Amanda J Walne

Summary

Affiliation: Imperial College
Country: UK

Publications

  1. ncbi Dyskeratosis congenita: a disorder of defective telomere maintenance?
    Amanda J Walne
    Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, United Kingdom
    Int J Hematol 82:184-9. 2005
  2. pmc Telomerase dysfunction and dyskeratosis congenita
    Amanda J Walne
    Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 ONN, United Kingdom
    Cytotechnology 45:13-22. 2004
  3. 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
  4. 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
  5. ncbi Dyskeratosis Congenita: a historical perspective
    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
    Mech Ageing Dev 129:48-59. 2008
  6. doi Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita
    Michael Kirwan
    Br J Haematol 140:719-22. 2008

Detail Information

Publications6

  1. ncbi Dyskeratosis congenita: a disorder of defective telomere maintenance?
    Amanda J Walne
    Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, United Kingdom
    Int J Hematol 82:184-9. 2005
    ..The study of DC highlights the importance of telomerase in humans and how its deficiency results in multiple abnormalities, including premature aging, bone marrow failure, and cancer...
  2. pmc Telomerase dysfunction and dyskeratosis congenita
    Amanda J Walne
    Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 ONN, United Kingdom
    Cytotechnology 45:13-22. 2004
    ..The study of DC has highlighted the critical role of telomerase and the consequences, including premature aging and malignancy, of its dysfunction...
  3. 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...
  4. 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...
  5. ncbi Dyskeratosis Congenita: a historical perspective
    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
    Mech Ageing Dev 129:48-59. 2008
    ..Although this review is not intended to be an exhaustive citation of the literature available it does provide a summary of the key developments, citing particularly the earlier reports of each development...
  6. doi Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita
    Michael Kirwan
    Br J Haematol 140:719-22. 2008