Genet A 158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3.
2012
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| 27 | MEF2C, TBX1
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| Tbx1 is a negative modulator of Mef2c.
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| Pane LS, Zhang Z, Ferrentino R, Huynh T, Cutillo L, Baldini A.
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| Hum Mol Genet 21(11):2485-96. doi: 10.1093/hmg/dds063. Epub 2012 Feb 24.
2012
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| 28 | TBX1
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| Identification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear development.
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| Monks DC, Morrow BE.
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| Dev Dyn 241(3):563-73. doi: 10.1002/dvdy.23731. Epub 2012 Feb 1.
2012
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| 29 | RIPPLY3, TBX1
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| RIPPLY3 is a retinoic acid-inducible repressor required for setting the borders of the pre-placodal ectoderm.
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| Janesick A, Shiotsugu J, Taketani M, Blumberg B.
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| Development 139(6):1213-24. doi: 10.1242/dev.071456.
2012
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| 30 | DEL22Q11, TBX1
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| Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
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| Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; International Chromosome 22q11.
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| Hum Mutat 32(11):1278-89. doi: 10.1002/humu.21568. Epub 2011 Sep 16.
2011
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| 31 | TBX1
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| Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model.
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| Hiramoto T, Kang G, Suzuki G, Satoh Y, Kucherlapati R, Watanabe Y, Hiroi N.
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| Hum Mol Genet 20(24):4775-85. doi: 10.1093/hmg/ddr404. Epub 2011 Sep 9.
2011
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| 32 | TBX1
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| A novel role for the T-box transcription factor Tbx1 as a negative regulator of tumor cell growth in mice.
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| Trempus CS, Wei SJ, Humble MM, Dang H, Bortner CD, Sifre MI, Kissling GE, Sunman JA, Akiyama SK, Roberts JD, Tucker CJ, Chun KS, Tennant RW, Langenbach R.
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| Mol Carcinog 50(12):981-91. doi: 10.1002/mc.20768. Epub 2011 Mar 22.
2011
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| 33 | RIPPLY3, TBX1
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| Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice.
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| Okubo T, Kawamura A, Takahashi J, Yagi H, Morishima M, Matsuoka R, Takada S.
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| Development 138(2):339-48. doi: 10.1242/dev.054056. 2011
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| 34 | BMP4, TBX1
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| Inactivation of Bmp4 from the Tbx1 expression domain causes abnormal pharyngeal arch artery and cardiac outflow tract remodeling.
|
| Nie X, Brown CB, Wang Q, Jiao K.
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| Cells Tissues Organs 193(6):393-403. doi: 10.1159/000321170. Epub 2010 Dec 1.
2011
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| 35 | CSX, CTHM1, DEL22Q11, ICHD, JAG1, NKX2-5, TBX1, TRI21
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| Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
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| Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A.
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| J Med Genet 47(5):321-31. Epub 2009 Nov 30.PMID: 19948535 2010
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| 36 | ASH2L, TBX1
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| Ash2l interacts with Tbx1 and is required during early embryogenesis.
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| Stoller JZ, Huang L, Tan CC, Huang F, Zhou DD, Yang J, Gelb BD, Epstein JA.
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| Exp Biol Med (Maywood) 235(5):569-76.
2010
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| 37 | TBX1
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| Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21.
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| Cao H, Florez S, Amen M, Huynh T, Skobe Z, Baldini A, Amendt BA.
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| Dev Biol 347(2):289-300. doi: 10.1016/j.ydbio.2010.08.031. Epub 2010 Sep 15.
2010
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| 38 | TBX1
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| Mesodermal Tbx1 is required for patterning the proximal mandible in mice.
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| Aggarwal VS, Carpenter C, Freyer L, Liao J, Petti M, Morrow BE.
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| Dev Biol 344(2):669-81. doi: 10.1016/j.ydbio.2010.05.496. Epub 2010 May 23.
2010
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| 39 | TBX1
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| Tbx1 is necessary for palatal elongation and elevation.
|
| Goudy S, Law A, Sanchez G, Baldwin HS, Brown C.
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| Mech Dev 127(5-6):292-300. doi: 10.1016/j.mod.2010.03.001. Epub 2010 Mar 7.
2010
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| 40 | CHRD, TBX1
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| Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.
|
| Choi M, Klingensmith J.
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| PLoS Genet 5(2):e1000395. Epub 2009 Feb 27.
2009
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| 41 | DEL22Q11, TBX1
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| Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
|
| Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF.
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| Eur J Med Genet 52(5):321-7. Epub 2009 May 23.
2009
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| 42 | TBX1
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| Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome.
|
| Meechan DW, Tucker ES, Maynard TM, LaMantia AS.
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| Proc Natl Acad Sci U S A 106(38):16434-45. Epub 2009 Sep 10.PMID: 19805316 2009
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| 43 | GBX2, TBX1
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| Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm.
|
| Calmont A, Ivins S, Van Bueren KL, Papangeli I, Kyriakopoulou V, Andrews WD, Martin JF, Moon AM, Illingworth EA, Basson MA, Scambler PJ.
|
| Development 136(18):3173-83.
2009
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| 44 | ASD2, ASD3, GATA4, ICHD, JAG1, MYH6, NKX2-5, NOTCH1, TBX1, TBX20, TBX5, TFAP2B, THRAP2
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| The developmental genetics of congenital heart disease.
|
| Bruneau BG.
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| Nature 451(7181):943-8. 2008
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| 45 | TBX1
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| Identification of downstream genetic pathways of Tbx1 in the second heart field.
|
| Liao J, Aggarwal VS, Nowotschin S, Bondarev A, Lipner S, Morrow BE.
|
| Dev Biol 316(2):524-37. Epub 2008 Feb 13.PMID: 18328475 2008
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| 46 | POU3F4, TBX1
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| Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation.
|
| Braunstein EM, Crenshaw EB 3rd, Morrow BE, Adams JC.
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| J Assoc Res Otolaryngol 9(1):33-43. Epub 2008 Jan 30.
2008
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| 47 | TBX1, VCF, DEL22Q11
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| Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions.
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| Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A.
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| Am J Hum Genet 80(3):510-7. Epub 2007 Jan 18. 2007
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| 48 | TBX1, DEL22Q11
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| The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning.
|
| Fagman H, Liao J, Westerlund J, Andersson L, Morrow BE, Nilsson M.
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| Hum Mol Genet 16(3):276-85. Epub 2006 Dec 12. 2007
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| 49 | PITX2, TBX1
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| Cranial muscle defects of Pitx2 mutants result from specification defects in the first branchial arch.
|
| Shih HP, Gross MK, Kioussi C.
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| Proc Natl Acad Sci U S A 104(14):5907-12. Epub 2007 Mar 23. 2007
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| 50 | DEL22Q11,DUP22Q11,TBX1
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| Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
|
| Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, Garcia-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suner D.
|
| Eur J Hum Genet 15(6):658-63. Epub 2007 Mar 21. 2007
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| 51 | TBX1
|
| Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells.
|
| Xu H, Viola A, Zhang Z, Gerken CP, Lindsay-Illingworth EA, Baldini A.
|
| Dev Biol 302(2):670-82. Epub 2006 Oct 6.
2007
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| 52 | TBX1, DEL22Q11
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| Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome.
|
| Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, Murphy KC, Monks S, Williams N, O'donovan MC, Owen MJ, Scambler PJ, Lindsay E.
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| Proc Natl Acad Sci U S A 103(20):7729-34. Epub 2006 May 9. 2006
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| 53 | CHARGE, CHD7, DEL22Q11, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCJ, MYCN, ODED1, SALL1, TBS, TBX1, VACTERLH
|
| Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.
|
| Shaw-Smith C.
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| J Med Genet 43(7):545-54. Epub 2005 Nov 18. Review. 2006
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| 54 | DEL22Q11, TBX1
|
| Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
|
| Stoller JZ, Epstein JA.
|
| Hum Mol Genet 14(7):885-92. Epub 2005 Feb 9. 2005
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| 55 | TBX1, DEL22Q11
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| Dissecting contiguous gene defects: TBX1.
|
| Baldini A.
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| Curr Opin Genet Dev 15(3):279-84. 2005
|
| 56 | TBX1,TBX3, TBX4, TBX5
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| T-box genes and congenital heart/limb malformations.
|
| Isphording D, Leylek AM, Yeung J, Mischel A, Simon HG.
|
| Clin Genet 66(4):253-64. 2004
|
| 57 | TBX1
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| The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.
|
| Kelly RG, Jerome-Majewska LA, Papaioannou VE.
|
| Hum Mol Genet 13(22):2829-40. Epub 2004 Sep 22. 2004
|
| 58 | DEL22Q11, TBX1
|
| Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.
|
| Rauch A, Devriendt K, Koch A, Rauch R, Gewillig M, Kraus C, Weyand M, Singer H, Reis A, Hofbeck M.
|
| J Med Genet 41(4):e40. No abstract available. 2004
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| 59 | TBX1, VEGFA, DEL22Q11
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| VEGF: A modifier of the del22q11 (DiGeorge) syndrome
|
| Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, Kneer P, Von Der Ohe M, Swillen A, Maes C, Gewillig M, Molin DG, Hellings P, Boetel T, Haardt M, Compernolle V, Dewerchin M, Plaisance S, Vlietinck R, Emanuel B, Gittenberger-De Groot AC, Scambler P, Morrow B, Driscol DA, Moons L, Esguerra CV, Carmeliet G, Behn-Krappa A, Devriendt K, Collen D, Conway SJ, Carmeliet P.
|
| Nat Med 9(2):173-82. 2003
|
| 60 | TBX1
|
| TBX1 is required for inner ear morphogenesis.
|
| Vitelli F, Viola A, Morishima M, Pramparo T, Baldini A, Lindsay E.
|
| Hum Mol Genet 12(16):2041-8. 2003
|
| 61 | DEL22Q11, TBX1
|
| DiGeorge's syndrome: a gene at last.
|
| Baldini A.
|
| Lancet 362(9393):1342-3. No abstract available. 2003
|
| 62 | DEL22Q11, TBX1
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| Role of TBX1 in human del22q11.2 syndrome.
|
| Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R.
|
| Lancet 362(9393):1366-73. 2003
|
| 63 | TBX1
|
| Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.
|
| Vitelli F, Morishima M, Taddei I, Lindsay EA, Baldini A.
|
| Hum Mol Genet 11(8):915-22. 2002
|
| 64 | TBX1
|
| Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome.
|
| Wechsler J, Greene M, McDevitt MA, Anastasi J, Karp JE, Le Beau MM, Crispino JD.
|
| Nat Genet 32(1):148-52. 2002
|
| 65 | FLI1, TBX1, GP6, SPI1
|
| Cloning and analysis of the thrombopoietin-induced megakaryocyte-specific glycoprotein VI promoter and its regulation by GATA-1, Fli-1, and Sp1.
|
| Holmes ML, Bartle N, Eisbacher M, Chong BH.
|
| J Biol Chem 277(50):48333-41. 2002
|
| 66 | CEBPE, TBX1, PRG2, SPI1
|
| Novel combinatorial interactions of GATA-1, PU.1, and C/EBPepsilon isoforms regulate transcription of the gene encoding eosinophil granule major basic protein.
|
| Du J, Stankiewicz MJ, Liu Y, Xi Q, Schmitz JE, Lekstrom-Himes JA, Ackerman SJ.
|
| J Biol Chem 277(45):43481-94. 2002
|
| 67 | TBX1
|
| Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.
|
| Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A.
|
| Nature 410(6824):97-101. 2001
|
| 68 | TBX1
|
| DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.
|
| Jerome LA, Papaioannou VE.
|
| Nat Genet 27(3):286-91. 2001
|
| 69 | CTHMT, TBX1
|
| TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.
|
| Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R.
|
| Cell 104(4):619-29. 2001
|
| 70 | TBX1
|
| Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.
|
| Funke B, Epstein JA, Kochilas LK, Lu MM, Pandita RK, Liao J, Bauerndistel R, Schuler T, Schorle H, Brown MC, Adams J, Morrow BE.
|
| Hum Mol Genet 10(22):2549-56. 2001
|
| 71 | CDATX, TBX1
|
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