Genomes and Genes
Affiliation: University of Manchester
- RAD51 homologous recombination repair gene haplotypes and risk of acute myeloid leukaemiaSara Rollinson
Division of Laboratory and Regenerative Medicine, Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, United Kingdom
Leuk Res 31:169-74. 2007..9% versus controls 6.5%, OR 0.61, 95% CI 0.42-0.90). These data suggest that variants in the RAD51 HR gene may modulate genetic predisposition to AML...
- Haplotypic variation in MRE11, RAD50 and NBS1 and risk of non-Hodgkin's lymphomaSara Rollinson
Division of Laboratory and Regenerative Medicine, University of Manchester, Manchester, UK
Leuk Lymphoma 47:2567-83. 2006..72, 95% CI 0.53 - 0.97) for diffuse large B-cell lymphoma. While reproduction of this data in other datasets is indicated, the results are indicative for a role for MRE11 in non-Hodgkin's lymphoma...
- In vitro generation of tumor specific T cells that recognize a shared antigen of AML: molecular characterization of TCR genesMyra Coppage
University of Rochester Department of Pathology and Laboratory Medicine, 601 Elmwood Avenue, Rochester, NY 14642, United States
Leuk Res 31:195-202. 2007..These three AML samples share a single HLA Class I antigen, HLA-A24. The T cell receptor genes identified by molecular methods are Vbeta7.9-J2.3-Cbeta2 and Valpha17-J49-Calpha...
- Analysis of optineurin in frontotemporal lobar degenerationSara Rollinson
Neurodegeneration and Mental Health Research Group, Faculty of Human and Medical Sciences, University of Manchester, Manchester, UK
Neurobiol Aging 33:425.e1-2. 2012..It has been reported that mutations in optineurin (OPTN) can cause ALS. Therefore, we sequenced OPTN in 371 FTLD cases but no mutations were detected, suggesting changes in OPTN do not cause FTLD...
- Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's diseaseSara Rollinson
Mental Health and Neurodegeneration Research Group, Faculty of Human and Medical Sciences, University of Manchester, AV Hill Building, Oxford Road, Manchester M13 9PT, UK
Neurobiol Aging 33:1846.e5-6. 2012..A normal range of repeats was found in all cases. We conclude that the hexanucleotide repeat expansion is specific to the FTLD/ALS disease spectrum...
- Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosisSara Rollinson
Neurodegeneration and Mental Health Research Group, Faculty of Human and Medical Sciences, University of Manchester, Av, Hill Building, Oxford Road, Manchester, M13 9PT, UK
Neurobiol Aging 32:758.e1-7. 2011..These data confirm that FTLD and amyotrophic lateral sclerosis (ALS) share a common genetic risk factor on chromosome 9p...
- Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degenerationSara Rollinson
Clinical Neurosciences, Faculty of Human and Medical Sciences, University of Manchester, Oxford Road, Manchester M13 9PT, UK
Neurobiol Aging 30:656-65. 2009..Our data for the first time identifies UBAP1 as a genetic risk factor for FTLD and suggests a mechanistic relationship between this protein and TDP-43...
- No association of PGRN 3'UTR rs5848 in frontotemporal lobar degenerationSara Rollinson
Clinical Neurosciences Research Group, Faculty of Human and Medical Sciences, University of Manchester, Oxford Road, Manchester, M13 9PT, UK
Neurobiol Aging 32:754-5. 2011..No association of rs5848 with FTLD was observed in any individual cohort nor was any observed when the data was combined. These data argue that rs5848 is not a risk factor for FTLD...
- No interaction between tau and TDP-43 pathologies in either Frontotemporal Lobar Degeneration or Motor Neurone DiseaseAndrew C Robinson
Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford, M6 8HD, UK
Neuropathol Appl Neurobiol . 2014..While such a classification implies only a single type of protein should be present, recent studies have demonstrated dual tau and TDP-43 proteinopathy can occur, particularly in inherited FTLD...
- Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72Yvonne S Davidson
Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford M6 8HD, UK
Acta Neuropathol Commun 2:70. 2014....
- The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS geneJulie S Snowden
Mental Health and Neurodegeneration Research Group, Faculty of Human and Medical Sciences, University of Manchester, Manchester, UK
Acta Neuropathol 122:99-110. 2011..Whether mutations in the FUS gene cause some cases of FTLD remains unresolved...
- UBAP1 is a component of an endosome-specific ESCRT-I complex that is essential for MVB sortingFlavia Stefani
Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK
Curr Biol 21:1245-50. 2011..UBAP1 is part of a complex that contains a fraction of total cellular TSG101 and that also contains VPS37A but not VPS37C. Hence, the presence of UBAP1, in combination with VPS37A, defines an endosome-specific ESCRT-I complex...
- TDP-43 gene analysis in frontotemporal lobar degenerationSara Rollinson
Division of Regenerative Medicine, Department of Medicine, University of Manchester, Oxford Road, Manchester M13 9PT, UK
Neurosci Lett 419:1-4. 2007..We found no evidence of TDP-43 variation increasing risk for FTLD in this cohort. These data suggest that TDP-43 accumulation is a consequence of the disease process underlying FTLD...
- Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutationsStuart M Pickering-Brown
Clinical Neuroscience Research Group, Faculty of Medical and Human Sciences, University of Manchester, Oxford Rd, Manchester M13 9PT, UK
Brain 131:721-31. 2008..These findings complement recent clinico-pathological findings in suggesting identifiable associations between clinical phenotype and genotype in FTLD...
- The genetics of frontotemporal lobar degenerationStephen Sikkink
Clinical Neurosciences, University of Manchester, Manchester, UK
Curr Opin Neurol 20:693-8. 2007..Up to 40% of patients with frontotemporal lobar degeneration have a family history of a similar disorder in a first-degree relative, highlighting a significant genetic contribution to the aetiology of this disorder...
- Polymorphisms in cytochrome P450 17A1 and risk of non-Hodgkin lymphomaChristine F Skibola
Division of Environmental Health Sciences, School of Public Health, 140 Earl Warren Hall, University of California, Berkeley, CA 94720 7360, USA
Br J Haematol 129:618-21. 2005..44, 95% confidence interval (CI) 1.02-2.03], particularly diffuse large B-cell lymphoma (OR = 1.76, CI 1.14-2.71). Associations of CYP17A1 polymorphisms with increased risk of NHL suggest a role for oestrogen in lymphomagenesis...
- Poor metabolizer status at the cytochrome P450 2C9 and 2D6 loci does not modulate susceptibility to therapy-related acute myeloid leukaemiaPhilippa L Roddam
Br J Haematol 121:192-4. 2003
- CYP1A1*2B (Val) allele is overrepresented in a subgroup of acute myeloid leukemia patients with poor-risk karyotype associated with NRAS mutation, but not associated with FLT3 internal tandem duplicationDavid T Bowen
Department of Molecular and Cellular Pathology, University of Dundee, Dundee, United Kingdom
Blood 101:2770-4. 2003....
- Allele and haplotype frequency at human leucocyte antigen class I/II and immunomodulatory cytokine loci in patients with myelodysplasia and acute myeloid leukaemia: in search of an autoimmune aetiologyDuncan Gowans
Department of Molecular and Cellular Pathology, Ninewells Hospital, Dundee DD1 9SY, Scotland, UK
Br J Haematol 117:541-5. 2002..We can find no genetic influence for these polymorphisms in HLA class I/II, TNF-alpha/LT-alpha and IL-10 loci on either predisposition or disease progression in MDS/AML...
- Gastric marginal zone lymphoma is associated with polymorphisms in genes involved in inflammatory response and antioxidative capacitySara Rollinson
Epidemiology and Genetics Unit, University of Leeds, Leeds, United Kingdom
Blood 102:1007-11. 2003..29; 95% CI 6.92-150-63). These results support the hypothesis that the risk of developing GMZL is influenced by inter-individual variation in the cellular inflammatory immune responses to H pylori infection, and to antioxidative capacity...
- Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemiaKathryn Sibley
Leukaemia Research Fund, Epidemiology and Genetics Unit, School of Medicine, University of Leeds, Leeds LS2 9JT, United Kingdom
Cancer Res 63:4327-30. 2003..5%; odds ratio, 6.72; 95% confidence interval, 3.13-14.51). These data suggest that variation in the FAS gene promoter may affect FAS gene expression and modulate apoptotic signaling, contributing to an increased risk of AML...
- An intron splice acceptor polymorphism in hMSH2 and risk of leukemia after treatment with chemotherapeutic alkylating agentsLisa J Worrillow
Leukaemia Research Fund Epidemiology and Genetics Unit, Academic Unit of Epidemiology, School of Medicine, University of Leeds, Leeds LS2 9JT, United Kingdom
Clin Cancer Res 9:3012-20. 2003..MSI was evaluated in presentation bone marrow from 34 cases using the mononucleotide microsatellite markers BAT16, BAT25, and BAT26...
- Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Matt Baker
Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
Nature 442:916-9. 2006..Our results identify mutations in PGRN as a cause of neurodegenerative disease and indicate the importance of PGRN function for neuronal survival...
- Haplotypes in the tumour necrosis factor region and myelomaGareth J Morgan
Section of Haemato oncology, Institute for Cancer Research, Royal Marsden Hospital, London, UK
Br J Haematol 129:358-65. 2005..57; 95% confidence interval, 0.38-0.86. The results of this study did not support our starting hypothesis; that high producer haplotypes at the TNF locus are associated with an increased risk of developing myeloma...
- Polymorphic variation in GSTP1 modulates outcome following therapy for multiple myelomaRanjit K Dasgupta
Academic Unit of Hematology and Oncology, University of Leeds, United Kingdom
Blood 102:2345-50. 2003..No difference in outcome by genotype was found for patients treated with high-dose therapy. However, the progression-free survival advantage of the high-dose arm was seen only in patients homozygous for 105Ile (P =.008)...
- High-throughput association testing on DNA pools to identify genetic variants that confer susceptibility to acute myeloid leukemiaSara Rollinson
Leukaemia Research Fund Epidemiology and Genetics Unit, School of Medicine, University of Leeds, United Kingdom
Cancer Epidemiol Biomarkers Prev 13:795-800. 2004..76, 95% confidence interval 1.26-2.44). These data suggest that quantitative AS PCR can be used as an efficient screening technique for disease associations of genetic variants in DNA pools made from case-control studies...
- Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymph ConsortiumNathaniel Rothman
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Lancet Oncol 7:27-38. 2006..We aimed to test this hypothesis using previously unpublished data from eight European, Canadian, and US case-control studies of the International Lymphoma Epidemiology Consortium (InterLymph)...
- Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemiaChristine F Skibola
NFCR Center for Genomics and Nutrition, School of Public Health, and the Department of Nutritional Sciences, University of California, Berkeley, CA 94720 7360, USA
Blood 99:3786-91. 2002....