R G Roberts

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. ncbi request reprint Dystrophins in vertebrates and invertebrates
    R G Roberts
    Department of Medical Genetics, Addenbrookes Hospital, Cambridge, UK
    Hum Mol Genet 7:589-95. 1998
  2. ncbi request reprint Sequence and chromosomal location of a human homologue of LRPR1, an FSH primary response gene
    R G Roberts
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, United Kingdom
    Genomics 37:122-4. 1996
  3. ncbi request reprint Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues
    Q Zhang
    Department of Medicine, Division of Cardiovascular Medicine, University of Cambridge, Box 110, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, UK
    J Cell Sci 114:4485-98. 2001
  4. ncbi request reprint Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation
    H Jin
    Division of Medical and Molecular Genetics, GKT Medical School, Guy s Hospital, London, UK
    Eur J Hum Genet 8:87-94. 2000
  5. ncbi request reprint Characterization of DRP2, a novel human dystrophin homologue
    R G Roberts
    Division of Medical and Molecular Genetics, UMDS, London, UK
    Nat Genet 13:223-6. 1996
  6. ncbi request reprint Conservation of components of the dystrophin complex in Drosophila
    M J Greener
    Division of Medical and Molecular Genetics, 8th Floor Guy s Tower, Guy s King s and St Thomas Medical School, London SE1 9RT, UK
    FEBS Lett 482:13-8. 2000
  7. ncbi request reprint Association of dystrophin-related protein 2 (DRP2) with postsynaptic densities in rat brain
    R G Roberts
    Howard Hughes Medical Institute, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Mol Cell Neurosci 16:674-85. 2000
  8. ncbi request reprint Dystrophin, its gene, and the dystrophinopathies
    R G Roberts
    Division of Medical and Molecular Genetics, United Medical and Dental Schools, London, United Kingdom
    Adv Genet 33:177-231. 1995
  9. ncbi request reprint Expression of the dystrophin-related protein 2 (Drp2) transcript in the mouse
    A K Dixon
    Human Genetics Group, The Sanger Centre, Wellcome Genome Campus, Hinxton, CB10 1SA, U K
    J Mol Biol 270:551-8. 1997
  10. ncbi request reprint Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
    T P Kerr
    Department of Paediatric Neurology, Guy s Hospital, London, SE1 9RT, UK
    Hum Genet 109:402-7. 2001

Collaborators

  • C M Shanahan
  • J A Ellis
  • F Muntoni
  • Caroline A Sewry
  • H Jin
  • J M Wheway
  • Q Zhang
  • T P Kerr
  • M J Greener
  • T C Freeman
  • A K Dixon
  • S C Yau
  • V Nihalani
  • M Irving
  • M Splitt
  • D Ellis
  • J N Skepper
  • F Yang
  • L Hegyi
  • S A Robb
  • P L Weissberg
  • J D Davies
  • R J Gardner
  • R Viswesvaraiah
  • S Tuffery
  • D L Vetrie
  • E Kendall
  • M Bobrow
  • E A Campbell
  • T M Tait
  • U Lenk
  • M Claustres
  • J Demaille
  • C Coubes

Detail Information

Publications19

  1. ncbi request reprint Dystrophins in vertebrates and invertebrates
    R G Roberts
    Department of Medical Genetics, Addenbrookes Hospital, Cambridge, UK
    Hum Mol Genet 7:589-95. 1998
    ....
  2. ncbi request reprint Sequence and chromosomal location of a human homologue of LRPR1, an FSH primary response gene
    R G Roberts
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, United Kingdom
    Genomics 37:122-4. 1996
    ..The gene from which the transcript is derived maps to human chromosomal region Xq22 and therefore becomes a potential candidate for human X-linked disorders of gonadal development...
  3. ncbi request reprint Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues
    Q Zhang
    Department of Medicine, Division of Cardiovascular Medicine, University of Cambridge, Box 110, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, UK
    J Cell Sci 114:4485-98. 2001
    ..These data and structural analogies with other proteins suggest that nesprins may function as 'dystrophins of the nucleus' to maintain nuclear organization and structural integrity...
  4. ncbi request reprint Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation
    H Jin
    Division of Medical and Molecular Genetics, GKT Medical School, Guy s Hospital, London, UK
    Eur J Hum Genet 8:87-94. 2000
    ....
  5. ncbi request reprint Characterization of DRP2, a novel human dystrophin homologue
    R G Roberts
    Division of Medical and Molecular Genetics, UMDS, London, UK
    Nat Genet 13:223-6. 1996
    ..The discovery of a novel relative of dystrophin substantially broadens the scope for study of this interesting group of proteins and their associated glycoprotein complexes...
  6. ncbi request reprint Conservation of components of the dystrophin complex in Drosophila
    M J Greener
    Division of Medical and Molecular Genetics, 8th Floor Guy s Tower, Guy s King s and St Thomas Medical School, London SE1 9RT, UK
    FEBS Lett 482:13-8. 2000
    ..The simplicity of this system recommends it as a model for its human counterpart...
  7. ncbi request reprint Association of dystrophin-related protein 2 (DRP2) with postsynaptic densities in rat brain
    R G Roberts
    Howard Hughes Medical Institute, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Mol Cell Neurosci 16:674-85. 2000
    ....
  8. ncbi request reprint Dystrophin, its gene, and the dystrophinopathies
    R G Roberts
    Division of Medical and Molecular Genetics, United Medical and Dental Schools, London, United Kingdom
    Adv Genet 33:177-231. 1995
  9. ncbi request reprint Expression of the dystrophin-related protein 2 (Drp2) transcript in the mouse
    A K Dixon
    Human Genetics Group, The Sanger Centre, Wellcome Genome Campus, Hinxton, CB10 1SA, U K
    J Mol Biol 270:551-8. 1997
    ..These data define the distribution of Drp2 expression in the mouse, and raise the possibility that in the CNS it may be an important component in neuronal dystrophin-associated complexes...
  10. ncbi request reprint Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
    T P Kerr
    Department of Paediatric Neurology, Guy s Hospital, London, SE1 9RT, UK
    Hum Genet 109:402-7. 2001
    ..We discuss this hypothesis with particular reference to a well-characterised Becker muscular dystrophy patient with a frameshift mutation, where expression of a truncated dystrophin rescues the muscular but not mental phenotype...
  11. pmc A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
    J M Wheway
    J Med Genet 40:127-31. 2003
  12. ncbi request reprint The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins
    H Jin
    GKT Medical School, Guy s Hospital, London, SE1 9RT, United Kingdom
    Genomics 61:259-67. 1999
    ..We also describe the expression patterns and chromosomal locations of their genes, which are candidate loci for autosomal recessive neurodegenerative disorders...
  13. ncbi request reprint Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR
    R G Roberts
    Division of Medical and Molecular Genetics, UMDS, Guy s Hospital, London, United Kingdom
    Genomics 13:942-50. 1992
    ..Vectorette PCR using primers derived from cDNA sequence represents an efficient and widely applicable method for establishing gene structure and obtaining intron sequence flanking exons, starting from a genomic clone and a cDNA sequence...
  14. ncbi request reprint Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts
    R G Roberts
    Paediatric Research Unit, Guy s Hospital, London, England
    Hum Mutat 2:293-9. 1993
    ....
  15. ncbi request reprint Exon structure of the human dystrophin gene
    R G Roberts
    Paediatric Research Unit, Division of Medical and Molecular Genetics, London, United Kingdom
    Genomics 16:536-8. 1993
    ....
  16. ncbi request reprint Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations
    R G Roberts
    Paediatric Research Unit, Guy s Hospital, London, England
    Hum Mutat 4:1-11. 1994
    ....
  17. ncbi request reprint Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation
    S Tuffery
    Laboratoire de Biochimie Genetique, INSERM U249 CNRS UPR 9008, Institut de Biologie, Montpellier, France
    Hum Mutat 6:126-35. 1995
    ..The possible effects on the reading frame were analyzed by the study of reverse transcripts amplified from peripheral blood lymphocytes mRNA and by the protein truncation test...
  18. pmc Point mutations in the dystrophin gene
    R G Roberts
    Paediatric Research Unit, United Medical School, Guy s Campus, London, United Kingdom
    Proc Natl Acad Sci U S A 89:2331-5. 1992
    ..The results support a particular functional importance for the C-terminal region of dystrophin. Application of this approach to mutation detection will extend direct carrier and prenatal diagnosis to virtually every affected family...
  19. ncbi request reprint Effect of insulin upon protein degradation in cultured human myocytes
    R G Roberts
    Department of Nephrology, School of Clinical Medical Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Eur J Clin Invest 33:861-7. 2003
    ..The aim of this study was to test the hypothesis that insulin regulates the ATP-dependent ubiquitin proteolytic pathway in human muscle...