Research Topics
Species | Richard GibbonsSummaryAffiliation: University of Oxford Country: UK Publications
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Publications
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...
Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse modelMary 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...
The molecular basis of α-thalassemia: a model for understanding human molecular geneticsDouglas 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...- Mutations in the chromatin-associated protein ATRXRichard 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... - Alpha thalassaemia-mental retardation, X linkedRichard 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... - Histone modifying and chromatin remodelling enzymes in cancer and dysplastic syndromesRichard 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... - Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutationsDavid 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.... - Using genomics to study how chromatin influences gene expressionDouglas 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.... - Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRXAnthony 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... - Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndromeDavid 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.... - ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent mannerMartin 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... - A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domainDavid 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... - Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignanciesDavid 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.... - Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissuesDavid 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... - A regulatory SNP causes a human genetic disease by creating a new transcriptional promoterMarco 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... - Tissue-specific histone modification and transcription factor binding in alpha globin gene expressionMarco De Gobbi
Medical Research Council, Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK
Blood 110:4503-10. 2007.... - Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasiaDavid 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... - Gastrointestinal phenotype of ATR-X syndromeGiuseppe 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... - The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesisNathalie 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... - A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndromeDaniel 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... - Asplenia in ATR-X syndrome: a second reportRonan 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...