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Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene ( CRX ) Essential for Maintenance of the Photoreceptor
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
- C. Toomes, H. M. Bottomley, C. Inglehearn
- Biology, MedicineAmerican journal of human genetics
- 1 April 2004
A second gene at the EVR1 locus, low-density-lipoprotein receptor-related protein 5 (LRP5), a Wnt coreceptor is described, which further underlines the significance of Wnt signaling in the vascularization of the eye and highlights the potential dangers of using multiple families to refine genetic intervals in gene-identification studies.
RANTES stimulates Ca2+ mobilization and inositol trisphosphate (IP3) formation in cells transfected with G protein‐coupled receptor 75
- A. Ignatov, J. Robert, C. Gregory‐Evans, H. Schaller
- BiologyBritish journal of pharmacology
- 1 November 2006
It is shown for the first time that RANTES activates the orphan G protein‐coupled receptor 75 (GPR75) in T‐lymphocyte activation and proliferation.
Ocular coloboma: a reassessment in the age of molecular neuroscience
- C. Gregory‐Evans, M. J. Williams, S. Halford, K. Gregory-Evans
- MedicineJournal of Medical Genetics
- 1 December 2004
Through work to identify genes underlying inherited coloboma, significant inroads are being made into understanding the molecular events controlling closure of the optic fissure.
Retinoblastoma Has Properties of a Cone Precursor Tumor and Depends Upon Cone-Specific MDM2 Signaling
Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects.
- C. Gregory‐Evans, Xia Wang, K. Wasan, Jinying Zhao, A. Metcalfe, K. Gregory-Evans
- BiologyThe Journal of clinical investigation
- 2 January 2014
Observations suggest that the eye retains marked developmental plasticity into the postnatal period and remains sensitive to molecular remodeling and indicates that other neurological developmental anomalies associated with dosage-sensitive genetic mutations may be reversible through nonsense suppression therapeutics.
Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa.
Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development.
It is demonstrated that this gene is also expressed in the inner nuclear layer (INL) of the human and mouse retina by in situ hybridization and immunocytochemistry, which supports concerns about the extent to which rodent models regarding embryonic development and disease pathophysiology can be extrapolated.
Focused Magnetic Stem Cell Targeting to the Retina Using Superparamagnetic Iron Oxide Nanoparticles
The results suggest that magnetic cell delivery is the best approach for controlled delivery of cells to the outer retina—the focus for disease in age-related macular degeneration and retinitis pigmentosa.
Ex vivo gene therapy using intravitreal injection of GDNF-secreting mouse embryonic stem cells in a rat model of retinal degeneration
Mouse embryonic stem cells engineered to secrete glial cell-derived neurotrophic factor exerted a neuroprotective effect for at least three months on retinal structure in the TgN S334ter rat model of retinal degeneration.