Professor David Allsup's Outputs (69)

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants (2019)
Journal Article
Bury, L., Megy, K., Stephens, J. C., Grassi, L., Greene, D., Gleadall, N., Althaus, K., Allsup, D., Bariana, T. K., Bonduel, M., Butta, N. V., Collins, P., Curry, N., Deevi, S. V., Downes, K., Duarte, D., Elliott, K., Falcinelli, E., Furie, B., Keeling, D., …Westbury, S. K. (2020). Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. Human Mutation, 41(1), 277-290. https://doi.org/10.1002/humu.23927

Human Mutation published by Wiley Periodicals, Inc. The heterogeneous manifestations of MYH9-related disorder (MYH9-RD), characterized by macrothrombocytopenia, Döhle-like inclusion bodies in leukocytes, bleeding of variable severity with, in some ca... Read More about Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

Germline selection shapes human mitochondrial DNA diversity (2019)
Journal Article
Wei, W., Tuna, S., Keogh, M. J., Smith, K. R., Aitman, T. J., Beales, P. L., Bennett, D. L., Gale, D. P., Bitner, M. A. K., Ashford, S., Penkett, C. J., Stirrups, K. E., Rendon, A., Ouwehand, W. H., Bradley, J. R., Raymond, L., Caulfield, M., Turro, E., & Chinnery, P. F. (2019). Germline selection shapes human mitochondrial DNA diversity. Science, 364(6442), Article eaau6520. https://doi.org/10.1126/science.aau6520

INTRODUCTION
Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows homoplasmic variation at >1% frequency in humans. Migration patterns have contributed to geographic differences in the frequency of common genetic variants, but population... Read More about Germline selection shapes human mitochondrial DNA diversity.

Bioimprint aided cell recognition and depletion of human leukemic HL60 cells from peripheral blood (2019)
Journal Article
Das, A. A., Medlock, J., Liang, H., Nees, D., Allsup, D. J., Madden, L. A., & Paunov, V. N. (2019). Bioimprint aided cell recognition and depletion of human leukemic HL60 cells from peripheral blood. Journal of Materials Chemistry B, 7(22), 3497-3504. https://doi.org/10.1039/c9tb00679f

We report a large scale preparation of bioimprints of layers of cultured human leukemic HL60 cells which can perform cell shape and size recognition from a mixture with peripheral blood mononuclear cells (PBMCs). We demonstrate that the bioimprint-ce... Read More about Bioimprint aided cell recognition and depletion of human leukemic HL60 cells from peripheral blood.

Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology (2018)
Journal Article
Went, M., Sud, A., Speedy, H., Sunter, N. J., Försti, A., Law, P. J., Johnson, D. C., Mirabella, F., Holroyd, A., Li, N., Orlando, G., Weinhold, N., van Duin, M., Chen, B., Mitchell, J. S., Mansouri, L., Juliusson, G., Smedby, K. E., Jayne, S., Majid, A., …Houlston, R. S. (2019). Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology. Blood Cancer Journal, 9(1), Article 1. https://doi.org/10.1038/s41408-018-0162-8

© 2018, The Author(s). The clustering of different types of B-cell malignancies in families raises the possibility of shared aetiology. To examine this, we performed cross-trait linkage disequilibrium (LD)-score regression of multiple myeloma (MM) a... Read More about Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology.

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia (2018)
Journal Article
Turro, E., Bariana, T. K., Gomez, K., Labarque, V., Heremans, J., Whitehorn, D., Thys, C., NIHR BioResource, De Reys, M., Freson, K., Greene, D., Frontini, M., Jenkins, B., Ghevaert, C., Grassi, L., Ouwehand, W. H., Seyres, D., Koulman, A., Burden, F., Van Geet, C., …Shamardina, O. (2018). Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. Haematologica, 104(4), haematol.2018.204784. https://doi.org/10.3324/haematol.2018.204784

Sphingolipids are fundamental to membrane trafficking, apoptosis and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for de novo sphingolipid synthesis, and pathogenic mutations in KDSR resul... Read More about Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia (2018)
Journal Article
Johnson, B., Doak, R., Allsup, D., Astwood, E., Evans, G., Grimley, C., James, B., Myers, B., Stokley, S., Thachil, J., Wilde, J., Williams, M., Makris, M., Lowe, G. C., Wallis, Y., Daly, M. E., Morgan, N. V., & the UK GAPP Study Group. (2018). A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia. Research and Practice in Thrombosis and Haemostasis, 2(4), 640-652. https://doi.org/10.1002/rth2.12151

Background: Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet counts and often disproportionate bleeding with over 30 genes currently implicated. Previously the UK-GAPP study using whole exome sequ... Read More about A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Lck is a relevant target in chronic lymphocytic leukaemia cells whose expression variance is unrelated to disease outcome (2017)
Journal Article
Till, K. J., Allen, J. C., Talab, F., Lin, K., Allsup, D., Cawkwell, L., Bentley, A., Ringshausen, I., Duckworth, A. D., Pettitt, A. R., Kalakonda, N., & Slupsky, J. R. (2017). Lck is a relevant target in chronic lymphocytic leukaemia cells whose expression variance is unrelated to disease outcome. Scientific reports, 7(1), Article ARTN 16784. https://doi.org/10.1038/s41598-017-17021-w

© 2017 The Author(s). Pathogenesis of chronic lymphocytic leukaemia (CLL) is contingent upon antigen receptor (BCR) expressed by malignant cells of this disease. Studies on somatic hypermutation of the antigen binding region, receptor expression leve... Read More about Lck is a relevant target in chronic lymphocytic leukaemia cells whose expression variance is unrelated to disease outcome.

The use of ofatumumab in the treatment of B-cell malignancies (2017)
Journal Article
Soe, Z. N., & Allsup, D. (2017). The use of ofatumumab in the treatment of B-cell malignancies. Future oncology, 13(29), 2611-2628. https://doi.org/10.2217/fon-2017-0275

Ofatumumab has been extensively studied in the treatment of B-cell malignancies. Currently, it has been approved for the treatment of chronic lymphocytic leukemia in a number of different situations. However, there is still no compelling evidence con... Read More about The use of ofatumumab in the treatment of B-cell malignancies.

Assessment of ibrutinib plus rituximab in front-line CLL (FLAIR trial): study protocol for a phase III randomised controlled trial (2017)
Journal Article
Collett, L., Howard, D. R., Munir, T., McParland, L., Oughton, J. B., Rawstron, A. C., Hockaday, A., Dimbleby, C., Phillips, D., McMahon, K., Hulme, C., Allsup, D., Bloor, A., & Hillmen, P. (2017). Assessment of ibrutinib plus rituximab in front-line CLL (FLAIR trial): study protocol for a phase III randomised controlled trial. Trials, 18(1), Article 387. https://doi.org/10.1186/s13063-017-2138-6

Background
Treatment of chronic lymphocytic leukaemia (CLL) has seen a substantial improvement over the last few years. Combination immunochemotherapy, such as fludarabine, cyclophosphamide and rituximab (FCR), is now standard first-line therapy. How... Read More about Assessment of ibrutinib plus rituximab in front-line CLL (FLAIR trial): study protocol for a phase III randomised controlled trial.

Cancer bioimprinting and cell shape recognition for diagnosis and targeted treatment (2017)
Journal Article
Medlock, J., Das, A. A. K., Madden, L. A., Allsup, D. J., & Paunov, V. N. (2017). Cancer bioimprinting and cell shape recognition for diagnosis and targeted treatment. Chemical Society Reviews, 46(16), 5110-5127. https://doi.org/10.1039/c7cs00179g

Cancer incidence and mortality have both increased in the last decade and are predicted to continue to rise. Diagnosis and treatment of cancers are often hampered by the inability to specifically target neoplastic cells. Bioimprinting is a promising... Read More about Cancer bioimprinting and cell shape recognition for diagnosis and targeted treatment.

A multi-centre phase I trial of the PARP inhibitor olaparib in patients with relapsed chronic lymphocytic leukaemia, T-prolymphocytic leukaemia or mantle cell lymphoma (2017)
Journal Article
Pratt, G., Yap, C., Oldreive, C., Slade, D., Bishop, R., Griffiths, M., Dyer, M. J., Fegan, C., Oscier, D., Pettitt, A., Matutes, E., Devereux, S., Allsup, D., Bloor, A., Hillmen, P., Follows, G., Rule, S., Moss, P., & Stankovic, T. (2018). A multi-centre phase I trial of the PARP inhibitor olaparib in patients with relapsed chronic lymphocytic leukaemia, T-prolymphocytic leukaemia or mantle cell lymphoma. British journal of haematology, 182(3), 429-433. https://doi.org/10.1111/bjh.14793

Results of the randomized phase IIB ARCTIC trial of low-dose rituximab in previously untreated CLL (2017)
Journal Article
Howard, D. R., Munir, T., McParland, L., Rawstron, A. C., Milligan, D., Schuh, A., Hockaday, A., Allsup, D. J., Marshall, S., Duncombe, A. S., O'Dwyer, J. L., Smith, A. F., Longo, R., Varghese, A., & Hillmen, P. (2017). Results of the randomized phase IIB ARCTIC trial of low-dose rituximab in previously untreated CLL. Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K, 31(11), 2416-2425. https://doi.org/10.1038/leu.2017.96

© 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. ARCTIC was a multicenter, randomized-controlled, open, phase IIB non-inferiority trial in previously untreated chronic lymphocytic leukemia (CLL). Conventional frontli... Read More about Results of the randomized phase IIB ARCTIC trial of low-dose rituximab in previously untreated CLL.

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia (2017)
Journal Article
Law, P. J., Berndt, S. I., Speedy, H. E., Camp, N. J., Sava, G. P., Skibola, C. F., Holroyd, A., Joseph, V., Sunter, N. J., Nieters, A., Bea, S., Monnereau, A., Martin-Garcia, D., Goldin, L. R., Clot, G., Teras, L. R., Quintela, I., Birmann, B. M., Jayne, S., Cozen, W., …Slager, S. (2017). Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. Nature communications, 8, 14175. https://doi.org/10.1038/ncomms14175

Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference pan... Read More about Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.

Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci (2017)
Journal Article
Law, P. J., Sud, A., Mitchell, J. S., Henrion, M., Orlando, G., Lenive, O., Broderick, P., Speedy, H. E., Johnson, D. C., Kaiser, M., Weinhold, N., Cooke, R., Sunter, N. J., Jackson, G. H., Summerfield, G., Harris, R. J., Pettitt, A. R., Allsup, D. J., Carmichael, J., Bailey, J. R., …Houlston, R. S. (2017). Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. Scientific reports, 7, 41071. https://doi.org/10.1038/srep41071

B-cell malignancies (BCM) originate from the same cell of origin, but at different maturation stages and have distinct clinical phenotypes. Although genetic risk variants for individual BCMs have been identified, an agnostic, genome-wide search for s... Read More about Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci.

Chemotherapy plus Ofatumumab at Standard or Mega dose in relapsed CLL (COSMIC) trial: study protocol for a phase II randomised controlled trial (2016)
Journal Article
Howard, D. R., Munir, T., Hockaday, A., Rawstron, A. C., Collett, L., Oughton, J. B., Allsup, D., Bloor, A., Phillips, D., & Hillmen, P. (2016). Chemotherapy plus Ofatumumab at Standard or Mega dose in relapsed CLL (COSMIC) trial: study protocol for a phase II randomised controlled trial. Trials, 17(1), Article 456. https://doi.org/10.1186/s13063-016-1581-0

Background: Chronic lymphocytic leukaemia (CLL) is the most common adult leukaemia. Combination immunochemotherapy such as fludarabine, cyclophosphamide and rituximab is the standard first line therapy in fit patients, but there is limited evidence r... Read More about Chemotherapy plus Ofatumumab at Standard or Mega dose in relapsed CLL (COSMIC) trial: study protocol for a phase II randomised controlled trial.

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects (2016)
Journal Article
Johnson, B., Lowe, G. C., Futterer, J., Lordkipanidzé, M., Macdonald, D., Simpson, M. A., Sanchez-Guiú, I., Drake, S., Bem, D., Leo, V., Fletcher, S. J., Dawood, B., Rivera, J., Allsup, D., Biss, T., Bolton-Maggs, P. H. B., Collins, P., Curry, N., Grimley, C., James, B., …on behalf of the UK GAPP Study Group. (2016). Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica, 101(10), 1170-1179. https://doi.org/10.3324/haematol.2016.146316

© 2016 Ferrata Storti Foundation. Inherited thrombocytopenias are a heterogeneous group of disorders characterized by abnormally low platelet counts which can be associated with abnormal bleeding. Next-generation sequencing has previously been employ... Read More about Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Common variation at 12q24.13 (OAS3) influences chronic lymphocytic leukemia risk (2014)
Journal Article
Sava, G. P., Speedy, H. E., Di Bernardo, M. C., Dyer, M. J., Holroyd, A., Sunter, N. J., Marr, H., Mansouri, L., Deaglio, S., Karabon, L., Frydecka, I., Jamroziak, K., Woszczyk, D., Juliusson, G., Smedby, K. E., Jayne, S., Majid, A., Wang, Y., Dearden, C., Hall, A. G., …Houlston, R. S. (2015). Common variation at 12q24.13 (OAS3) influences chronic lymphocytic leukemia risk. Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K, 29(3), 748-751. https://doi.org/10.1038/leu.2014.311

Telomere dysfunction accurately predicts clinical outcome in chronic lymphocytic leukaemia, even in patients with early stage disease (2014)
Journal Article
Lin, T. T., Norris, K., Heppel, N. H., Pratt, G., Allan, J. M., Allsup, D. J., Bailey, J., Cawkwell, L., Hills, R., Grimstead, J. W., Jones, R. E., Britt-Compton, B., Fegan, C., Baird, D. M., & Pepper, C. (2014). Telomere dysfunction accurately predicts clinical outcome in chronic lymphocytic leukaemia, even in patients with early stage disease. British journal of haematology, 167(2), 214-223. https://doi.org/10.1111/bjh.13023

© 2014 John Wiley & Sons Ltd. Defining the prognosis of individual cancer sufferers remains a significant clinical challenge. Here we assessed the ability of high-resolution single telomere length analysis (STELA), combined with an experimentally d... Read More about Telomere dysfunction accurately predicts clinical outcome in chronic lymphocytic leukaemia, even in patients with early stage disease.

A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia (2013)
Journal Article
Speedy, H. E., Di Bernardo, M. C., Sava, G. P., Dyer, M. J. S., Holroyd, A., Wang, Y., Sunter, N. J., Mansouri, L., Juliusson, G., Smedby, K. E., Roos, G., Jayne, S., Majid, A., Dearden, C., Hall, A. G., Mainou-Fowler, T., Jackson, G. H., Summerfield, G., Harris, R. J., Pettitt, A. R., …Houlston, R. S. (2014). A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Nature genetics, 46(1), 56-60. https://doi.org/10.1038/ng.2843

Genome-wide association studies (GWAS) of chronic lymphocytic leukemia (CLL) have shown that common genetic variation contributes to the heritable risk of CLL. To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-a... Read More about A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

Proteomic analysis of B-cell receptor signaling in chronic lymphocytic leukaemia reveals a possible role for kininogen (2013)
Journal Article
Kashuba, E., Eagle, G. L., Bailey, J., Evans, P., Welham, K. J., Allsup, D., & Cawkwell, L. (2013). Proteomic analysis of B-cell receptor signaling in chronic lymphocytic leukaemia reveals a possible role for kininogen. Journal of Proteomics, 91, 478-485. https://doi.org/10.1016/j.jprot.2013.08.002

CLL is an incurable disease with variable prognosis. The hyper reactivity of the B-cell receptor (BCR) to unknown antigen ligation plays a pivotal role in CLL-cell survival. We aimed to investigate the BCR signalling pathway using proteomics to ident... Read More about Proteomic analysis of B-cell receptor signaling in chronic lymphocytic leukaemia reveals a possible role for kininogen.