Epstein JA - Search Results

1

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. Liao J, et al. Among authors: epstein ja. Hum Mol Genet. 2004 Aug 1;13(15):1577-85. doi: 10.1093/hmg/ddh176. Epub 2004 Jun 9. Hum Mol Genet. 2004. PMID: 15190012

2

Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field.

Nowotschin S, Liao J, Gage PJ, Epstein JA, Campione M, Morrow BE. Nowotschin S, et al. Among authors: epstein ja. Development. 2006 Apr;133(8):1565-73. doi: 10.1242/dev.02309. Development. 2006. PMID: 16556915

3

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, Schüler T, Schorle H, Brown MC, Adams J, Morrow BE. Funke B, et al. Among authors: epstein ja. Hum Mol Genet. 2001 Oct 15;10(22):2549-56. doi: 10.1093/hmg/10.22.2549. Hum Mol Genet. 2001. PMID: 11709542

4

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. Among authors: epstein ja. Cell. 2001 Feb 23;104(4):619-29. doi: 10.1016/s0092-8674(01)00247-1. Cell. 2001. PMID: 11239417 Free article.

5

The role of neural crest during cardiac development in a mouse model of DiGeorge syndrome.

Kochilas L, Merscher-Gomez S, Lu MM, Potluri V, Liao J, Kucherlapati R, Morrow B, Epstein JA. Kochilas L, et al. Among authors: epstein ja. Dev Biol. 2002 Nov 1;251(1):157-66. doi: 10.1006/dbio.2002.0819. Dev Biol. 2002. PMID: 12413905 Free article.

6

Neural crest migration and mouse models of congenital heart disease.

Gitler AD, Brown CB, Kochilas L, Li J, Epstein JA. Gitler AD, et al. Among authors: epstein ja. Cold Spring Harb Symp Quant Biol. 2002;67:57-62. doi: 10.1101/sqb.2002.67.57. Cold Spring Harb Symp Quant Biol. 2002. PMID: 12858524 Review. No abstract available.

7

Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.

Stoller JZ, Epstein JA. Stoller JZ, et al. Among authors: epstein ja. Hum Mol Genet. 2005 Apr 1;14(7):885-92. doi: 10.1093/hmg/ddi081. Epub 2005 Feb 9. Hum Mol Genet. 2005. PMID: 15703190

8

Fog2 is required for normal diaphragm and lung development in mice and humans.

Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR. Ackerman KG, et al. Among authors: epstein ja. PLoS Genet. 2005 Jul;1(1):58-65. doi: 10.1371/journal.pgen.0010010. Epub 2005 Jun 17. PLoS Genet. 2005. PMID: 16103912 Free PMC article.

9

Developing models of DiGeorge syndrome.

Epstein JA. Epstein JA. Trends Genet. 2001 Oct;17(10):S13-7. doi: 10.1016/s0168-9525(01)02450-7. Trends Genet. 2001. PMID: 11585671 Review.

10

p57Kip2 expression is enhanced during mid-cardiac murine development and is restricted to trabecular myocardium.

Kochilas LK, Li J, Jin F, Buck CA, Epstein JA. Kochilas LK, et al. Among authors: epstein ja. Pediatr Res. 1999 May;45(5 Pt 1):635-42. doi: 10.1203/00006450-199905010-00004. Pediatr Res. 1999. PMID: 10231856

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