T J Vulliamy

Summary

Affiliation: Imperial College School of Medicine
Country: UK

Publications

  1. 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
  2. ncbi request reprint The evidence of clonal evolution with monosomy 7 in aplastic anemia following granulocyte colony-stimulating factor using the polymerase chain reaction
    E Yamazaki
    The First Department of Internal Medicine, Yokohama City University School of Medicine, Yokohama, Japan
    Blood Cells Mol Dis 23:213-8. 1997
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. ncbi request reprint Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression
    P J Mason
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London
    Blood Cells Mol Dis 25:30-7. 1999
  9. pmc A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India
    J S Kaeda
    Department of Haematology, Royal Postgraduate Medical School, London, United Kingdom
    Am J Hum Genet 57:1335-41. 1995
  10. ncbi request reprint Cloning of the glucose 6-phosphate dehydrogenase gene from Plasmodium falciparum
    E O'Brien
    Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Mol Biochem Parasitol 64:313-26. 1994

Collaborators

  • P J Mason
  • Inderjeet Dokal
  • N S Heiss
  • O P Smith
  • M Town
  • K Devriendt
  • W Wanachiwanawin
  • S Wiemann
  • S W Knight
  • A Poustka
  • L Luzzatto
  • E Yamazaki
  • B Morgan
  • J S Kaeda
  • M Ganczakowski
  • R C Hennekam
  • A Jones
  • S Greschner
  • C McMahon
  • C M Aalfs
  • N Varma
  • G S Pai
  • G Lestringant
  • G Stavrides
  • P Richmond
  • E O'Brien
  • J M Naidu
  • J Taguchi
  • H Harano
  • H Mohri
  • H Kanamori
  • T Okubo
  • C M Corcoran
  • A Kaneko
  • M R Ranjit
  • R P Britt
  • P H Reddy
  • G P Chhotray
  • J B Clegg
  • D K Bowden
  • D J Weatherall
  • D Stevens
  • J M Bautista
  • A Ahluwalia
  • M Cappadoro
  • B Kurdi-Haidar
  • J L Carvajal
  • B Haidar
  • C S Ishwad
  • V Calabro
  • D J Stevens
  • G Tamagnini
  • A Argusti

Detail Information

Publications16

  1. 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...
  2. ncbi request reprint The evidence of clonal evolution with monosomy 7 in aplastic anemia following granulocyte colony-stimulating factor using the polymerase chain reaction
    E Yamazaki
    The First Department of Internal Medicine, Yokohama City University School of Medicine, Yokohama, Japan
    Blood Cells Mol Dis 23:213-8. 1997
    ..These results indicate that the acquisition of monosomy 7 following rhG-CSF treatment dose not always cause clonal evolution to induce hematological malignancies...
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. ncbi request reprint Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression
    P J Mason
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London
    Blood Cells Mol Dis 25:30-7. 1999
    ..Intriguingly this C-terminal portion has some homology with the N-terminal sequence of Plasmodium falciparum G6PD...
  9. pmc A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India
    J S Kaeda
    Department of Haematology, Royal Postgraduate Medical School, London, United Kingdom
    Am J Hum Genet 57:1335-41. 1995
    ..The KmNADP of G6PD Orissa is fivefold higher than that of the normal enzyme. This may be due to the fact that the alanine residue that is replaced by glycine is part of a putative coenzyme-binding site...
  10. ncbi request reprint Cloning of the glucose 6-phosphate dehydrogenase gene from Plasmodium falciparum
    E O'Brien
    Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
    Mol Biochem Parasitol 64:313-26. 1994
    ..The N-terminal portion of the predicted protein has no homology to G6PD, but it contains a peptide in which 7 out of 12 amino acids are identical to the putative glutathione binding site of human glutathione S-transferase...
  11. pmc Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
    T J Vulliamy
    Department of Haematology, Royal Postgraduate Medical School, London, Great Britain
    Proc Natl Acad Sci U S A 85:5171-5. 1988
    ..The mutations observed show a striking predominance of C----T transitions, with CG doublets involved in four of seven cases. Thus, diverse point mutations may account largely for the phenotypic heterogeneity of G6PD deficiency...
  12. ncbi request reprint Human red cell glucose-6-phosphate dehydrogenase is encoded only on the X chromosome
    P J Mason
    Department of Haematology, Royal Postgraduate Medical School, London, England
    Cell 62:9-10. 1990
  13. ncbi request reprint G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu-->Lys mutation
    A Ahluwalia
    Department of Haematology, RPMS, Hammersmith Hospital, London, UK
    Hum Mol Genet 1:209-10. 1992
  14. 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...
  15. 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...
  16. 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...