... in optic cup morphogenesis, including microphthalmia, anophthalmia and coloboma. References Acampora , D. , Gulisano , M. , Broccoli , V. and Simeone , A. ( 2001 ). Otx genes in brain morphogenesis . Prog. Neurobiol. 64 , 69 - 95 . 10.1016/S0301-0082(00)00042-3...

... primordium, Meis1 coordinates, in a dose-dependent manner, retinal proliferation and differentiation by regulating genes responsible for human microphthalmia and components of the Notch signaling pathway. In addition, Meis1 is required for eye patterning by controlling a set of eye territory-specific...

... vasculature is unknown. In this study we explored the function of Vhl and Hif1a in the developing RPE using a tissue-specific conditional-knockout approach. We found that deletion of Vhl in the RPE results in RPE apoptosis, aniridia and microphthalmia. Increased levels of Hif1a, Hif2a, Epo and Vegf...

... biosynthetic pathways: pigmentation defects and microphthalmia result from deficiencies in a GTP synthesis pathway and an ATP synthesis pathway,respectively. In the absence of ATP pathway activity, S phase of proliferative retinoblasts is prolonged and cell cycle exit is compromised, which results...

...Chunqiao Liu; Jeremy Nathans Microphthalmia, coloboma and persistent fetal vasculature within the vitreous cavity are among the most common human congenital ocular anomalies,and each has been associated with a variety of genetic disorders. Here we show that, in the mouse, loss of frizzled 5 (Fz5...

... Kip1 . We find that p27 Kip1 is abnormally present in progenitors of Chx10 -null retinas, and that its ectopic localization is responsible for a significant amount of the proliferation defect in this microphthalmia model system. mRNA and protein expression patterns in these mice and in cyclin D1-null...

... (Cx46) and α1 (Cx43), and which are encoded by three different genes. In a previous study, we reported that, with a disruption of Gja3 (α3 connexin), mice developed nuclear cataracts with a normal sized lens. We show that Gja8tm1 (α8–/–) mice develop microphthalmia with small lenses and nuclear...

... in melanophores. We show that nac w2 is a mutation in a zebrafish gene encoding a basic helix-loop-helix/leucine zipper transcription factor related to microphthalmia ( Mitf ), a gene known to be required for development of eye and crest pigment cells in the mouse. Transient expression of the wild-type nacre gene...

...C. L. Scholtz; K. K. Chan A study of the development of the eye in the cinnamon mouse, homozygous for the gene for microphthalmia (mi) , has shown that the microphthalmia is due to failure of secondary vitreous formation associated with a coloboma. The retina is dystrophic but there is a residual...