Genomes and Genes
R G Roberts
Affiliation: National Institute for Medical Research
- Dystrophins in vertebrates and invertebratesR G Roberts
Department of Medical Genetics, Addenbrookes Hospital, Cambridge, UK
Hum Mol Genet 7:589-95. 1998....
- Sequence and chromosomal location of a human homologue of LRPR1, an FSH primary response geneR 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...
- Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissuesQ 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...
- Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardationH Jin
Division of Medical and Molecular Genetics, GKT Medical School, Guy s Hospital, London, UK
Eur J Hum Genet 8:87-94. 2000....
- Characterization of DRP2, a novel human dystrophin homologueR 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...
- Conservation of components of the dystrophin complex in DrosophilaM 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...
- Association of dystrophin-related protein 2 (DRP2) with postsynaptic densities in rat brainR G Roberts
Howard Hughes Medical Institute, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
Mol Cell Neurosci 16:674-85. 2000....
- Dystrophin, its gene, and the dystrophinopathiesR G Roberts
Division of Medical and Molecular Genetics, United Medical and Dental Schools, London, United Kingdom
Adv Genet 33:177-231. 1995
- Expression of the dystrophin-related protein 2 (Drp2) transcript in the mouseA 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...
- 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...
- A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndromeJ M Wheway
J Med Genet 40:127-31. 2003
- The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteinsH 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...
- Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCRR 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...
- Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcriptsR G Roberts
Paediatric Research Unit, Guy s Hospital, London, England
Hum Mutat 2:293-9. 1993....
- Exon structure of the human dystrophin geneR G Roberts
Paediatric Research Unit, Division of Medical and Molecular Genetics, London, United Kingdom
Genomics 16:536-8. 1993....
- Searching for the 1 in 2,400,000: a review of dystrophin gene point mutationsR G Roberts
Paediatric Research Unit, Guy s Hospital, London, England
Hum Mutat 4:1-11. 1994....
- Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardationS 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...
- Point mutations in the dystrophin geneR 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...
- Effect of insulin upon protein degradation in cultured human myocytesR 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..CONCLUSIONS: In human muscle we have demonstrated regulation by insulin of the ATP-dependent ubiquitin pathway at the level of ubiquitin conjugation...