J. Sowden

Publications136
h-index39
Citations5,109
Highly Influential Citations305
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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive… Expand
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Restoration of vision after transplantation of photoreceptors
Cell transplantation is a potential strategy for treating blindness caused by the loss of photoreceptors. Although transplanted rod-precursor cells are able to migrate into the adult retina and… Expand
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Repair of the degenerate retina by photoreceptor transplantation
Despite different aetiologies, age-related macular degeneration and most inherited retinal disorders culminate in the same final common pathway, the loss of photoreceptors. There are few treatments… Expand
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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized by a small eye and other ocular… Expand
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Donor and host photoreceptors engage in material transfer following transplantation of post-mitotic photoreceptor precursors
Photoreceptor replacement by transplantation is proposed as a treatment for blindness. Transplantation of healthy photoreceptor precursor cells into diseased murine eyes leads to the presence of… Expand
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Photoreceptor precursors derived from three-dimensional embryonic stem cell cultures integrate and mature within adult degenerate retina
Irreversible blindness caused by loss of photoreceptors may be amenable to cell therapy. We previously demonstrated retinal repair1 and restoration of vision through transplantation of photoreceptor… Expand
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Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH
The optic disc develops at the interface between optic stalk and retina, and enables both the exit of visual fibres and the entrance of mesenchymal cells that will form the hyaloid artery. In spite… Expand
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Fox's in development and disease.
Since the first forkhead (Fox) gene was identified, the importance of this family of transcription factors has increased steadily with the discoveries of the diverse range of developmental processes… Expand
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A review of anterior segment dysgeneses.
The anterior segment dysgeneses are an ill-defined group of ocular developmental abnormalities that share some common features and have a high prevalence of glaucoma. Current classification of what… Expand
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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 cup
BackgroundPolarised gene expression is thought to lead to the graded distribution of signaling molecules providing a patterning mechanism across the embryonic eye. Bone morphogenetic protein 4 (Bmp4)… Expand
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