Richard Gibbons

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi request reprint Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS)
    Richard J Gibbons
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS UK
    Nat Genet 34:446-9. 2003
  2. pmc Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model
    Mary R Muers
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Am J Hum Genet 80:1138-49. 2007
  3. doi request reprint The molecular basis of α-thalassemia: a model for understanding human molecular genetics
    Douglas R Higgs
    John Radcliffe Hospital, MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Headington, Oxford, UK
    Hematol Oncol Clin North Am 24:1033-54. 2010
  4. doi request reprint Mutations in the chromatin-associated protein ATRX
    Richard J Gibbons
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
    Hum Mutat 29:796-802. 2008
  5. pmc Alpha thalassaemia-mental retardation, X linked
    Richard Gibbons
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, OX3 9DS Oxford, UK
    Orphanet J Rare Dis 1:15. 2006
  6. ncbi request reprint Histone modifying and chromatin remodelling enzymes in cancer and dysplastic syndromes
    Richard J Gibbons
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Hum Mol Genet 14:R85-92. 2005
  7. ncbi request reprint Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations
    David P Steensma
    MRC Molecula Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS, United Kingdom
    Blood 103:2019-26. 2004
  8. ncbi request reprint Using genomics to study how chromatin influences gene expression
    Douglas R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Annu Rev Genomics Hum Genet 8:299-325. 2007
  9. pmc Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX
    Anthony Argentaro
    Medical Research Council Molecular Haematology Unit, John Radcliffe Hospital, Oxford, United Kingdom
    Proc Natl Acad Sci U S A 104:11939-44. 2007
  10. ncbi request reprint Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome
    David P Steensma
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington Oxford OX3 9DU, United Kingdom
    Blood 103:1518-20. 2004

Collaborators

  • Vip Viprakasit
  • Joanne Traeger-Synodinos
  • Takahito Wada
  • David P Steensma
  • Douglas R Higgs
  • A P Morris
  • J Boultwood
  • Jiannis Ragoussis
  • Ian Krantz
  • P M Nolan
  • Daniel B Costa
  • W Reardon
  • A Tefferi
  • Ruben A Mesa
  • David Garrick
  • Marco De Gobbi
  • William G Wood
  • Martin J Law
  • Ian Dunham
  • Daniela Rhodes
  • Jim R Hughes
  • Helena Ayyub
  • Jacqueline A Sharpe
  • Mary R Muers
  • Anthony Argentaro
  • Giuseppe Martucciello
  • Chris Fisher
  • Lorraine Dobbie
  • Ronan T Leahy
  • Nathalie G Berube
  • Andrew J H Smith
  • Hsiao P J Voon
  • Steven Jones
  • Marco Marra
  • Joe Cross
  • Karen M Lower
  • Stephen Taylor
  • Guilherme M Santos
  • Aaron Abbott
  • Matthew Mitson
  • Steven P Wilder
  • Eduardo Anguita
  • Monika S Kowalczyk
  • David Neuhaus
  • Jacqueline A Sloane-Stanley
  • Christoph M Koch
  • Jim Hughes
  • Ji chun Yang
  • Terry Hacker
  • Lynda Chapman
  • Jacqueline Sloane-Stanley
  • Ruth Arkell
  • Jackie A Sharpe
  • Veronica J Buckle
  • Laura Lombardi
  • Douglas Vernimmen
  • Edward M Rubin
  • Yuko Yoshinaga
  • Don Bowden
  • Pieter de Jong
  • Jan Fang Cheng
  • Salvatore Savasta
  • David J Picketts
  • Marie Mangelsdorf
  • Magdalena Jagla
  • Roy K Philip
  • Jackie Vanderluit
  • Ruth S Slack
  • Mohnish Suri
  • Vassiliki Samara
  • Tarra L McDowell

Detail Information

Publications21

  1. ncbi request reprint Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS)
    Richard J Gibbons
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS UK
    Nat Genet 34:446-9. 2003
    ..These findings cast new light on this pleiotropic cofactor, which appears to be an essential component rather than a mere facilitator of globin gene expression...
  2. pmc Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model
    Mary R Muers
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Am J Hum Genet 80:1138-49. 2007
    ..This illustrates an important mechanism by which skewed XCI may occur in carriers of XLMR and provides insight into the normal role of ATRX in regulating cell fate...
  3. doi request reprint The molecular basis of α-thalassemia: a model for understanding human molecular genetics
    Douglas R Higgs
    John Radcliffe Hospital, MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Headington, Oxford, UK
    Hematol Oncol Clin North Am 24:1033-54. 2010
    ..In addition, the principles by which α-globin expression may be perturbed by natural mutations that cause α-thalassemia are reviewed...
  4. doi request reprint Mutations in the chromatin-associated protein ATRX
    Richard J Gibbons
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
    Hum Mutat 29:796-802. 2008
    ..Missense mutations are shown to cluster in the two main functional domains. The truncating mutations appear to be "rescued" to some degree and so it appears likely that most if not all constitutional ATRX mutations are hypomorphs...
  5. pmc Alpha thalassaemia-mental retardation, X linked
    Richard Gibbons
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, OX3 9DS Oxford, UK
    Orphanet J Rare Dis 1:15. 2006
    ..Management is multidisciplinary: young children must be carefully monitored for gastro-oesophageal reflux as it may cause death. A number of individuals with ATR-X are fit and well in their 30s and 40s...
  6. ncbi request reprint Histone modifying and chromatin remodelling enzymes in cancer and dysplastic syndromes
    Richard J Gibbons
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Hum Mol Genet 14:R85-92. 2005
    ..In exciting developments, it has been shown that inhibition of these factors leads to the reversal of tumour suppressor gene silencing and the inhibition of cancer cell growth...
  7. ncbi request reprint Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations
    David P Steensma
    MRC Molecula Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS, United Kingdom
    Blood 103:2019-26. 2004
    ....
  8. ncbi request reprint Using genomics to study how chromatin influences gene expression
    Douglas R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Annu Rev Genomics Hum Genet 8:299-325. 2007
    ....
  9. pmc Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX
    Anthony Argentaro
    Medical Research Council Molecular Haematology Unit, John Radcliffe Hospital, Oxford, United Kingdom
    Proc Natl Acad Sci U S A 104:11939-44. 2007
    ..The effects of individual point mutations on the folding state and stability of the ADD domain correlate well with the levels of mutant ATRX protein in patients, providing insights into the molecular pathophysiology of ATR-X syndrome...
  10. ncbi request reprint Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome
    David P Steensma
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington Oxford OX3 9DU, United Kingdom
    Blood 103:1518-20. 2004
    ....
  11. doi request reprint ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner
    Martin J Law
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Cell 143:367-78. 2010
    ..We show that ATRX binds G-quadruplex structures in vitro, suggesting a mechanism by which ATRX may play a role in various nuclear processes and how this is perturbed when ATRX is mutated...
  12. ncbi request reprint A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain
    David Garrick
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, UK
    Gene 326:23-34. 2004
    ..The high degree of conservation of ATRXt and the tight regulation of its expression relative to the full length protein suggest that this truncated isoform fulfills an important biological function...
  13. ncbi request reprint Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies
    David P Steensma
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford, United Kingdom
    Blood 105:443-52. 2005
    ....
  14. pmc Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues
    David Garrick
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
    PLoS Genet 2:e58. 2006
    ..Together these findings demonstrate an unexpected, specific, and essential role for Atrx in the development of the murine trophoblast and present an example of escape from imprinted X chromosome inactivation...
  15. ncbi request reprint A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter
    Marco De Gobbi
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, UK
    Science 312:1215-7. 2006
    ..Thus, our work illustrates a strategy for distinguishing between neutral and functionally important rSNPs, and it also identifies a pathogenetic mechanism that could potentially underlie other genetic diseases...
  16. ncbi request reprint Tissue-specific histone modification and transcription factor binding in alpha globin gene expression
    Marco De Gobbi
    Medical Research Council, Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK
    Blood 110:4503-10. 2007
    ....
  17. ncbi request reprint Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia
    David P Steensma
    Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Eur J Haematol 74:47-53. 2005
    ..In addition, it is unclear whether patients with MDS-associated acquired alpha thalassaemia (ATMDS), a special subgroup with a very high incidence of point mutations in the ATRX gene, have an especially high incidence of RUNX1 mutations...
  18. ncbi request reprint Gastrointestinal phenotype of ATR-X syndrome
    Giuseppe Martucciello
    Scientific Institute IRCCS Policlinico San Matteo, University of Genoa, Pavia, Italy
    Am J Med Genet A 140:1172-6. 2006
    ..Furthermore, ultra-short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children...
  19. pmc The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis
    Nathalie G Berube
    Molecular Medicine Programs, Ottawa Health Research Institute, Ottawa, Ontario, Canada
    J Clin Invest 115:258-67. 2005
    ..Taken together, our results indicate that ATRX is a critical mediator of cell survival during early neuronal differentiation. Thus, increased neuronal loss may contribute to the severe mental retardation observed in human patients...
  20. ncbi request reprint A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome
    Daniel B Costa
    Division of Hematology Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA
    Eur J Haematol 76:432-5, 453. 2006
    ..R2407X). This case provides further evidence for a link between ATRX mutations and ATMDS, and suggests a possible role for the conserved Q-box element in ATRX function...
  21. ncbi request reprint Asplenia in ATR-X syndrome: a second report
    Ronan T Leahy
    Regional Hospital, Limerick, Ireland
    Am J Med Genet A 139:37-9. 2005
    ..We now report on a second instance of a patient presenting with mental retardation and asplenia who has been shown to have a mutation at the ATR-X locus...