Douglas R Higgs

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. 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
  2. pmc Long-range chromosomal interactions regulate the timing of the transition between poised and active gene expression
    Douglas Vernimmen
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    EMBO J 26:2041-51. 2007
  3. pmc The molecular basis of α-thalassemia
    Douglas R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Cold Spring Harb Perspect Med 3:a011718. 2013
  4. ncbi request reprint Thalassaemia
    Douglas R Higgs
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Lancet 379:373-83. 2012
  5. pmc Alpha-thalassaemia
    Cornelis L Harteveld
    1Department of Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333ZC Leiden, The Netherlands
    Orphanet J Rare Dis 5:13. 2010
  6. ncbi request reprint Understanding alpha-globin gene regulation: Aiming to improve the management of thalassemia
    D R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Ann N Y Acad Sci 1054:92-102. 2005
  7. ncbi 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
  8. pmc Generation of bivalent chromatin domains during cell fate decisions
    Marco De Gobbi
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK
    Epigenetics Chromatin 4:9. 2011
  9. ncbi request reprint Long-range regulation of alpha globin gene expression during erythropoiesis
    Douglas R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Curr Opin Hematol 15:176-83. 2008
  10. pmc Genetic complexity in sickle cell disease
    Douglas R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 105:11595-6. 2008

Collaborators

Detail Information

Publications63

  1. 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
    ....
  2. pmc Long-range chromosomal interactions regulate the timing of the transition between poised and active gene expression
    Douglas Vernimmen
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    EMBO J 26:2041-51. 2007
    ..These findings point to a general mechanism by which a gene can be held in a poised state until the appropriate stage for expression, coordinating the level and timing of gene expression during terminal differentiation...
  3. pmc The molecular basis of α-thalassemia
    Douglas R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Cold Spring Harb Perspect Med 3:a011718. 2013
    ....
  4. ncbi request reprint Thalassaemia
    Douglas R Higgs
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Lancet 379:373-83. 2012
    ..We will summarise new approaches to the development of tailored pharmacological agents to alter regulation of globin genes, the first trial of gene therapy for thalassaemia, and future prospects of cell therapy...
  5. pmc Alpha-thalassaemia
    Cornelis L Harteveld
    1Department of Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333ZC Leiden, The Netherlands
    Orphanet J Rare Dis 5:13. 2010
    ..Most pregnancies in which the foetus is known to have the haemoglobin Bart's hydrops foetalis syndrome are terminated due to the increased risk of both maternal and foetal morbidity...
  6. ncbi request reprint Understanding alpha-globin gene regulation: Aiming to improve the management of thalassemia
    D R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Ann N Y Acad Sci 1054:92-102. 2005
    ..Furthermore, they are revealing new pathways in the regulation of globin gene expression that, in turn, may open up new avenues for improving the management of patients with common types of thalassemia...
  7. ncbi 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...
  8. pmc Generation of bivalent chromatin domains during cell fate decisions
    Marco De Gobbi
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK
    Epigenetics Chromatin 4:9. 2011
    ..abstract:..
  9. ncbi request reprint Long-range regulation of alpha globin gene expression during erythropoiesis
    Douglas R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Curr Opin Hematol 15:176-83. 2008
    ..This was demonstrated experimentally and suggested that many mammalian genes may be controlled in a similar manner...
  10. pmc Genetic complexity in sickle cell disease
    Douglas R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 105:11595-6. 2008
  11. 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...
  12. pmc An interspecies analysis reveals a key role for unmethylated CpG dinucleotides in vertebrate Polycomb complex recruitment
    Magnus D Lynch
    MRC Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    EMBO J 31:317-29. 2012
    ..Furthermore, our results suggest that a high density of unmethylated CpG dinucleotides is sufficient for vertebrate Polycomb recruitment. This model is supported by analysis of DNA methyltransferase-deficient embryonic stem cells...
  13. 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
    ....
  14. doi request reprint Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression
    Karen M Lower
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Hum Mutat 34:1140-8. 2013
    ....
  15. pmc Association between active genes occurs at nuclear speckles and is modulated by chromatin environment
    Jill M Brown
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford OX3 9DS, England, UK
    J Cell Biol 182:1083-97. 2008
    ..Thus, association between active genes may result from their location on decondensed chromatin that enables clustering around common nuclear speckles...
  16. 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...
  17. 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...
  18. pmc Polycomb eviction as a new distant enhancer function
    Douglas Vernimmen
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Genes Dev 25:1583-8. 2011
    ..In the absence of the enhancer, the H3K27me3 demethylase (JMJD3) is not recruited to the CpG island. We propose a new role of long-range regulatory elements in removing repressive PcG complexes...
  19. pmc Globin gene activation during haemopoiesis is driven by protein complexes nucleated by GATA-1 and GATA-2
    Eduardo Anguita
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    EMBO J 23:2841-52. 2004
    ....
  20. ncbi request reprint Intragenic enhancers act as alternative promoters
    Monika S Kowalczyk
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, UK
    Mol Cell 45:447-58. 2012
    ..Distinguishing between meRNAs and mRNAs will transform our interpretation of dynamic changes in transcription both at the level of individual genes and of the genome as a whole...
  21. ncbi request reprint A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype
    Michelle J Rugless
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Hum Mol Genet 17:3084-93. 2008
    ..These findings suggest that other than the upstream regulatory elements and promoter proximal elements there are unlikely to be additional positive cis-acting sequences in the alpha-globin cluster...
  22. ncbi request reprint Chromosome looping at the human alpha-globin locus is mediated via the major upstream regulatory element (HS -40)
    Douglas Vernimmen
    Medical Research Council MRC Molecular Haematology Unit, Weatherall Institute for Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS United Kingdom
    Blood 114:4253-60. 2009
    ....
  23. pmc Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition
    Karen M Lower
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford, OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 106:21771-6. 2009
    ..In addition, this work has important implications for our understanding of genome evolution, the interpretation of genome-wide expression, expression-quantitative trait loci, and copy number variant analyses...
  24. 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...
  25. 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...
  26. 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
    ....
  27. pmc Annotation of cis-regulatory elements by identification, subclassification, and functional assessment of multispecies conserved sequences
    Jim R Hughes
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 102:9830-5. 2005
    ..Together, these studies demonstrate an integrated approach by which to identify, subclassify, and predict the potential importance of MCSs...
  28. ncbi request reprint Nprl3 is required for normal development of the cardiovascular system
    Monika S Kowalczyk
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, UK
    Mamm Genome 23:404-15. 2012
    ..NPRL3 is a candidate gene for harbouring mutations in individuals with developmental abnormalities of the cardiovascular system...
  29. doi request reprint Global gene expression analysis of human erythroid progenitors
    Alison T Merryweather-Clarke
    Medical Research Council Molecular Hematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK
    Blood 117:e96-108. 2011
    ..Our Human Erythroid Maturation database is available at https://cellline.molbiol.ox.ac.uk/eryth/index.html. [corrected]...
  30. doi request reprint The chromatin remodeller ATRX: a repeat offender in human disease
    David Clynes
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Trends Biochem Sci 38:461-6. 2013
    ..Here, we provide a mechanistic overview of the role of ATRX in each of these processes, and propose how they may be connected to give rise to seemingly disparate human diseases...
  31. pmc High-resolution analysis of cis-acting regulatory networks at the α-globin locus
    Jim R Hughes
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford OX3 9DS, UK
    Philos Trans R Soc Lond B Biol Sci 368:20120361. 2013
    ..In addition, we identified two interactions with genes located 300 kb (NME4) and 625 kb (FAM173a) from the α-globin cluster...
  32. pmc Coregulated human globin genes are frequently in spatial proximity when active
    Jill M Brown
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, England, UK
    J Cell Biol 172:177-87. 2006
    ....
  33. pmc The role of the polycomb complex in silencing alpha-globin gene expression in nonerythroid cells
    David Garrick
    Medical Research Council MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK
    Blood 112:3889-99. 2008
    ..The alpha- and beta-globin genes thus illustrate important, contrasting mechanisms by which cell-specific hematopoietic genes (and tissue-specific genes in general) may be silenced...
  34. ncbi request reprint Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease
    Cristina Tufarelli
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Nat Genet 34:157-65. 2003
    ..These findings identify a new mechanism underlying human genetic disease...
  35. ncbi request reprint Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype
    Eduardo Anguita
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, United Kingdom
    Blood 100:3450-6. 2002
    ..These results may indicate differences in the regulation of the alpha-globin clusters in mice and humans or that additional cis-acting elements remain to be characterized in one or both clusters...
  36. ncbi request reprint Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment
    Jim R Hughes
    Medical Research Council MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK
    Nat Genet 46:205-12. 2014
    ..In addition, we show how Capture-C will expedite identification of the target genes and functional effects of SNPs that are associated with complex diseases, which most frequently lie in intergenic cis-acting regulatory elements. ..
  37. 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...
  38. ncbi request reprint Long-range regulation of alpha-globin gene expression
    Douglas R Higgs
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Adv Genet 61:143-73. 2008
    ..At present too few loci have been studied to determine whether there are general principles underlying long-range regulation but some common themes are emerging...
  39. pmc Comparative analysis of the alpha-like globin clusters in mouse, rat, and human chromosomes indicates a mechanism underlying breaks in conserved synteny
    Cristina Tufarelli
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Genome Res 14:623-30. 2004
    ..We propose that these repetitive elements have played a role in the fragmentation of the mouse alpha cluster during evolution...
  40. ncbi request reprint De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia
    Vip Viprakasit
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, UK
    Br J Haematol 120:867-75. 2003
    ....
  41. 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...
  42. pmc Causes and consequences of chromatin variation between inbred mice
    Mona Hosseini
    Wellcome Trust Centre for Human Genetics, Oxford, UK
    PLoS Genet 9:e1003570. 2013
    ..Our results show that whilst DNA sequence variation is not the major determinant of variation in open chromatin, where such variants exist they are likely to be causal for complex traits...
  43. doi request reprint Functional significance of mutations in the Snf2 domain of ATRX
    Matthew Mitson
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hum Mol Genet 20:2603-10. 2011
    ..These findings are important for furthering our understanding of how ATP hydrolysis is harnessed as useful work in chromatin remodelling proteins and the wider family of nucleic acid translocating motors...
  44. ncbi request reprint Switching genes on and off in haemopoiesis
    David Garrick
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Biochem Soc Trans 36:613-8. 2008
    ..Taken together, these observations provide a well-characterized model of how gene expression is fully regulated during the transition from stem cells through lineage commitment and terminal differentiation...
  45. pmc Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I
    Christian Babbs
    Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Haematologica 98:1383-7. 2013
    ..Detailed sequence similarity searches indicate that C15ORF41 encodes a novel restriction endonuclease that is a member of the Holliday junction resolvase family of proteins. ..
  46. pmc ATRX dysfunction induces replication defects in primary mouse cells
    David Clynes
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
    PLoS ONE 9:e92915. 2014
    ..Ablation of ATRX alone, although leading to a DNA damage response at telomeres, is not sufficient to trigger the alternative lengthening of telomere pathway in mouse embryonic stem cells. ..
  47. 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
    ....
  48. doi request reprint Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts
    Raffaele Renella
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Blood 117:6928-38. 2011
    ..Cdan1(gt/gt) homozygotes die in utero before the onset of primitive erythropoiesis, suggesting that Cdan1 has other critical roles during embryogenesis...
  49. 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
    ....
  50. ncbi request reprint Hb H hydrops fetalis syndrome associated with the interaction of two common determinants of alpha thalassaemia (--MED/(alpha)TSaudi(alpha))
    Vip Viprakasit
    MRC Molecular Haematology Unit, Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK
    Br J Haematol 117:759-62. 2002
    ..Here we show for the first time that the interaction between two relatively common forms of alpha thalassaemia (--MED/(alpha)TSaudi(alpha)) may be associated with a clinically severe form of alpha thalassaemia, Hb H hydrops fetalis...
  51. ncbi request reprint Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia
    Vip Viprakasit
    Department of Pediatrics and Siriraj Thalassemia Research Program, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
    Blood 103:3296-9. 2004
    ..It remains to be seen if any association between AHSP and clinical severity is present in other population groups with a high frequency of beta thalassemia...
  52. ncbi request reprint Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease
    Vip Viprakasit
    Department of Pediatrics and Siriraj Thalassemia Research Program, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
    Am J Hematol 75:157-63. 2004
    ..Detecting carriers of this mutation using the molecular diagnostic procedures described will provide the means to screen and prevent a potentially severe form of alpha thalassemia in Thailand...
  53. ncbi request reprint Clinical phenotypes and molecular characterization of Hb H-Paksé disease
    Vip Viprakasit
    MRC Molecular Hematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX 3 9DS, UK
    Haematologica 87:117-25. 2002
    ..This prompted us to re-evaluate the molecular basis of a thalassaemia in other Thai patients with non-deletional types of Hb H disease...
  54. doi request reprint A new dawn for stem-cell therapy
    Douglas R Higgs
    Weatherall Institute of Molecular Medicine, Medical Research Council Molecular Haematology Unit, John Radcliffe Hospital, Oxford, United Kingdom
    N Engl J Med 358:964-6. 2008
  55. ncbi request reprint Manipulating the mouse genome to engineer precise functional syntenic replacements with human sequence
    Helen A C Wallace
    Institute for Stem Cell Research, University of Edinburgh, King s Buildings, West Mains Road, Edinburgh EH9 3JQ, United Kingdom
    Cell 128:197-209. 2007
    ..RMGR has general applicability and will overcome limitations inherent in current transgenic technology when studying the expression of human genes and modeling human genetic diseases...
  56. 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...
  57. 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...
  58. 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...
  59. ncbi request reprint Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function
    Camila O Dos Santos
    The Children s Hospital of Philadelphia, Division of Hematology, Philadelphia, Pennsylvania 19104, USA
    Am J Hematol 83:103-8. 2008
    ....
  60. ncbi request reprint Prevalence of erythrocyte haemoglobin H inclusions in unselected patients with clonal myeloid disorders
    David P Steensma
    Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Br J Haematol 139:439-42. 2007
    ..5%) patients with myeloproliferative disorders, but in none of the acute leukaemia patients or controls. We conclude that the emergence of thalassaemic clones may be relatively common in the disordered marrow milieu of MDS...
  61. ncbi request reprint A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element
    Vip Viprakasit
    Blood 107:3811-2. 2006
  62. pmc SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data
    Thomas S Price
    The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Churchill Hospital Headington, Oxford OX3 7BN, UK
    Nucleic Acids Res 33:3455-64. 2005
    ..It is scalable and well-suited to high resolution whole genome array CGH studies that use array probes derived from large insert clones as well as PCR products and oligonucleotides...
  63. ncbi request reprint Elderly survivors with homozygous sickle cell disease
    Graham R Serjeant
    N Engl J Med 356:642-3. 2007