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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. Merscher S, et al. Cell. 2001 Feb 23;104(4):619-29. doi: 10.1016/s0092-8674(01)00247-1. Cell. 2001. PMID: 11239417 Free article.
Impaired genomic stability and increased oxidative stress exacerbate different features of Ataxia-telangiectasia.
Ziv S, Brenner O, Amariglio N, Smorodinsky NI, Galron R, Carrion DV, Zhang W, Sharma GG, Pandita RK, Agarwal M, Elkon R, Katzin N, Bar-Am I, Pandita TK, Kucherlapati R, Rechavi G, Shiloh Y, Barzilai A. Ziv S, et al. Among authors: carrion dv. Hum Mol Genet. 2005 Oct 1;14(19):2929-43. doi: 10.1093/hmg/ddi324. Epub 2005 Sep 8. Hum Mol Genet. 2005. PMID: 16150740