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Development (2023) 150 (2): dev200399.
Published: 30 January 2023
... in optic cup morphogenesis, including microphthalmia, anophthalmia and coloboma. European Regional Development Fund http://dx.doi.org/10.13039/501100008530 A way of making Europe European Union NextGenerationEU/PRTR ERA-NET Neuron PCI2022-132938/NEURON_NDD-255...
Séverine Marcos, Monica González-Lázaro, Leonardo Beccari, Laura Carramolino, Maria Jesus Martin-Bermejo, Oana Amarie, Daniel Mateos-San Martín, Carlos Torroja, Ozren Bogdanović, Roisin Doohan, Oliver Puk, Martin Hrabě de Angelis, Jochen Graw, Jose Luis Gomez-Skarmeta, Fernando Casares, Miguel Torres, Paola Bovolenta
Development (2015) 142 (17): 3009–3020.
Published: 1 September 2015
... 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...
Includes: Supplementary data
Clemens A. K. Lange, Ulrich F. O. Luhmann, Freya M. Mowat, Anastasios Georgiadis, Emma L. West, Sabu Abrahams, Haroon Sayed, Michael B. Powner, Marcus Fruttiger, Alexander J. Smith, Jane C. Sowden, Patrick H. Maxwell, Robin R. Ali, James W. B. Bainbridge
Development (2012) 139 (13): 2340–2350.
Published: 1 July 2012
... 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...
Includes: Multimedia, Supplementary data
Development (2009) 136 (15): 2601–2611.
Published: 1 August 2009
... 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...
Includes: Supplementary data
Development (2008) 135 (21): 3567–3576.
Published: 1 November 2008
...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...
Development (2003) 130 (3): 539–552.
Published: 1 February 2003
... 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...
Pei Rong, Xin Wang, Ingrid Niesman, Ying Wu, Lucio E. Benedetti, Irene Dunia, Esther Levy, Xiaohua Gong
Development (2002) 129 (1): 167–174.
Published: 1 January 2002
... (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...
Development (1999) 126 (17): 3757–3767.
Published: 1 September 1999
... 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...
Development (1987) 99 (4): 501–508.
Published: 1 April 1987
...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...