Tom Vulliamy

Summary

Affiliation: Imperial College
Country: UK

Publications

  1. ncbi Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
    Tom J Vulliamy
    Department of Haematology, Hammersmith Hospital, Du Cane Rd, London, W12 ONN, United Kingdom
    Blood 107:2680-5. 2006
  2. ncbi Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
    Tom J Vulliamy
    Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, London W12 ONN, UK
    Blood Cells Mol Dis 34:257-63. 2005
  3. ncbi Dyskeratosis congenita
    Tom Vulliamy
    Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK
    Semin Hematol 43:157-66. 2006
  4. pmc Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia
    Michael Kirwan
    Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, UK
    Am J Hum Genet 90:888-92. 2012
  5. ncbi Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
    Tom Vulliamy
    Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, DuCane Rd, London W12 ONN, UK
    Nat Genet 36:447-9. 2004
  6. pmc Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations
    Anna Marrone
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary s School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London, E1 2AT, UK
    Haematologica 92:1013-20. 2007
  7. pmc Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome
    Amanda J Walne
    Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, 4 Newark Street, London, UK
    Hum Mol Genet 19:4453-61. 2010
  8. pmc Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
    Anna Marrone
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary s School of Medicine and Dentistry, London, UK
    Blood 110:4198-205. 2007
  9. pmc Exome sequencing identifies MPL as a causative gene in familial aplastic anemia
    Amanda J Walne
    Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London, UK
    Haematologica 97:524-8. 2012
  10. pmc TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
    Amanda J Walne
    Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, London, United Kingdom
    Blood 112:3594-600. 2008

Collaborators

Detail Information

Publications26

  1. ncbi Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
    Tom J Vulliamy
    Department of Haematology, Hammersmith Hospital, Du Cane Rd, London, W12 ONN, United Kingdom
    Blood 107:2680-5. 2006
    ..This study highlights the considerable genetic and phenotypic diversity of DC...
  2. ncbi Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
    Tom J Vulliamy
    Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, London W12 ONN, UK
    Blood Cells Mol Dis 34:257-63. 2005
    ..These are the first natural mutations of TERT to be described and we highlight their possible pathogenic role in the development of bone marrow failure...
  3. ncbi Dyskeratosis congenita
    Tom Vulliamy
    Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK
    Semin Hematol 43:157-66. 2006
    ..Premature shortening of telomeres resulting in a limited proliferative potential of stem cells would explain the pathology observed in DC, as the affected tissues are those that require constant renewal...
  4. pmc Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia
    Michael Kirwan
    Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, UK
    Am J Hum Genet 90:888-92. 2012
    ..These results suggest that inherited mutations in a component of the SRP have a role in the pathophysiology of AA/MDS, identifying a third pathway for developing these disorders alongside transcription factor and telomerase mutations...
  5. ncbi Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
    Tom Vulliamy
    Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, DuCane Rd, London W12 ONN, UK
    Nat Genet 36:447-9. 2004
    ..Here we show that disease anticipation is observed in families with this disease and that this is associated with progressive telomere shortening...
  6. pmc Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations
    Anna Marrone
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary s School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London, E1 2AT, UK
    Haematologica 92:1013-20. 2007
    ..The aim of this study was to establish the role of TERC in the pathophysiology of uncharacterized patients with AA with some features of DC...
  7. pmc Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome
    Amanda J Walne
    Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, 4 Newark Street, London, UK
    Hum Mol Genet 19:4453-61. 2010
    ....
  8. pmc Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
    Anna Marrone
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary s School of Medicine and Dentistry, London, UK
    Blood 110:4198-205. 2007
    ..Collectively, the findings from this study demonstrate that homozygous TERT mutations, resulting in a pure but severe telomerase deficiency, produce a phenotype of classical AR-DC and its severe variant, the HH syndrome...
  9. pmc Exome sequencing identifies MPL as a causative gene in familial aplastic anemia
    Amanda J Walne
    Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London, UK
    Haematologica 97:524-8. 2012
    ..This study shows for the first time a link between homozygous MPL mutations and familial aplastic anemia. It also highlights the important role of MPL in trilineage hematopoiesis...
  10. pmc TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
    Amanda J Walne
    Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, London, United Kingdom
    Blood 112:3594-600. 2008
    ..In this large series, TINF2 mutations account for approximately 11% of all DC, but they do not play a significant role in patients with related disorders. This study emphasises the role of defective telomere maintenance on human disease...
  11. ncbi Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency
    Anna Marrone
    Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, London, United Kingdom
    Blood 104:3936-42. 2004
    ..Finally, experiments reconstituting telomerase with both normal and mutant TERC molecules suggest the mutations act via haploinsufficiency rather than by a dominant-negative mechanism...
  12. doi Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients
    Michael Kirwan
    Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
    Br J Haematol 144:771-81. 2009
    ..This is the first study of its kind in DC lymphocytes and the first to demonstrate that transduction with TERC alone can improve cell survival and telomere length without the need for exogenous TERT...
  13. pmc Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
    Amanda J Walne
    Centre for Paediatrics, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, London, UK
    Am J Hum Genet 92:448-53. 2013
    ..They also demonstrate the severe multisystem consequences of its dysfunction...
  14. doi Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia
    Harriet Holme
    Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, London, UK
    Br J Haematol 158:242-8. 2012
    ....
  15. pmc Dyskeratosis congenita and the DNA damage response
    Michael Kirwan
    Centre for Paediatrics, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London, UK
    Br J Haematol 153:634-43. 2011
    ..As the response to induced DNA damage was normal and levels of global DNA damage were inconsistent between cell types, DNA damage may contribute differently to the pathology in different tissues...
  16. ncbi Association between aplastic anaemia and mutations in telomerase RNA
    Tom Vulliamy
    Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College of Science, Technology and Medicine, Hammersmith Hospital, London W12 0NN, UK
    Lancet 359:2168-70. 2002
    ..027). These data indicate that, in a subset of patients with aplastic anaemia, the disorder might be associated with a genetic lesion in the telomere maintenance pathway...
  17. ncbi Dyskeratosis congenita: its link to telomerase and aplastic anaemia
    Inderjeet Dokal
    Department of Haematology Division of Investigative Science, Faculty of Medicine, Imperial College, Hammersmith Hospital, Commonwealth Building, London, UK
    Blood Rev 17:217-25. 2003
    ..The link between DC and AA and in turn to defective telomerase suggests that treatments directed at correction of telomerase activity might benefit DC/AA patients who do not respond to conventional therapy...
  18. doi Inherited aplastic anaemias/bone marrow failure syndromes
    Inderjeet Dokal
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London, UK
    Blood Rev 22:141-53. 2008
    ..These advances have led to improved diagnosis of patients with these disorders. They may now also provide the platform for developing new treatments...
  19. doi Inflammatory skin and bowel disease linked to ADAM17 deletion
    Diana C Blaydon
    Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
    N Engl J Med 365:1502-8. 2011
    ..Despite repeated skin infections, this young man has led a relatively normal life. (Funded by Barts and the London Charity and the European Commission Seventh Framework Programme.)...
  20. doi Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases
    Sahar Mansour
    SW Thames Regional Genetics Service, St George s, University of London, London, UK
    Am J Med Genet A 152:2287-96. 2010
    ..Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency...
  21. 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
    ....
  22. pmc Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
    Amanda J Walne
    Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary s School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London E1 2AT, UK
    Hum Mol Genet 16:1619-29. 2007
    ..This further strengthens the model that defective telomere maintenance is the primary pathology in DC and substantiates the evidence in humans for the involvement of NOP10 in the telomerase complex and telomere maintenance...
  23. doi Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations
    Lina Basel-Vanagaite
    Haematologica 93:943-4. 2008
  24. doi Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita
    Michael Kirwan
    Br J Haematol 140:719-22. 2008
  25. ncbi Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)
    Hans Knoblauch
    Institut fur Medizinische Genetik, Medizinische Fakultät Charité, Humboldt Universitat zu Berlin, Germany
    Am J Med Genet A 120:261-5. 2003
    ..The parents are non-consanguineous and further family history was unremarkable. The findings in these boys overlap with features described in congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)...
  26. ncbi Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice
    Jun He
    Department of Internal Medicine, Div Hematology, Washington University School of Medicine, St Louis, Missouri, MO 63110, USA
    Oncogene 21:7740-4. 2002
    ..Since mice with no telomerase are viable in the first generations the lethality we observe is unlikely to be due to the effects of mutated dyskerin on telomerase activity...