dc.contributor.author | HUMPHRIES, PETER | |
dc.date.accessioned | 2009-11-02T17:17:32Z | |
dc.date.available | 2009-11-02T17:17:32Z | |
dc.date.issued | 2003 | |
dc.date.submitted | 2003 | en |
dc.identifier.citation | Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR `RP1 Consortium. Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP? in Advances in Experimental Medicine and Biology, 533, 2003, pp 1 - 11 | en |
dc.identifier.other | Y | |
dc.identifier.other | 11867 | |
dc.identifier.other | Y | en |
dc.identifier.uri | http://hdl.handle.net/2262/34473 | |
dc.description | PUBLISHED | en |
dc.description.abstract | Given that mutant COL1A1 is known to cause Osteogenesis Imperfecta (OI), tools to modulate COL1A1 expression are likely to be of significant therapeutic value. In this context, we have evaluated RNA interference (RNAi) as a means to downregulate COL1A1 expression in Cos-7 cells and in human mesenchymal progenitor stem cells (MPCs), the latter cells giving rise to bone and therefore representing a target cell type for collagen-related disorders. In addition, allele-specificity, a key factor to the success of RNAi-based suppression, was explored with a view to developing a mutation-independent RNAi-based therapeutic for OI by targeting an intragenic SNP within transcripts derived from the COL1A1 gene. Preferential suppression of individual polymorphic alleles that differed by a single nucleotide was observed. | en |
dc.description.sponsorship | Supported by grants from the Foundation Fighting Blindness and the George Gund Foundation, the William Stamps
Farish Fund, the M.D. Anderson Foundation, the John S. Dunn Foundation, and Alfred W. Lasher III; and by grants
EY05235 (D.G.B), EY07142 (S.P.D.), and EY14170 (S.P.D.) from the National Eye Institute-National Institutes of
Health. | en |
dc.format.extent | 1 | en |
dc.format.extent | 11 | en |
dc.format.extent | 682240 bytes | |
dc.format.mimetype | application/pdf | |
dc.language.iso | en | en |
dc.publisher | Springer | en |
dc.relation.ispartofseries | Advances in Experimental Medicine and Biology | en |
dc.relation.ispartofseries | 533 | en |
dc.rights | Y | en |
dc.subject | RNAi, polymorphism, COL1A1, gene therapy, stem cell, Osteogenesis Imperfecta | en |
dc.title | RP1 Consortium. Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP | en |
dc.type | Journal Article | en |
dc.type.supercollection | scholarly_publications | en |
dc.type.supercollection | refereed_publications | en |
dc.identifier.peoplefinderurl | http://people.tcd.ie/phumphrs | |