Richard J Gibbons

Richard J Gibbons

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Richard J Gibbons

Richard J Gibbons

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How to Tackle Challenging ChIP-Seq, with Long-Range Cross-Linking, Using ATRX as an Example.

Methods Mol Biol 2018 ;1832:105-130

Medical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.

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http://link.springer.com/10.1007/978-1-4939-8663-7_6
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http://dx.doi.org/10.1007/978-1-4939-8663-7_6DOI Listing
April 2019

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

Am J Med Genet A 2019 Mar 13;179(3):344-349. Epub 2019 Jan 13.

South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.61024DOI Listing
March 2019

The macroH2A1.2 histone variant links ATRX loss to alternative telomere lengthening.

Nat Struct Mol Biol 2019 Mar 4;26(3):213-219. Epub 2019 Mar 4.

Laboratory of Receptor Biology and Gene Expression, National Cancer Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41594-019-0192-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537592PMC
March 2019

2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.

Eur J Med Genet 2018 May 4;61(5):273-279. Epub 2018 Jan 4.

Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.002DOI Listing
May 2018

Mutant IDH1 Promotes Glioma Formation In Vivo.

Cell Rep 2018 05;23(5):1553-1564

Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA; Department of Surgery, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA; Department of Oncological Sciences, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.03.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032974PMC
May 2018

Phenotypic and molecular characterization of a serum-free miniature erythroid differentiation system suitable for high-throughput screening and single-cell assays.

Exp Hematol 2018 04 9;60:10-20. Epub 2018 Jan 9.

Medical Research Council (MRC) Molecular Hematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, United Kingdom; Oxford National Institute for Health Research Biomedical Research Centre, Blood Theme, Oxford University Hospital, John Radcliffe Hospital, Headington, Oxford, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.exphem.2018.01.001DOI Listing
April 2018

Selective silencing of α-globin by the histone demethylase inhibitor IOX1: a potentially new pathway for treatment of β-thalassemia.

Haematologica 2017 03 3;102(3):e80-e84. Epub 2016 Nov 3.

Medical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, UK

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http://dx.doi.org/10.3324/haematol.2016.155655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394973PMC
March 2017

Maintaining memory of silencing at imprinted differentially methylated regions.

Cell Mol Life Sci 2016 May 16;73(9):1871-9. Epub 2016 Feb 16.

University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1007/s00018-016-2157-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819931PMC
May 2016

Understanding α-globin gene regulation and implications for the treatment of β-thalassemia.

Ann N Y Acad Sci 2016 03 22;1368(1):16-24. Epub 2015 Dec 22.

Medical Research Council (MRC) Molecular Hematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1111/nyas.12988DOI Listing
March 2016

The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription.

Mol Cell 2015 Nov 22;60(3):351-61. Epub 2015 Oct 22.

Department of Oncology, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK. Electronic address:

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http://dx.doi.org/10.1016/j.molcel.2015.09.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644232PMC
November 2015

Suppression of the alternative lengthening of telomere pathway by the chromatin remodelling factor ATRX.

Nat Commun 2015 Jul 6;6:7538. Epub 2015 Jul 6.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.

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http://www.nature.com/articles/ncomms8538
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http://dx.doi.org/10.1038/ncomms8538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501375PMC
July 2015

α-Globin as a molecular target in the treatment of β-thalassemia.

Blood 2015 Jun 13;125(24):3694-701. Epub 2015 Apr 13.

Medical Research Council Molecular Hematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom; Oxford National Institute for Health Research Biomedical Research Centre, Blood Theme, Oxford University Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1182/blood-2015-03-633594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497969PMC
June 2015

ATRX Plays a Key Role in Maintaining Silencing at Interstitial Heterochromatic Loci and Imprinted Genes.

Cell Rep 2015 Apr 9;11(3):405-18. Epub 2015 Apr 9.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.03.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410944PMC
April 2015

ATRX dysfunction induces replication defects in primary mouse cells.

PLoS One 2014 20;9(3):e92915. Epub 2014 Mar 20.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0092915PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961441PMC
November 2014

JAK2V617F promotes replication fork stalling with disease-restricted impairment of the intra-S checkpoint response.

Proc Natl Acad Sci U S A 2014 Oct 6;111(42):15190-5. Epub 2014 Oct 6.

Cambridge Institute for Medical Research, Medical Research Council/Wellcome Trust Cambridge Stem Cell Institute, and Department of Haematology, University of Cambridge, Cambridge CB2 0XY, United Kingdom; Department of Haematology, Addenbrooke's Hospital, Cambridge CB2 0XY, United Kingdom; and

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http://dx.doi.org/10.1073/pnas.1401873111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210350PMC
October 2014

High-resolution analysis of cis-acting regulatory networks at the α-globin locus.

Philos Trans R Soc Lond B Biol Sci 2013 6;368(1620):20120361. Epub 2013 May 6.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1098/rstb.2012.0361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3682726PMC
December 2013

The chromatin remodeller ATRX: a repeat offender in human disease.

Trends Biochem Sci 2013 Sep 1;38(9):461-6. Epub 2013 Aug 1.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1016/j.tibs.2013.06.011DOI Listing
September 2013

Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression.

Hum Mutat 2013 Aug 18;34(8):1140-8. Epub 2013 Jun 18.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1002/humu.22343DOI Listing
August 2013

ATRX and the replication of structured DNA.

Curr Opin Genet Dev 2013 Jun 28;23(3):289-94. Epub 2013 Feb 28.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1016/j.gde.2013.01.005DOI Listing
June 2013

α-Thalassemia, mental retardation, and myelodysplastic syndrome.

Cold Spring Harb Perspect Med 2012 Oct 1;2(10). Epub 2012 Oct 1.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom.

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http://dx.doi.org/10.1101/cshperspect.a011759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475406PMC
October 2012

Functional significance of mutations in the Snf2 domain of ATRX.

Hum Mol Genet 2011 Jul 19;20(13):2603-10. Epub 2011 Apr 19.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.

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http://dx.doi.org/10.1093/hmg/ddr163DOI Listing
July 2011

Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin.

Nat Struct Mol Biol 2011 Jun 12;18(7):777-82. Epub 2011 Jun 12.

Medical Research Council Laboratory of Molecular Biology, Cambridge, UK.

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http://dx.doi.org/10.1038/nsmb.2070DOI Listing
June 2011

The molecular basis of α-thalassemia: a model for understanding human molecular genetics.

Hematol Oncol Clin North Am 2010 Dec 29;24(6):1033-54. Epub 2010 Sep 29.

John Radcliffe Hospital, MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Headington, Oxford, UK.

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http://dx.doi.org/10.1016/j.hoc.2010.08.005DOI Listing
December 2010

ATRX: taming tandem repeats.

Cell Cycle 2010 Dec 1;9(23):4605-6. Epub 2010 Dec 1.

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http://dx.doi.org/10.4161/cc.9.23.14164DOI Listing
December 2010

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition.

Proc Natl Acad Sci U S A 2009 Dec 3;106(51):21771-6. Epub 2009 Dec 3.

Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford, OX3 9DS, United Kingdom.

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http://dx.doi.org/10.1073/pnas.0909331106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799829PMC
December 2009

Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome.

Hum Mol Genet 2009 Mar 16;18(5):966-77. Epub 2008 Dec 16.

Regenerative Medicine, Ottawa Health Research Institute, Ottawa, Ontario, Canada K1H 8L6.

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http://dx.doi.org/10.1093/hmg/ddn424DOI Listing
March 2009

Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53.

J Neurosci 2008 Nov;28(47):12570-80

Department of Paediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada N6C 2V5.

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http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.4048-08.2
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http://dx.doi.org/10.1523/JNEUROSCI.4048-08.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6671724PMC
November 2008

Mutations in the chromatin-associated protein ATRX.

Hum Mutat 2008 Jun;29(6):796-802

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/humu.20734DOI Listing
June 2008

Tissue-specific histone modification and transcription factor binding in alpha globin gene expression.

Blood 2007 Dec 22;110(13):4503-10. Epub 2007 Aug 22.

Medical Research Council, Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK.

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http://dx.doi.org/10.1182/blood-2007-06-097964DOI Listing
December 2007

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.

Proc Natl Acad Sci U S A 2007 Jul 3;104(29):11939-44. Epub 2007 Jul 3.

Medical Research Council Molecular Haematology Unit, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1073/pnas.0704057104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1924575PMC
July 2007

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.

Am J Hum Genet 2007 Jun 25;80(6):1138-49. Epub 2007 Apr 25.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1086/518369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867101PMC
June 2007

Gastrointestinal phenotype of ATR-X syndrome.

Am J Med Genet A 2006 Jun;140(11):1172-6

Scientific Institute (IRCCS) Policlinico San Matteo, University of Genoa, Pavia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31248DOI Listing
June 2006

A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.

Eur J Haematol 2006 May 15;76(5):432-5, 453. Epub 2006 Feb 15.

Division of Hematology/Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA.

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http://dx.doi.org/10.1111/j.1600-0609.2006.00628.xDOI Listing
May 2006

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.

Science 2006 May;312(5777):1215-7

Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, UK.

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http://dx.doi.org/10.1126/science.1126431DOI Listing
May 2006

Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues.

PLoS Genet 2006 Apr 21;2(4):e58. Epub 2006 Apr 21.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.0020058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1440874PMC
April 2006

Asplenia in ATR-X syndrome: a second report.

Am J Med Genet A 2005 Nov;139(1):37-9

Regional Hospital, Limerick, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.30990DOI Listing
November 2005

Histone modifying and chromatin remodelling enzymes in cancer and dysplastic syndromes.

Hum Mol Genet 2005 Apr;14 Spec No 1:R85-92

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1093/hmg/ddi106DOI Listing
April 2005

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.

Blood 2005 Jan 9;105(2):443-52. Epub 2004 Sep 9.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford, United Kingdom.

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http://dx.doi.org/10.1182/blood-2004-07-2792DOI Listing
January 2005

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia.

Eur J Haematol 2005 Jan;74(1):47-53

Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1111/j.1600-0609.2004.00363.xDOI Listing
January 2005

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.

Blood 2004 Mar 30;103(6):2019-26. Epub 2003 Oct 30.

MRC Molecula Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS, United Kingdom.

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http://dx.doi.org/10.1182/blood-2003-09-3360DOI Listing
March 2004

Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome.

Blood 2004 Feb 23;103(4):1518-20. Epub 2003 Oct 23.

Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington Oxford OX3 9DU, United Kingdom.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2003-09-32
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http://dx.doi.org/10.1182/blood-2003-09-3222DOI Listing
February 2004

A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain.

Gene 2004 Feb;326:23-34

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, UK.

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http://dx.doi.org/10.1016/j.gene.2003.10.026DOI Listing
February 2004