T Jeffrey Keen
Affiliation: University of Leeds
- Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosaT Jeffrey Keen
Molecular Medicine Unit, University of Leeds, UK
Eur J Hum Genet 10:245-9. 2002..A second missense mutation, D170G, was found in a single RP patient. The putative RP9 gene appears to be expressed in a wide range of tissues, but its function is unknown and a pathogenic mechanism remains to be determined...
- PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factorHiroshi Maita
Department of Molecular Biology, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo 060 0812, Japan
Exp Cell Res 300:283-96. 2004..These results demonstrate that PAP-1 has a role in pre-mRNA splicing and, given that three other splicing factors have been implicated in adRP, this finding provides compelling further evidence that PAP-1 is indeed the RP9 gene...
- Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosaChristina F Chakarova
Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EV, UK
Hum Mol Genet 11:87-92. 2002..The identification of mutations in a third pre-mRNA splicing factor gene further highlights a novel mechanism of photoreceptor degeneration due to defects in the splicing process...
- Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregateLouise M Downey
Molecular Medicine Unit, CSB, St James s University Hospital, Leeds University, Leeds LS9 7TF UK
Eur J Hum Genet 10:865-9. 2002..It remains to be established whether this pedigree is segregating two closely linked mutations causing disparate phenotypes or whether a single defect is causing pathology in both teeth and eyes...