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Roland Roberts

Research Profile

Chemicals & Drugs

Concepts & Ideas

Disorders

Muscular Dystrophies

Genes & Molecular Sequences

Amino Acid Sequences

Procedures

Physiology

Point Mutation

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Mouse

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Publications

TOP 3
Amy R Frost; Sabrina V Böhm; Raj N Sewduth; Dragana Josifova; Caroline Mackie Ogilvie; Louise Izatt; Roland Roberts
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.
Fiona Vaz; Helmut Hanenberg; Beatrice Schuster; Karen Barker; Constanze Wiek; Verena Erven; Kornelia Neveling; Daniela Endt; Ian Kesterton; Flavia Autore; Franca Fraternali; Marcel Freund; Linda Hartmann; David Grimwade; Roland Roberts; Heiner Schaal; Shehla Mohammed; Nazneen Rahman; Detlev Schindler; Christopher G Mathew
Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
Natalie Prescott; Katherine M Dominy; Michiaki Kubo; Cathryn M Lewis; Sheila A Fisher; Richard Redon; Ni Huang; Barbara E Stranger; Katarzyna Blaszczyk; Barry Hudspith; Gareth Parkes; Naoya Hosono; Keiko Yamazaki; Clive M Onnie; Alastair Forbes; Emmanouil T Dermitzakis; Yusuke Nakamura; John C Mansfield; Jeremy Sanderson; Matthew E Hurles; Roland Roberts; Christopher G Mathew
Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.

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All Publications

2010: Amy R Frost; Sabrina V Böhm; Raj N Sewduth; Dragana Josifova; Caroline Mackie Ogilvie; Louise Izatt; Roland Roberts
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.
European journal of human genetics : EJHG 2010;18(7):852-5.
2010: Fiona Vaz; Helmut Hanenberg; Beatrice Schuster; Karen Barker; Constanze Wiek; Verena Erven; Kornelia Neveling; Daniela Endt; Ian Kesterton; Flavia Autore; Franca Fraternali; Marcel Freund; Linda Hartmann; David Grimwade; Roland Roberts; Heiner Schaal; Shehla Mohammed; Nazneen Rahman; Detlev Schindler; Christopher G Mathew
Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
Nature genetics 2010;42(5):406-9.
2010: Natalie Prescott; Katherine M Dominy; Michiaki Kubo; Cathryn M Lewis; Sheila A Fisher; Richard Redon; Ni Huang; Barbara E Stranger; Katarzyna Blaszczyk; Barry Hudspith; Gareth Parkes; Naoya Hosono; Keiko Yamazaki; Clive M Onnie; Alastair Forbes; Emmanouil T Dermitzakis; Yusuke Nakamura; John C Mansfield; Jeremy Sanderson; Matthew E Hurles; Roland Roberts; Christopher G Mathew
Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.
Human molecular genetics 2010;19(9):1828-39.
2010: Matthew A Wheeler; Alice Warley; Roland Roberts; Elisabeth Ehler; Juliet A Ellis
Identification of an emerin-beta-catenin complex in the heart important for intercalated disc architecture and beta-catenin localisation.
Cellular and molecular life sciences : CMLS 2010;67(5):781-96.
2010: Manuela Volta; Stefano Calza; Anne M Roberts; Roland Roberts
Characterisation of the interaction between syndecan-2, neurofibromin and CASK: dependence of interaction on syndecan dimerization.
Biochemical and biophysical research communications 2010;391(2):1216-21.
2009: Harinder K Gill; Sian R Parsons; Cosma Spalluto; Angela F Davies; Victoria J Knorz; Clare E G Burlinson; Bee Ling Ng; Nigel P Carter; Caroline Mackie Ogilvie; David I Wilson; Roland Roberts
Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.
European journal of human genetics : EJHG 2009;17(11):1423-31.
2009: Sabrina V Böhm; Panayiotis Constantinou; Sipin Tan; Hong Jin; Roland Roberts
Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat.
BMC biology 2009;7():85.
2009: Caroline Mackie Ogilvie; Joo Wook Ahn; Kathy Mann; Roland Roberts; Frances Flinter
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.
Molecular cytogenetics 2009;2():9.
2008: Jennifer G Simpson; Roland Roberts
Patterns of evolutionary conservation in the nesprin genes highlight probable functionally important protein domains and isoforms.
Biochemical Society transactions 2008;36(Pt 6):1359-67.
2008: Richard Bagnall; Roland Roberts; Muddassar M Mirza; Toshihiko Torigoe; Natalie Prescott; Christopher G Mathew
Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.
European journal of human genetics : EJHG 2008;16(5):619-25.
2008: Sabrina Böhm; Hong Jin; Simon M Hughes; Roland Roberts; Hinits Yaniv
Dystrobrevin and dystrophin family gene expression in zebrafish.
Gene expression patterns : GEP 2008;8(2):71-8.
2007: Qiuping Zhang; Cornelia Bethmann; Nathalie F Worth; John D Davies; Christina Wasner; Anja Feuer; Cassandra D Ragnauth; Qijian Yi; Jason A Mellad; Derek T Warren; Matthew A Wheeler; Juliet A Ellis; Jeremy N Skepper; Matthias Vorgerd; Beate Schlotter-Weigel; Peter L Weissberg; Roland Roberts; Manfred Wehnert; Catherine M Shanahan
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
Human molecular genetics 2007;16(23):2816-33.
2007: Sipin Tan; David A Johnston; Roland Roberts
Schistosome dystrophin and dystrobrevin proteins contain large insertions.
Biochemical and biophysical research communications 2007;362(3):700-6.
2007: Kathy King; Richard Bagnall; Sheila A Fisher; Faisal Sheikh; Andrew P Cuthbert; Sipin Tan; Nicholas I Mundy; Philip Rosenstiel; Stefan Schreiber; Christopher G Mathew; Roland Roberts
Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.
Genomics 2007;90(4):493-501.
2007: Miles Parkes; Jeffrey C Barrett; Natalie Prescott; Mark Tremelling; Carl A Anderson; Sheila A Fisher; Roland Roberts; Elaine R Nimmo; Fraser R Cummings; Dianne Soars; Hazel Drummond; Charlie W Lees; Saud A Khawaja; Richard Bagnall; Denis A Burke; Catherine E Todhunter; Tariq Ahmad; Clive M Onnie; Wendy McArdle; David Strachan; Graeme Bethel; Claire Bryan; Cathryn M Lewis; Panos Deloukas; Alastair Forbes; Jeremy Sanderson; Derek P Jewell; Jack Satsangi; John C Mansfield; Lon Cardon; Christopher G Mathew
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
Nature genetics 2007;39(7):830-2.
2007: Andrew J Wood; Roland Roberts; David Monk; Gudrun E Moore; Reiner Schulz; Rebecca J Oakey
A screen for retrotransposed imprinted genes reveals an association between X chromosome homology and maternal germ-line methylation.
PLoS genetics 2007;3(2):e20.
2007: Philip Rosenstiel; Klaus Huse; Andre Franke; Jochen Hampe; Kathrin Reichwald; Cornelia Platzer; Roland Roberts; Christopher G Mathew; Matthias Platzer; Stefan Schreiber
Functional characterization of two novel 5' untranslated exons reveals a complex regulation of NOD2 protein expression.
BMC genomics 2007;8():472.
2007: Hong Jin; Sipin Tan; Jane Hermanowski; Sabrina Böhm; Sabrina Pacheco; Joanna M McCauley; Marc J Greener; Hinits Yaniv; Simon M Hughes; Paul T Sharpe; Roland Roberts
The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms.
BMC genomics 2007;8():19.
2006: Clive M Onnie; Sheila A Fisher; Kathy King; Muddassar M Mirza; Roland Roberts; Alastair Forbes; Jeremy Sanderson; Cathryn M Lewis; Christopher G Mathew
Sequence variation, linkage disequilibrium and association with Crohn's disease on chromosome 5q31.
Genes and immunity 2006;7(5):359-65.
2006: Kathy King; Mohammed F Sheikh; Andrew P Cuthbert; Sheila A Fisher; Clive M Onnie; Muddassar M Mirza; Reenal Pattni; Jeremy Sanderson; Alastair Forbes; John Mansfield; Cathryn M Lewis; Roland Roberts; Christopher G Mathew
Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.
Human mutation 2006;27(1):44-54.
2005: Damien Arnoult; Neggy Rismanchi; Alain Grodet; Roland Roberts; Daniel P Seeburg; Jérôme Estaquier; Morgan Sheng; Craig Blackstone
Bax/Bak-dependent release of DDP/TIMM8a promotes Drp1-mediated mitochondrial fission and mitoptosis during programmed cell death.
Current biology : CB 2005;15(23):2112-8.
2005: Qiuping Zhang; Cassandra D Ragnauth; Jeremy N Skepper; Nathalie F Worth; Derek T Warren; Roland Roberts; Peter L Weissberg; Juliet A Ellis; Catherine M Shanahan
Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle.
Journal of cell science 2005;118(Pt 4):673-87.
2004: Hong Jin; Joanna Selfe; Caroline Whitehouse; Joanna R Morris; Ellen Solomon; Roland Roberts
Structural evolution of the BRCA1 genomic region in primates.
Genomics 2004;84(6):1071-82.
2004: Rowena F Stern; Roland Roberts; Kathy Mann; Shu C Yau; Jonathan Berg; Caroline Mackie Ogilvie
Multiplex ligation-dependent probe amplification using a completely synthetic probe set.
BioTechniques 2004;37(3):399-405.
2003: Kristin Becker; Stephanie Robb; Zandra Hatton; Shu C Yau; Stephen Abbs; Roland Roberts
Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein.
Human mutation 2003;21(6):651.
2003: Craig Blackstone; Roland Roberts; Daniel P Seeburg; Morgan Sheng
Interaction of the deafness-dystonia protein DDP/TIMM8a with the signal transduction adaptor molecule STAM1.
Biochemical and biophysical research communications 2003;305(2):345-52.
2003: J M Wheway; S C Yau; V Nihalani; D Ellis; M Irving; Miranda Splitt; Roland Roberts
A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome.
Journal of medical genetics 2003;40(2):127-31.
2003: Joanna M Wheway; Roland Roberts
The dystrophin lymphocyte promoter revisited: 4.5-megabase intron, or artifact?
Neuromuscular disorders : NMD 2003;13(1):17-20.
2002: Qiuping Zhang; Cassandra D Ragnauth; Marc J Greener; Catherine M Shanahan; Roland Roberts
The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300.
Genomics 2002;80(5):473-81.
2002: Marc J Greener; Caroline A Sewry; Francesco Muntoni; Roland Roberts
The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss.
European journal of human genetics : EJHG 2002;10(7):413-20.
2001: Qiuping Zhang; Jeremy N Skepper; F Yang; John D Davies; László Hegyi; Roland Roberts; Peter L Weissberg; Juliet A Ellis; Catherine M Shanahan
Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues.
Journal of cell science 2001;114(Pt 24):4485-98.
2001: Tim P Kerr; Caroline A Sewry; Stephanie Robb; Roland Roberts
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
Human genetics 2001;109(4):402-7.
2001: Yi-Ping Hsueh; A M Roberts; M Volta; Morgan Sheng; Roland Roberts
Bipartite interaction between neurofibromatosis type I protein (neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2001;21(11):3764-70.
2001: E Dodds; Matthew G Dunckley; Roland Roberts; Francesco Muntoni; Christopher Shaw
Overexpressed human survival motor neurone isoforms, SMNDeltaexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution.
FEBS letters 2001;495(1-2):31-8.
2001: Roland Roberts
Dystrophins and dystrobrevins.
Genome biology 2001;2(4):REVIEWS3006.
2000: Roland Roberts; Morgan Sheng
Association of dystrophin-related protein 2 (DRP2) with postsynaptic densities in rat brain.
Molecular and cellular neurosciences 2000;16(5):674-85.
2000: Marc J Greener; Roland Roberts
Conservation of components of the dystrophin complex in Drosophila.
FEBS letters 2000;482(1-2):13-8.
2000: H Jin; R J Gardner; R Viswesvaraiah; Francesco Muntoni; Roland Roberts
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
European journal of human genetics : EJHG 2000;8(2):87-94.
1999: H Jin; E Kendall; T C Freeman; Roland Roberts; David Vetrie
The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins.
Genomics 1999;61(3):259-67.
1998: Roland Roberts; M Bobrow
Dystrophins in vertebrates and invertebrates.
Human molecular genetics 1998;7(4):589-95.
1997: Carlo Nobile; J Marchi; Vincenzo Nigro; Roland Roberts; Gian Antonio Danieli
Exon-intron organization of the human dystrophin gene.
Genomics 1997;45(2):421-4.
1997: A K Dixon; T M Tait; Elizabeth A Campbell; M Bobrow; Roland Roberts; T C Freeman
Expression of the dystrophin-related protein 2 (Drp2) transcript in the mouse.
Journal of molecular biology 1997;270(4):551-8.
1997: Neil Whittock; Roland Roberts; Christopher G Mathew; Stephen Abbs
Dystrophin point mutation screening using a multiplexed protein truncation test.
Genetic testing 1997;1(2):115-23.
1996: Roland Roberts; E Kendall; David Vetrie; Martin Bobrow
Sequence and chromosomal location of a human homologue of LRPR1, an FSH primary response gene.
Genomics 1996;37(1):122-4.
1996: Roland Roberts; Tom C Freeman; E Kendall; David Vetrie; A K Dixon; C Shaw-Smith; Q Bone; Martin Bobrow
Characterization of DRP2, a novel human dystrophin homologue.
Nature genetics 1996;13(2):223-6.
1995: R J Gardner; Martin Bobrow; Roland Roberts
The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test.
American journal of human genetics 1995;57(2):311-20.
1995: C Nobile; F Galvagni; J Marchi; Roland Roberts; libero vitiello
Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3' region.
Genomics 1995;28(1):97-100.
1995: Sylvie Tuffery; U Lenk; Roland Roberts; C Coubes; Jacques Demaille; Mireille Claustres
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
Human mutation 1995;6(2):126-35.
1995: Roland Roberts
Dystrophin, its gene, and the dystrophinopathies.
Advances in genetics 1995;33():177-231.
1994: Francesco Muntoni; P Gobbi; C Sewry; T Sherratt; J Taylor; S K Sandhu; Stephen Abbs; Roland Roberts; Shirley V Hodgson; Martin Bobrow
Deletions in the 5' region of dystrophin and resulting phenotypes.
Journal of medical genetics 1994;31(11):843-7.
1994: F A Saad; B Halliger; C R Müller; Roland Roberts; Gian Antonio Danieli
Single base substitutions are detected by double strand conformation analysis.
Nucleic acids research 1994;22(20):4352-3.
1994: Roland Roberts; R J Gardner; Martin Bobrow
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
Human mutation 1994;4(1):1-11.
1993: C Holding; D Bentley; Roland Roberts; Martin Bobrow; Christopher G Mathew
Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy.
Journal of medical genetics 1993;30(11):903-9.
1993: P A Roest; Roland Roberts; S Sugino; Gert-Jan B van Ommen; Johan T den Dunnen
Protein truncation test (PTT) for rapid detection of translation-terminating mutations.
Human molecular genetics 1993;2(10):1719-21.
1993: P A Roest; Roland Roberts; A C van der Tuijn; J C Heikoop; Gert-Jan B van Ommen; Johan T den Dunnen
Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations.
Neuromuscular disorders : NMD 1993;3(5-6):391-4.
1993: Roland Roberts; A J Coffey; Martin Bobrow; David R Bentley
Exon structure of the human dystrophin gene.
Genomics 1993;16(2):536-8.
1993: S C Yau; Roland Roberts; Martin Bobrow; Christopher G Mathew
Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy.
Lancet 1993;341(8840):273-5.
1993: Robert Alan Gibson; Manuel Buchwald; Roland Roberts; Christopher G Mathew
Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR.
Human molecular genetics 1993;2(1):35-8.
1993: Roland Roberts; David R Bentley; Martin Bobrow
Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts.
Human mutation 1993;2(4):293-9.
1993: Roland Roberts; M R Passos-Bueno; Martin Bobrow; M Vainzof; M Zatz
Point mutation in a Becker muscular dystrophy patient.
Human molecular genetics 1993;2(1):75-7.
1992: I A Glass; L V Nicholson; E Watkiss; M A Johnson; Roland Roberts; Stephen Abbs; S Brittain-Jones; H G Boddie
Investigation of a female manifesting Becker muscular dystrophy.
Journal of medical genetics 1992;29(8):578-82.
1992: Roland Roberts; A J Coffey; Martin Bobrow; David R Bentley
Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR.
Genomics 1992;13(4):942-50.
1992: Roland Roberts; Martin Bobrow; David R Bentley
Point mutations in the dystrophin gene.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(6):2331-5.
1992: A J Coffey; Roland Roberts; Eric Green; C G Cole; R Butler; R Anand; Francesco Giannelli; David R Bentley
Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach.
Genomics 1992;12(3):474-84.
1991: S C Yau; Roland Roberts; David R Bentley; Christopher G Mathew; Martin Bobrow
A MseI polymorphism in exon 48 of the dystrophin gene.
Nucleic acids research 1991;19(20):5803.
1991: Roland Roberts; T F Barby; E Manners; Martin Bobrow; David R Bentley
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.
American journal of human genetics 1991;49(2):298-310.
1991: Roland Roberts
Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA.
Lancet 1991;337(8739):504.
1990: Roland Roberts; David R Bentley; T F Barby; E Manners; Martin Bobrow
Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA.
Lancet 1990;336(8730):1523-6.
1990: Stephen Abbs; Roland Roberts; Christopher G Mathew; David R Bentley; Martin Bobrow
Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.
Genomics 1990;7(4):602-6.
1990: Roland Roberts; Martin Bobrow; David R Bentley
A MaeIII polymorphism near the dystrophin gene promoter by restriction of amplified DNA.
Nucleic acids research 1990;18(5):1315.
1989: Roland Roberts; A J Montandon; Martin Bobrow; David R Bentley
Detection of novel genetic markers by mismatch analysis.
Nucleic acids research 1989;17(15):5961-71.
1989: Roland Roberts; C G Cole; K A Hart; Martin Bobrow; David R Bentley
Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy.
Nucleic acids research 1989;17(2):811.