Amanda J Walne

Summary

Affiliation: Queen Mary
Country: UK

Publications

  1. 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
  2. pmc Mutations in the telomere capping complex in bone marrow failure and related syndromes
    Amanda J Walne
    Centre for Paediatrics, Barts, UK
    Haematologica 98:334-8. 2013
  3. 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
  4. 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
  5. pmc Advances in the understanding of dyskeratosis congenita
    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, London, UK
    Br J Haematol 145:164-72. 2009
  6. 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
  7. 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
  8. ncbi request reprint 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
  9. 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
  10. doi request reprint 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

Detail Information

Publications15

  1. 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...
  2. pmc Mutations in the telomere capping complex in bone marrow failure and related syndromes
    Amanda J Walne
    Centre for Paediatrics, Barts, UK
    Haematologica 98:334-8. 2013
    ..The study also demonstrates the lack of disease-causing mutations in other components of the telomere-capping complex...
  3. 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...
  4. 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
    ....
  5. pmc Advances in the understanding of dyskeratosis congenita
    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, London, UK
    Br J Haematol 145:164-72. 2009
    ..They have also increased our understanding of normal haematopoiesis and provided new insights to the aetiology of some cases of aplastic anaemia and related haematological disorders...
  6. 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...
  7. 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...
  8. ncbi request reprint 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...
  9. 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...
  10. doi request reprint 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...
  11. 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...
  12. doi request reprint Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia
    Michael Kirwan
    Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, United Kingdom
    Hum Mutat 30:1567-73. 2009
    ....
  13. ncbi request reprint 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...
  14. 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...
  15. doi request reprint Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita
    Michael Kirwan
    Br J Haematol 140:719-22. 2008