Genomes and Genes
J C Sowden
Affiliation: University College London
- Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cellsJ Lakowski
Developmental Biology Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK
Hum Mol Genet 19:4545-59. 2010..We conclude that flow-sorted embryonic-stage Crx-positive donor cells have the potential to replace lost cones, as well as rods, an important requirement for retinal disease therapy...
- Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucomaSoo Park
Tennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK
Mol Vis 18:1526-39. 2012..This study investigates the role of FOXC1, TGFβ2, and BMP4 in POAG...
- The level of BMP4 signaling is critical for the regulation of distinct T-box gene expression domains and growth along the dorso-ventral axis of the optic cupHourinaz Behesti
Developmental Biology Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK
BMC Dev Biol 6:62. 2006..Although it is established that Drosophila Dpp (homologue of vertebrate Bmp4) acts as a morphogen, there is little evidence that BMP4 gradients are interpreted to create domains of BMP4 target gene expression in the mouse...
- Molecular and developmental mechanisms of anterior segment dysgenesisJ C Sowden
Developmental Biology Unit, University College London Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, UK
Eye (Lond) 21:1310-8. 2007..Interplay between PITX2 and FOXC1 in the development of different anterior segment tissues may partly explain the phenotypic variability and the genetic heterogeneity characteristic of ASD...
- Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retinaJ C Sowden
Developmental Biology Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, United Kingdom
Invest Ophthalmol Vis Sci 42:3095-102. 2001..To examine the role of Drosophila optomotor blind (omb)-related T-box genes in development of human and mouse retina...
- Manipulation of the recipient retinal environment by ectopic expression of neurotrophic growth factors can improve transplanted photoreceptor integration and survivalE L West
Department of Genetics, University College London Institute of Ophthalmology, London, UK
Cell Transplant 21:871-87. 2012....
- Targeted disruption of outer limiting membrane junctional proteins (Crb1 and ZO-1) increases integration of transplanted photoreceptor precursors into the adult wild-type and degenerating retinaR A Pearson
Department of Genetics, University College London Institute of Ophthalmology, London, UK
Cell Transplant 19:487-503. 2010..This study shows that targeted disruption of OLM junctional proteins enhances integration in the wild-type and degenerating retina and may be a useful approach for developing photoreceptor transplantation strategies...
- Isolation and characterisation of neural progenitor cells from the adult Chx10(orJ/orJ) central neural retinaI Kokkinopoulos
Developmental Biology Unit, University College London Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Mol Cell Neurosci 38:359-73. 2008..Our results suggest that lack of Chx10 leads to maintenance of a dormant neural progenitor population in the adult CNR. Furthermore, Chx10 is not required for in vitro proliferation of these progenitors...
- Effective transplantation of photoreceptor precursor cells selected via cell surface antigen expressionJ Lakowski
UCL Institute of Child Health, UCL Institute of Ophthalmology, University College London, London, United Kingdom
Stem Cells 29:1391-404. 2011..Refinement of the selection of donorphotoreceptor precursor cells can increase the number of integrated photoreceptor cells,which is a prerequisite for the restoration of sight...
- Foxn4--a new member of the forkhead gene family is expressed in the retinaA Gouge
The Galton Laboratory, Department of Biology, University College London, 4 Stephenson Way, London NW1 2HE, UK
Mech Dev 107:203-6. 2001..Retinal Foxn4 expression is associated with the zone of proliferating progenitor cells. In the mouse mutant ocular retardation (or(J)), Foxn4 expression in the retina is significantly reduced and terminates prematurely...
- Cell transplantation strategies for retinal repairE L West
Department of Genetics, UCL Institute of Ophthalmology, London, UK
Prog Brain Res 175:3-21. 2009..Finally, we consider the future translation of retinal cell therapy as a therapeutic strategy to treat retinal degeneration...
- Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 geneM Meins
Developmental Biology Unit, Neural Development Unit, Institute of Child Health, University College London, London, United Kingdom
Genomics 67:317-32. 2000..The TBX20 gene maps to chromosome 7p14-p15. An association between TBX20 and loci for retinitis pigmentosa, RP9, and blepharophimosis syndrome, BPES, have been excluded...
- Pharmacological disruption of the outer limiting membrane leads to increased retinal integration of transplanted photoreceptor precursorsE L West
Division of Molecular Therapy, University College London, Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
Exp Eye Res 86:601-11. 2008..Reversible disruption of the OLM may provide a strategy for increasing cell integration in future therapeutic applications...
- Restoration of vision after transplantation of photoreceptorsR A Pearson
Department of Genetics, UCL Institute of Ophthalmology, University College London, 11 43 Bath Street, London, EC1V 9EL, UK
Nature 485:99-103. 2012..Together, these results demonstrate the feasibility of photoreceptor transplantation as a therapeutic strategy for restoring vision after retinal degeneration...
- Chromosome abnormalities and the genetics of congenital corneal opacificationA Mataftsi
Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital, London, UK
Mol Vis 17:1624-40. 2011..All reports were critically appraised to classify phenotypes according to described features, rather than the given diagnosis. Some interesting associations were found, and are discussed...
- The identification of novel sequences expressed in the mouse notochordJ C Sowden
MRC Human Biochemical Genetics Unit, Galton Laboratory UCL, London, UK
Mamm Genome 8:42-4. 1997
- Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye developmentL C Bibb
Section of Cell and Molecular Biology, Imperial College School of Medicine, Sir Alexander Fleming Building, Exhibition Road, London SW7 2AZ, UK
Hum Mol Genet 10:1571-9. 2001..These data support concerns about the extent to which we can extrapolate from rodent models regarding embryonic development and disease pathophysiology...
- Human microphthalmia associated with mutations in the retinal homeobox gene CHX10E Ferda Percin
Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, Connecticut, USA
Nat Genet 25:397-401. 2000..The strong conservation in vertebrates of the CHX10 sequence, pattern of expression and loss-of-function phenotypes demonstrates the evolutionary importance of the genetic network through which this gene regulates eye development...
- Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cellsC Grayson
Department of Medical Genetics, The Wellcome Trust Centre for Molecular Mechanisms in Disease, Cambridge Institute for Medical Research, University of Cambridge, Addenbrookes Hospital, Hills Road, Cambridge CB2 2QQ, UK
Hum Mol Genet 9:1873-9. 2000..Thus, X-linked retinoschisis is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a retinal dystrophy...
- Retinal repair by transplantation of photoreceptor precursorsR E MacLaren
Division of Molecular Therapy, University College London Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
Nature 444:203-7. 2006..These findings define the ontogenetic stage of donor cells for successful rod photoreceptor transplantation...
- Structure and methylation patterns of the gene encoding human carbonic anhydrase IN Lowe
Biochemistry Department, University College London, U K
Gene 93:277-83. 1990..In CAI-expressing cells, a region of DNA near the promoter is demethylated in a generally highly methylated background. Surprisingly, non-CAI-expressing cell lines show much lower levels of methylation...