Research Topics
Genomes and GenesSpecies | Michael KirwanSummaryAffiliation: Queen Mary Country: UK Publications
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Detail Information
Publications
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...
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...- 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... 
Dyskeratosis congenita: a genetic disorder of many facesM Kirwan
Academic Unit of Paediatrics, Institute for Cell and Molecular Science, Barts and The London, Queen Mary s School of Medicine and Dentistry, University of London, UK
Clin Genet 73:103-12. 2008....- Dyskeratosis congenita, stem cells and telomeresMichael Kirwan
Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK
Biochim Biophys Acta 1792:371-9. 2009..In this context DC and related diseases can now be regarded as disorders of "telomere and stem cell dysfunction"... - 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.... - 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... - 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.... - Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemiaMichael 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.... - 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... - 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... - 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... - 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.... - 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... - 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... - Mutations in the telomere capping complex in bone marrow failure and related syndromesAmanda 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...