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  • Abu-Issa R, Smyth G, Smoak I, Yamamura K, Meyers EN. 2002. Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development 129: 46134625.
  • Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, Shanske A, Campione M, Morrow BE. 2006. Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. Hum Mol Genet 15: 32193228.
  • Arnold JS, Braunstein EM, Ohyama T, Groves AK, Adams JC, Brown MC, Morrow BE. 2006a. Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet 15: 16291639.
  • Arnold JS, Werling U, Braunstein EM, Liao J, Nowotschin S, Edelmann W, Hebert JM, Morrow BE. 2006b. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development 133: 977987.
  • Baldini A. 2005. Dissecting contiguous gene defects: TBX1. Curr Opin Genet Dev 15: 279284.
  • Basson MA, Akbulut S, Watson-Johnson J, Simon R, Carroll TJ, Shakya R, Gross I, Martin GR, Lufkin T, McMahon AP, Wilson PD, Costantini FD, Mason IJ, Licht JD. 2005. Sprouty1 is a critical regulator of GDNF/RET-mediated kidney induction. Dev Cell 8: 229239.
  • Basson MA, Echevarria D, Ahn CP, Sudarov A, Joyner AL, Mason IJ, Martinez S, Martin GR. 2008. Specific regions within the embryonic midbrain and cerebellum require different levels of FGF signaling during development. Development 135: 889898.
  • Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM. 2003. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112: 101107.
  • Brown CB, Wenning JM, Lu MM, Epstein DJ, Meyers EN, Epstein JA. 2004. Cre-mediated excision of Fgf8 in the Tbx1 expression domain reveals a critical role for Fgf8 in cardiovascular development in the mouse. Dev Biol 267: 190202.
  • Carlson C, Papolos D, Pandita RK, Faedda GL, Veit S, Goldberg R, Shprintzen R, Kucherlapati R, Morrow B. 1997. Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. Am J Hum Genet 60: 851859.
  • Chambers D, Medhurst AD, Walsh FS, Price J, Mason I. 2000. Differential display of genes expressed at the midbrain - hindbrain junction identifies sprouty2: an FGF8-inducible member of a family of intracellular FGF antagonists. Mol Cell Neurosci 15: 2235.
  • Chen L, Fulcoli FG, Tang S, Baldini A. 2009. Tbx1 regulates proliferation and differentiation of multipotent heart progenitors. Circ Res 105: 842851.
  • Choi M, Klingensmith J. 2009. Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLoS Genet 5: e1000395.
  • Driscoll DA, Boland T, Emanuel BS, Kirschner RE, LaRossa D, Manson J, McDonald-McGinn D, Randall P, Solot C, Zackai E, Mitchell LE. 2006. Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome. Cleft Palate Craniofac J 43: 435441.
  • Eichenauer DA, Bredenfeld H, Haverkamp H, Muller H, Franklin J, Fuchs M, Borchmann P, Muller-Hermelink HK, Eich HT, Muller RP, Diehl V, Engert A. 2009. Hodgkin's lymphoma in adolescents treated with adult protocols: a report from the German Hodgkin study group. J Clin Oncol 27: 60796085.
  • Frank DU, Fotheringham LK, Brewer JA, Muglia LJ, Tristani-Firouzi M, Capecchi MR, Moon AM. 2002. An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Development 129: 45914603.
  • Fulcoli FG, Huynh T, Scambler PJ, Baldini A. 2009. Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner. PLoS One 4: e6049.
  • Funke B, Epstein JA, Kochilas LK, Lu MM, Pandita RK, Liao J, Bauerndistel R, Schuler T, Schorle H, Brown MC, Adams J, Morrow BE. 2001. Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. Hum Mol Genet 10: 25492556.
  • Garg V, Yamagishi C, Hu T, Kathiriya IS, Yamagishi H, Srivastava D. 2001. Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev Biol 235: 6273.
  • Goldmuntz E, Driscoll DA, Emanuel BS, McDonald-McGinn D, Mei M, Zackai E, Mitchell LE. 2009. Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol 85: 125129.
  • Gong W, Gottlieb S, Collins J, Blescia A, Dietz H, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Budarf ML. 2001. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet 38: E45.
  • Goodship J, Cross I, Scambler P, Burn J. 1995. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet 32: 746748.
  • Guris DL, Duester G, Papaioannou VE, Imamoto A. 2006. Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. Dev Cell 10: 8192.
  • Hanafusa H, Torii S, Yasunaga T, Nishida E. 2002. Sprouty1 and Sprouty2 provide a control mechanism for the Ras/MAPK signalling pathway. Nat Cell Biol 4: 850858.
  • Herbst C, Rehan FA, Brillant C, Bohlius J, Skoetz N, Schulz H, Monsef I, Specht L, Engert A. 2010. Combined modality treatment improves tumor control and overall survival in patients with early stage Hodgkin's lymphoma: a systematic review. Haematologica 95: 494500.
  • Hillebrand G, Siebert R, Simeoni E, Santer R. 2000. DiGeorge syndrome with discordant phenotype in monozygotic twins. J Med Genet 37: E23.
  • Hiruma T, Nakajima Y, Nakamura H. 2002. Development of pharyngeal arch arteries in early mouse embryo. J Anat 201: 1529.
  • Iatan I, Dastani Z, Do R, Weissglas-Volkov D, Ruel I, Lee JC, Huertas-Vazquez A, Taskinen MR, Prat A, Seidah NG, Pajukanta P, Engert JC, Genest J. 2009. Genetic variation at the proprotein convertase subtilisin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels. Circ Cardiovasc Genet 2: 467475.
  • Jerome LA, Papaioannou VE. 2001. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 27: 286291.
  • Klein OD, Minowada G, Peterkova R, Kangas A, Yu BD, Lesot H, Peterka M, Jernvall J, Martin GR. 2006. Sprouty genes control diastema tooth development via bidirectional antagonism of epithelial-mesenchymal FGF signaling. Dev Cell 11: 181190.
  • Klein OD, Lyons DB, Balooch G, Marshall GW, Basson MA, Peterka M, Boran T, Peterkova R, Martin GR. 2008. An FGF signaling loop sustains the generation of differentiated progeny from stem cells in mouse incisors. Development 135: 377385.
  • Kobrynski LJ, Sullivan KE. 2007. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370: 14431452.
  • Lewandoski M, Meyers EN, Martin GR. 1997. Analysis of Fgf8 gene function in vertebrate development. Cold Spring Harb Symp Quant Biol 62: 159168.
  • Liao J, Kochilas L, Nowotschin S, Arnold JS, Aggarwal VS, Epstein JA, Brown MC, Adams J, Morrow BE. 2004. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet 13: 15771585.
  • Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A. 2001. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410: 97101.
  • Matsumura K, Taketomi T, Yoshizaki K, Arai S, Sanui T, Yoshiga D, Yoshimura A, Nakamura S. 2011. Sprouty2 controls proliferation of palate mesenchymal cells via fibroblast growth factor signaling. Biochem Biophys Res Commun 404: 10761082.
  • McDermid HE, Morrow BE. 2002. Genomic disorders on 22q11. Am J Hum Genet 70: 10771088.
  • 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. 2001. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104: 619629.
  • Minowada G, Jarvis LA, Chi CL, Neubuser A, Sun X, Hacohen N, Krasnow MA, Martin GR. 1999. Vertebrate Sprouty genes are induced by FGF signaling and can cause chondrodysplasia when overexpressed. Development 126: 44654475.
  • Mitsiadis TA, Graf D, Luder H, Gridley T, Bluteau G. 2010. BMPs and FGFs target Notch signalling via jagged 2 to regulate tooth morphogenesis and cytodifferentiation. Development 137: 30253035.
  • Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, et al. 1995. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet 56: 13911403.
  • Nowotschin S, Liao J, Gage PJ, Epstein JA, Campione M, Morrow BE. 2006. Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Development 133: 15651573.
  • Park EJ, Ogden LA, Talbot A, Evans S, Cai CL, Black BL, Frank DU, Moon AM. 2006. Required, tissue-specific roles for Fgf8 in outflow tract formation and remodeling. Development 133: 24192433.
  • Park EJ, Watanabe Y, Smyth G, Miyagawa-Tomita S, Meyers E, Klingensmith J, Camenisch T, Buckingham M, Moon AM. 2008. An FGF autocrine loop initiated in second heart field mesoderm regulates morphogenesis at the arterial pole of the heart. Development 135: 35993610.
  • Randall V, McCue K, Roberts C, Kyriakopoulou V, Beddow S, Barrett AN, Vitelli F, Prescott K, Shaw-Smith C, Devriendt K, Bosman E, Steffes G, Steel KP, Simrick S, Basson MA, Illingworth E, Scambler PJ. 2009. Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest 119: 33013310.
  • Roberts C, Ivins S, Cook AC, Baldini A, Scambler PJ. 2006. Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick. Hum Mol Genet 15: 33943410.
  • Scambler PJ. 2000. The 22q11 deletion syndromes. Hum Mol Genet 9: 24212426.
  • Scambler PJ, Carey AH, Wyse RK, Roach S, Dumanski JP, Nordenskjold M, Williamson R. 1991. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 10: 201206.
  • Schneider JE, Bhattacharya S. 2004. Making the mouse embryo transparent: identifying developmental malformations using magnetic resonance imaging. Birth Defects Res C Embryo Today 72: 241249.
  • Shim K, Minowada G, Coling DE, Martin GR. 2005. Sprouty2, a mouse deafness gene, regulates cell fate decisions in the auditory sensory epithelium by antagonizing FGF signaling. Dev Cell 8: 553564.
  • Simrick S, Lickert H, Basson MA. 2011. Sprouty genes are essential for the normal development of epibranchial ganglia in the mouse embryo. Dev Biol 358: 147155.
  • Sparrow DB, Chapman G, Smith AJ, Mattar MZ, Major JA, O'Reilly VC, Saga Y, Zackai EH, Dormans JP, Alman BA, McGregor L, Kageyama R, Kusumi K, Dunwoodie SL. 2012. A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell 149: 295306.
  • Srivastava D, Olson EN. 2000. A genetic blueprint for cardiac development. Nature 407: 221226.
  • 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. 2003. VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med 9: 173182.
  • Taddei I, Morishima M, Huynh T, Lindsay EA. 2001. Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes. Proc Natl Acad Sci U S A 98: 1142811431.
  • Taniguchi K, Ayada T, Ichiyama K, Kohno R, Yonemitsu Y, Minami Y, Kikuchi A, Maehara Y, Yoshimura A. 2007. Sprouty2 and Sprouty4 are essential for embryonic morphogenesis and regulation of FGF signaling. Biochem Biophys Res Commun 352: 896902.
  • Vincent MC, Heitz F, Tricoire J, Bourrouillou G, Kuhlein E, Rolland M, Calvas P. 1999. 22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes. Genet Couns 10: 4349.
  • Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A. 2002. A genetic link between Tbx1 and fibroblast growth factor signaling. Development 129: 46054611.
  • Vitelli F, Zhang Z, Huynh T, Sobotka A, Mupo A, Baldini A. 2006. Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants. Dev Biol 295: 559570.
  • Vitelli F, Huynh T, Baldini A. 2009. Gain of function of Tbx1 affects pharyngeal and heart development in the mouse. Genesis 47: 188195.
  • Welsh IC, Hagge-Greenberg A, O'Brien TP. 2007. A dosage-dependent role for Spry2 in growth and patterning during palate development. Mech Dev 124: 746761.
  • Wurdak H, Ittner LM, Sommer L. 2006. DiGeorge syndrome and pharyngeal apparatus development. Bioessays 28: 10781086.
  • Xu H, Cerrato F, Baldini A. 2005. Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion. Development 132: 43874395.
  • 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. 2003. Role of TBX1 in human del22q11.2 syndrome. Lancet 362: 13661373.
  • Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, Kimura M, Takao A, Momma K, Matsuo N. 1998. Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am J Med Genet 78: 319321.
  • Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, Meyers EN, Yamagishi C, Srivastava D. 2003. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev 17: 269281.
  • Yang X, Kilgallen S, Andreeva V, Spicer DB, Pinz I, Friesel R. 2010. Conditional expression of Spry1 in neural crest causes craniofacial and cardiac defects. BMC Dev Biol 10: 48.
  • Zhang Z, Baldini A. 2008. In vivo response to high-resolution variation of Tbx1 mRNA dosage. Hum Mol Genet 17: 150157.
  • Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A. 2007. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet 80: 510517.