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Loss of Msx2 function down-regulates the FoxE3 expression and results in anterior segment dysgenesis resembling Peters anomaly.

Zhao J, Kawai K, Wang H, Wu D, Wang M, Yue Z, Zhang J, Liu YH.

Am J Pathol. 2012 Jun;180(6):2230-9. doi: 10.1016/j.ajpath.2012.02.017. Epub 2012 Apr 13. Erratum in: Am J Pathol. 2012 Jul;181(1):374.


Foxe3 haploinsufficiency in mice: a model for Peters' anomaly.

Ormestad M, Blixt A, Churchill A, Martinsson T, Enerbäck S, Carlsson P.

Invest Ophthalmol Vis Sci. 2002 May;43(5):1350-7.


Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome.

Herwig MC, Loeffler KU, Gembruch U, Kuchelmeister K, Müller AM.

Pediatr Dev Pathol. 2014 Nov-Dec;17(6):491-5. doi: 10.2350/13-11-1408-CR.1. Epub 2014 Oct 7.


Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.

Wada K, Matsushima Y, Tada T, Hasegawa S, Obara Y, Yoshizawa Y, Takahashi G, Hiai H, Shimanuki M, Suzuki S, Saitou J, Yamamoto N, Ichikawa M, Watanabe K, Kikkawa Y.

PLoS One. 2014 Oct 27;9(10):e111432. doi: 10.1371/journal.pone.0111432. eCollection 2014.


Pitx3 directly regulates Foxe3 during early lens development.

Ahmad N, Aslam M, Muenster D, Horsch M, Khan MA, Carlsson P, Beckers J, Graw J.

Int J Dev Biol. 2013;57(9-10):741-51. doi: 10.1387/ijdb.130193jg.


A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.

Doucette L, Green J, Fernandez B, Johnson GJ, Parfrey P, Young TL.

Eur J Hum Genet. 2011 Mar;19(3):293-9. doi: 10.1038/ejhg.2010.210. Epub 2010 Dec 8.


Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage.

Blixt A, Landgren H, Johansson BR, Carlsson P.

Dev Biol. 2007 Feb 1;302(1):218-29. Epub 2006 Sep 16.


Severe defects in proliferation and differentiation of lens cells in Foxe3 null mice.

Medina-Martinez O, Brownell I, Amaya-Manzanares F, Hu Q, Behringer RR, Jamrich M.

Mol Cell Biol. 2005 Oct;25(20):8854-63.


Intracorneal positioning of the lens in Pax6-GAL4/VP16 transgenic mice.

Govindarajan V, Harrison WR, Xiao N, Liang D, Overbeek PA.

Mol Vis. 2005 Oct 26;11:876-86.


Activation of the hedgehog signaling pathway in the developing lens stimulates ectopic FoxE3 expression and disruption in fiber cell differentiation.

Kerr CL, Huang J, Williams T, West-Mays JA.

Invest Ophthalmol Vis Sci. 2012 Jun 5;53(7):3316-30. doi: 10.1167/iovs.12-9595.


Anterior segment dysgenesis in the eyes of mice deficient for the high-mobility-group transcription factor Sox11.

Wurm A, Sock E, Fuchshofer R, Wegner M, Tamm ER.

Exp Eye Res. 2008 Jun;86(6):895-907. doi: 10.1016/j.exer.2008.03.004. Epub 2008 Mar 12.


Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2.

Weng J, Luo J, Cheng X, Jin C, Zhou X, Qu J, Tu L, Ai D, Li D, Wang J, Martin JF, Amendt BA, Liu M.

Proc Natl Acad Sci U S A. 2008 Apr 22;105(16):6081-6. doi: 10.1073/pnas.0708257105. Epub 2008 Apr 18.


Deficiency of the RNA binding protein caprin2 causes lens defects and features of Peters anomaly.

Dash S, Dang CA, Beebe DC, Lachke SA.

Dev Dyn. 2015 Oct;244(10):1313-27. doi: 10.1002/dvdy.24303. Epub 2015 Aug 7.


FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV.

Am J Med Genet A. 2010 Mar;152A(3):582-90. doi: 10.1002/ajmg.a.33257.


Genetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment.

Nischal KK.

Cornea. 2015 Oct;34 Suppl 10:S24-34. doi: 10.1097/ICO.0000000000000552. Review.


Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.

Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ, Walter MA.

Hum Mol Genet. 2006 Mar 15;15(6):905-19. Epub 2006 Jan 31.


Abnormal eye development associated with Cat4a, a dominant mouse cataract mutation on chromosome 8.

Grimes PA, Koeberlein B, Favor J, Neuhäuser-Klaus A, Stambolian D.

Invest Ophthalmol Vis Sci. 1998 Sep;39(10):1863-9.


A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.

Berker N, Alanay Y, Elgin U, Volkan-Salanci B, Simsek T, Akarsu N, Alikasifoglu M.

Acta Ophthalmol. 2009 Feb;87(1):52-7. doi: 10.1111/j.1600-0420.2007.01082.x. Epub 2008 Jun 19.


Ocular abnormalities in mice lacking the Ski proto-oncogene.

McGannon P, Miyazaki Y, Gupta PC, Traboulsi EI, Colmenares C.

Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4231-7.


Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye.

Collinson JM, Quinn JC, Buchanan MA, Kaufman MH, Wedden SE, West JD, Hill RE.

Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9688-93. Epub 2001 Jul 31.

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