T Jeffrey Keen

Summary

Affiliation: University of Leeds
Country: UK

Publications

  1. ncbi request reprint Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
    T Jeffrey Keen
    Molecular Medicine Unit, University of Leeds, UK
    Eur J Hum Genet 10:245-9. 2002
  2. ncbi request reprint PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor
    Hiroshi Maita
    Department of Molecular Biology, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo 060 0812, Japan
    Exp Cell Res 300:283-96. 2004
  3. ncbi request reprint Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
    Christina 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
  4. ncbi request reprint Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate
    Louise 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

Collaborators

  • Chris F Inglehearn
  • H J Bolz
  • B Wissinger
  • Thomas Rosenberg
  • Eranga N Vithana
  • M J Aldred
  • Hiroshi Maita
  • Louise M Downey
  • Christina F Chakarova
  • Hiroyoshi Ariga
  • Sanae M M Iguchi-Ariga
  • Hirotake Kitaura
  • Anthony T Moore
  • Andrew R Webster
  • Alan C Bird
  • Catherine Willis
  • John McHale
  • Alan Mighell
  • Matthew M Hims
  • Andreas Gal
  • Shomi S Bhattacharya
  • Myrto G Papaioannou
  • Reshma J Patel
  • Leen Abu-Safieh
  • David Hunt
  • Steven P Robertson
  • Steven Fayle
  • Ismail K Jalili

Detail Information

Publications4

  1. ncbi request reprint Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
    T 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...
  2. ncbi request reprint PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor
    Hiroshi 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...
  3. ncbi request reprint Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
    Christina 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...
  4. ncbi request reprint Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate
    Louise 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...