Research Topics
Genomes and GenesSpecies | Tom VulliamySummaryAffiliation: Imperial College Country: UK Publications
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Publications
Dyskeratosis congenitaTom 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...- Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failureTom 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... - Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentationTom 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... 
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasiaMichael 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...- Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERCTom 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... - Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentationsAnna 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... - Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndromeAmanda 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.... - Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndromeAnna 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... - Exome sequencing identifies MPL as a causative gene in familial aplastic anemiaAmanda 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... - TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromesAmanda 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... - Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiencyAnna 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... 
Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patientsMichael 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...- Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemiaHarriet 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.... - Dyskeratosis congenita and the DNA damage responseMichael 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... - Association between aplastic anaemia and mutations in telomerase RNATom 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... - Dyskeratosis congenita: its link to telomerase and aplastic anaemiaInderjeet 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... - Constitutional mutations in RTEL1 cause severe dyskeratosis congenitaAmanda 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... - Inherited aplastic anaemias/bone marrow failure syndromesInderjeet 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... - Inflammatory skin and bowel disease linked to ADAM17 deletionDiana 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.)... - Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new casesSahar 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... - Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10Amanda 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... - Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenitaTom 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.... - Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutationsLina Basel-Vanagaite
Haematologica 93:943-4. 2008 - Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenitaMichael Kirwan
Br J Haematol 140:719-22. 2008 - Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)Hans Knoblauch
, , , 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)... - Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in miceJun 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...