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The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans.

Piotrowski T, Ahn DG, Schilling TF, Nair S, Ruvinsky I, Geisler R, Rauch GJ, Haffter P, Zon LI, Zhou Y, Foott H, Dawid IB, Ho RK.

Development. 2003 Oct;130(20):5043-52.


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. 2002 Apr 15;11(8):915-22.


Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development.

Garg V, Yamagishi C, Hu T, Kathiriya IS, Yamagishi H, Srivastava D.

Dev Biol. 2001 Jul 1;235(1):62-73.


Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome.

Ryckebüsch L, Bertrand N, Mesbah K, Bajolle F, Niederreither K, Kelly RG, Zaffran S.

Circ Res. 2010 Mar 5;106(4):686-94. doi: 10.1161/CIRCRESAHA.109.205732. Epub 2010 Jan 28.


Embryonic expression of Tbx1, a DiGeorge syndrome candidate gene, in the lamprey Lampetra fluviatilis.

Sauka-Spengler T, Le Mentec C, Lepage M, Mazan S.

Gene Expr Patterns. 2002 Nov;2(1-2):99-103.


[Effect of external retinoic acid on Tbx1 gene during zebrafish embryogenesis].

Zhang LF, Gui YH, Zhong T, Wang YX, Qian LX, Dong YX, Jiang Q, Sun SN, Song HY.

Zhonghua Er Ke Za Zhi. 2007 Apr;45(4):267-71. Chinese.


The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.

Kelly RG, Jerome-Majewska LA, Papaioannou VE.

Hum Mol Genet. 2004 Nov 15;13(22):2829-40. Epub 2004 Sep 22.


Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development.

Zhang Z, Huynh T, Baldini A.

Development. 2006 Sep;133(18):3587-95. Epub 2006 Aug 16.


22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

Scambler PJ.

Pediatr Cardiol. 2010 Apr;31(3):378-90. doi: 10.1007/s00246-009-9613-0. Review.


Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.

Arnold JS, Werling U, Braunstein EM, Liao J, Nowotschin S, Edelmann W, Hebert JM, Morrow BE.

Development. 2006 Mar;133(5):977-87. Epub 2006 Feb 1.


Tbx1 is required for proper neural crest migration and to stabilize spatial patterns during middle and inner ear development.

Moraes F, Nóvoa A, Jerome-Majewska LA, Papaioannou VE, Mallo M.

Mech Dev. 2005 Feb;122(2):199-212.


Effect of Tbx1 knock-down on cardiac performance in zebrafish.

Zhang LF, Gui YH, Wang YX, Jiang Q, Song HY.

Chin Med J (Engl). 2010 May 5;123(9):1182-9.


Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations.

Escot S, Blavet C, Faure E, Zaffran S, Duband JL, Fournier-Thibault C.

Development. 2016 Feb 15;143(4):582-8. doi: 10.1242/dev.126573. Epub 2016 Jan 11.


Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage.

Liao J, Kochilas L, Nowotschin S, Arnold JS, Aggarwal VS, Epstein JA, Brown MC, Adams J, Morrow BE.

Hum Mol Genet. 2004 Aug 1;13(15):1577-85. Epub 2004 Jun 9.


Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.

Huh SH, Ornitz DM.

Development. 2010 Apr;137(7):1137-47. doi: 10.1242/dev.045534.


TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid.

Zhang L, Zhong T, Wang Y, Jiang Q, Song H, Gui Y.

Int J Dev Biol. 2006;50(1):55-61.


DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiation.

Choudhry P, Trede NS.

PLoS One. 2013;8(3):e58145. doi: 10.1371/journal.pone.0058145. Epub 2013 Mar 22.


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. 2001 Mar 1;410(6824):97-101.

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