T J Vulliamy

Summary

Affiliation: Queen Mary
Country: UK

Publications

  1. pmc Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations
    Tom J Vulliamy
    Centre for Paediatrics, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
    PLoS ONE 6:e24383. 2011
  2. pmc Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2
    T Vulliamy
    Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
    Clin Genet 81:76-81. 2012
  3. pmc Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
    Tom Vulliamy
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London E12AT, United Kingdom
    Proc Natl Acad Sci U S A 105:8073-8. 2008
  4. ncbi request reprint Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex
    T J Vulliamy
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, UK
    Biochimie 90:122-30. 2008
  5. ncbi request reprint Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier
    T J Vulliamy
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Blood 94:1254-60. 1999
  6. ncbi request reprint Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
    S W Knight
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Hum Genet 108:299-303. 2001
  7. ncbi request reprint Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
    T J Vulliamy
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, 4th Floor Commonwealth Building, Du Cane Road, London, W12 ONN, United Kingdom
    Blood Cells Mol Dis 27:353-7. 2001
  8. pmc X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
    S W Knight
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom
    Am J Hum Genet 65:50-8. 1999
  9. ncbi request reprint Molecular heterogeneity underlying the G6PD Mediterranean phenotype
    C M Corcoran
    Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Hum Genet 88:688-90. 1992
  10. ncbi request reprint Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
    S W Knight
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, U K
    Br J Haematol 107:335-9. 1999

Collaborators

Detail Information

Publications13

  1. pmc Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations
    Tom J Vulliamy
    Centre for Paediatrics, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
    PLoS ONE 6:e24383. 2011
    ....
  2. pmc Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2
    T Vulliamy
    Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
    Clin Genet 81:76-81. 2012
    ..In the absence of any direct functional assay, the data indicates that the telomere length measurement can inform us as to which variants in TINF2 are pathogenic and which may be non-pathogenic...
  3. pmc Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
    Tom Vulliamy
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London E12AT, United Kingdom
    Proc Natl Acad Sci U S A 105:8073-8. 2008
    ....
  4. ncbi request reprint Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex
    T J Vulliamy
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, UK
    Biochimie 90:122-30. 2008
    ..This small protein is also associated with the maturation of ribosomal RNA and the telomerase complex...
  5. ncbi request reprint Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier
    T J Vulliamy
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Blood 94:1254-60. 1999
    ..Investigation of her blood cells and other somatic tissues showed that a small proportion of these cells also carried the deletion, making her a somatic mosaic and indicating that the deletion took place early in development...
  6. ncbi request reprint Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
    S W Knight
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Hum Genet 108:299-303. 2001
    ..This is the first report of DKC1 mutations that are predicted to affect the level of expression of dyskerin. This suggests that a decrease in the amount of the normal protein may cause the disease...
  7. ncbi request reprint Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
    T J Vulliamy
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, 4th Floor Commonwealth Building, Du Cane Road, London, W12 ONN, United Kingdom
    Blood Cells Mol Dis 27:353-7. 2001
    ..The further characterization of these genes will not only lead to a better understanding of the biology of DC but may also provide further insights into the maintenance of telomeres and the biology of aplastic anemia, ageing, and cancer...
  8. pmc X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
    S W Knight
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom
    Am J Hum Genet 65:50-8. 1999
    ..It is apparent that X-linked dyskeratosis congenita is predominantly caused by missense mutations; the precise effect on the function of dyskerin remains to be determined...
  9. ncbi request reprint Molecular heterogeneity underlying the G6PD Mediterranean phenotype
    C M Corcoran
    Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Hum Genet 88:688-90. 1992
    ..We name this new variant G6PD Coimbra...
  10. ncbi request reprint Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
    S W Knight
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, U K
    Br J Haematol 107:335-9. 1999
    ..Boys with unexplained AA or immunodeficiency should be tested for mutations in DKC1 even though they may lack diagnostic features of DC...
  11. ncbi request reprint X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    N S Heiss
    Deutsches Krebsforschungszentrum, Department of Molecular Genome Analysis, Heidelberg, Germany
    Nat Genet 19:32-8. 1998
    ..By analogy to the function of the known dyskerin orthologues, involvement in the cell cycle and nucleolar function is predicted for the protein...
  12. ncbi request reprint Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant
    M J Percy
    Department of Haematology, Floor C, Tower Block, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, N Ireland
    Blood Cells Mol Dis 36:81-90. 2006
    ..Thus, cytochrome b(5) reductase deficient patients who are heterozygous for either FAD- or NADH-binding lobe mutations can exhibit the clinically less severe type I phenotype...
  13. pmc Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific)
    M Ganczakowski
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Am J Hum Genet 56:294-301. 1995
    ..G6PD deficiency is of clinical importance in Vanuatu because it is a cause of neonatal jaundice and is responsible for numerous episodes of drug-induced acute hemolytic anemia...