Author: "Stubbs, Matthew" - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Stubbs, Matthew"' showing total 425 results

Start Over Author "Stubbs, Matthew"

425 results on '"Stubbs, Matthew"'

101. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Author: Thaventhiran, James E.D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H.R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, Wellcome Trust, Thaventhiran, James [0000-0001-8616-074X], Lango Allen, Hana [0000-0002-7803-8688], Burren, Oliver [0000-0002-3388-5760], Rae, William [0000-0003-0095-2514], Zhang, Zinan [0000-0003-3831-2272], Megy, Karyn [0000-0002-2826-3879], Johnson, Kathleen [0000-0002-6823-3252], Smith, Kenneth [0000-0003-3829-4326], Apollo - University of Cambridge Repository, University of St Andrews. School of Medicine, University of St Andrews. Statistics, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, Ege Üniversitesi, Experimental Immunology, Graduate School, AII - Inflammatory diseases, Infectious diseases, APH - Aging & Later Life, APH - Global Health, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, APH - Quality of Care, ACS - Atherosclerosis & ischemic syndromes, Biochemie, RS: Carim - B03 Cell biochemistry of thrombosis and haemostasis, Faculteit FHML Centraal, MUMC+: DA CDL Algemeen (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Hematologie (9), Interne Geneeskunde, and Promovendi CD
Subjects: 0301 basic medicine, Male, Protein Tyrosine Phosphatase, Non-Receptor Type 2/genetics, Genome-wide association study, VARIANTS, Regulatory Sequences, Nucleic Acid, medicine.disease_cause, Genome, Cohort Studies, 0302 clinical medicine, RARE, QR180 Immunology, Primary Immunodeficiency Consortium for the NIHR Bioresource, Genetics, Protein Tyrosine Phosphatase, Non-Receptor Type 2, Multidisciplinary, Suppressor of Cytokine Signaling 1 Protein/genetics, GENETIC-VARIATION, RNA-Binding Proteins, Primary Immunodeficiency Diseases/diagnosis, ASSOCIATION, Penetrance, Multidisciplinary Sciences, DEFICIENCY, QR180, Science & Technology - Other Topics, Female, General Science & Technology, Primary Immunodeficiency Diseases, Transcription Factors/genetics, Genomics, COMMON VARIABLE IMMUNODEFICIENCY, QH426 Genetics, Biology, Article, Actin-Related Protein 2-3 Complex, 03 medical and health sciences, Suppressor of Cytokine Signaling 1 Protein, SDG 3 - Good Health and Well-being, SUPPRESSOR, Actin-Related Protein 2-3 Complex/genetics, medicine, Humans, QH426, Whole genome sequencing, Science & Technology, Whole Genome Sequencing, Common variable immunodeficiency, DAS, Bayes Theorem, Immune dysregulation, Regulatory Sequences, Nucleic Acid/genetics, medicine.disease, RNA-Binding Proteins/genetics, STAT1 MUTATIONS, 030104 developmental biology, Primary immunodeficiency, IUIS PHENOTYPIC CLASSIFICATION, GAIN, 030215 immunology, Genome-Wide Association Study, Transcription Factors
Abstract: Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies1–3. Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genetics is not well defined. Here we address these challenges by performing whole-genome sequencing in a large PID cohort of 1,318 participants. An analysis of the coding regions of the genome in 886 index cases of PID found that disease-causing mutations in known genes that are implicated in monogenic PID occurred in 10.3% of these patients, and a Bayesian approach (BeviMed4) identified multiple new candidate PID-associated genes, including IVNS1ABP. We also examined the noncoding genome, and found deletions in regulatory regions that contribute to disease causation. In addition, we used a genome-wide association study to identify loci that are associated with PID, and found evidence for the colocalization of—and interplay between—novel high-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci). This begins to explain the contribution of common variants to the variable penetrance and phenotypic complexity that are observed in PID. Thus, using a cohort-based whole-genome-sequencing approach in the diagnosis of PID can increase diagnostic yield and further our understanding of the key pathways that influence immune responsiveness in humans. © 2020, The Author(s), under exclusive licence to Springer Nature Limited., Wellcome Trust, WT: 104807/Z/14/Z University College London, UCL: 100140/Z/12/Z, 107212/Z/15/Z, MR/L019027, 203141/Z/16/Z, 091157/Z/10/Z Bundesministerium für Bildung und Forschung, BMBF: 01ZX1306A University of Cambridge 201250/Z/16/Z 01ZX1709 Seventh Framework Programme, FP7 NIHR Bristol Biomedical Research Centre Deutsche Forschungsgemeinschaft, DFG Deutsche Forschungsgemeinschaft, DFG: EXC 2167-390884018 Juvenile Diabetes Research Foundation United Kingdom, JDRF: 9-2011-253, 5-SRA-2015-130-A-N National Institute for Health Research, NIHR: RG65966 Medical Research Council, MRC: RG95376, MR/L006197/1 Great Ormond Street Hospital for Children, GOSH, Acknowledgements The NBR-RD PID Consortium is part of the NIHR BioResource, for which funding was provided by the NIHR (NIHR, grant number RG65966). We acknowledge the participation of all NIHR BioResource volunteers, and thank the NIHR BioResource centre and staff for their contribution. J.E.D.T. is supported by the Medical Research Council (MRC) (RG95376 and MR/L006197/1); A.J.T. is supported by the Wellcome Trust (104807/Z/14/Z) and the NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London; K.G.C.S. is supported by the MRC (programme grant MR/L019027) and is a Wellcome Investigator; A.J.C. was supported by the Wellcome Trust (091157/Z/10/Z, 107212/Z/15/Z, 100140/Z/12/Z, 203141/Z/16/Z), JDRF (9-2011-253, 5-SRA-2015-130-A-N), NIHR Oxford Biomedical Research Centre and NIHR Cambridge Biomedical Research Centre; E.E. has received funding from the European Union Seventh Framework Programme (FP7-PEOPLE-2013-COFUND) under grant agreement number 609020-Scientia Fellows; E.R. is supported by the Wellcome Trust (201250/Z/16/Z); D.E. is supported by the German Federal Ministry of Education and Research (BMBF) within the framework of the e:Med research and funding concept (SysInflame grant 01ZX1306A; GB-XMAP grant 01ZX1709) and funded by the Deutsche Forschungsgemeinschaft (DFG; German Research Foundation) under Germany’s Excellence Strategy (EXC 2167-390884018). The NIHR Cambridge Biomedical Research Centre (BRC) is a partnership between Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge, funded by the NIHR. This research was co-funded by the support listed above and the NIHR Cambridge BRC.
Published: 2020
Full Text: View/download PDF

102. Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Author: Lentaigne, Claire, Greene, Daniel, Sivapalaratnam, Suthesh, Favier, Remi, Seyres, Denis, Thys, Chantal, Grassi, Luigi, Mangles, Sarah, Sibson, Keith, Stubbs, Matthew, Burden, Frances, Bordet, Jean-Claude, Armari-Alla, Corinne, Erber, Wendy, Farrow, Samantha, Gleadall, Nicholas, Gomez, Keith, Megy, Karyn, Papadia, Sofia, Penkett, Christopher J, Sims, Matthew C, Stefanucci, Luca, Stephens, Jonathan C, Read, Randy J, Stirrups, Kathleen E, Ouwehand, Willem H, Laffan, Michael A, NIHR BioResource, Frontini, Mattia, Freson, Kathleen, Turro, Ernest, Seyres, Denis [0000-0002-2066-6980], Megy, Karyn [0000-0002-2826-3879], Papadia, Sofia [0000-0002-9222-3812], Stefanucci, Luca [0000-0002-4352-1151], Stephens, Jonathan [0000-0003-2020-9330], Read, Randy [0000-0001-8273-0047], Johnson, Kathleen [0000-0002-6823-3252], Ouwehand, Willem [0000-0002-7744-1790], Frontini, Mattia [0000-0001-8074-6299], Turro Bassols, Ernest [0000-0002-1820-6563], and Apollo - University of Cambridge Repository
Subjects: Blood Platelets, Male, Genetic Diseases, Inborn, Mutation, Missense, Cytoplasmic Granules, Thrombocytopenia, Chromatin, Thrombopoiesis, Ikaros Transcription Factor, HEK293 Cells, Gene Expression Regulation, Humans, Female, Germ-Line Mutation
Abstract: To identify novel causes of hereditary thrombocytopenia, we performed a genetic association analysis of whole-genome sequencing data from 13 037 individuals enrolled in the National Institute for Health Research (NIHR) BioResource, including 233 cases with isolated thrombocytopenia. We found an association between rare variants in the transcription factor-encoding gene IKZF5 and thrombocytopenia. We report 5 causal missense variants in or near IKZF5 zinc fingers, of which 2 occurred de novo and 3 co-segregated in 3 pedigrees. A canonical DNA-zinc finger binding model predicts that 3 of the variants alter DNA recognition. Expression studies showed that chromatin binding was disrupted in mutant compared with wild-type IKZF5, and electron microscopy revealed a reduced quantity of α granules in normally sized platelets. Proplatelet formation was reduced in megakaryocytes from 7 cases relative to 6 controls. Comparison of RNA-sequencing data from platelets, monocytes, neutrophils, and CD4+ T cells from 3 cases and 14 healthy controls showed 1194 differentially expressed genes in platelets but only 4 differentially expressed genes in each of the other blood cell types. In conclusion, IKZF5 is a novel transcriptional regulator of megakaryopoiesis and the eighth transcription factor associated with dominant thrombocytopenia in humans.
Published: 2020
Full Text: View/download PDF

103. Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function

Author: Chan, Melissa V, Hayman, Melissa A, Sivapalaratnam, Suthesh, Crescente, Marilena, Allan, Harriet E, Edin, Matthew L, Zeldin, Darryl C, Milne, Ginger L, Stephens, Jonathan, Greene, Daniel, Hanif, Moghees, O'Donnell, Valerie B, Dong, Liang, Malkowski, Michael G, Lentaigne, Claire, Wedderburn, Katherine, Stubbs, Matthew, Downes, Kate, Ouwehand, Willem H, Turro, Ernest, NIHR BioResource, Hart, Daniel P, Freson, Kathleen, Laffan, Michael A, Warner, Timothy D, Chan, Melissa V, Hayman, Melissa A, Sivapalaratnam, Suthesh, Crescente, Marilena, Allan, Harriet E, Edin, Matthew L, Zeldin, Darryl C, Milne, Ginger L, Stephens, Jonathan, Greene, Daniel, Hanif, Moghees, O'Donnell, Valerie B, Dong, Liang, Malkowski, Michael G, Lentaigne, Claire, Wedderburn, Katherine, Stubbs, Matthew, Downes, Kate, Ouwehand, Willem H, Turro, Ernest, NIHR BioResource, Hart, Daniel P, Freson, Kathleen, Laffan, Michael A, and Warner, Timothy D
Abstract: We have identified a rare missense variant on chromosome 9, position 125145990 (GRCh37), in exon 8 in PTGS1 (the gene encoding cyclo-oxygenase 1, COX-1, the target of anti-thrombotic aspirin therapy). We report that in the homozygous state within a large consanguineous family this variant is associated with a bleeding phenotype and alterations in platelet reactivity and eicosanoid production. Western blotting and confocal imaging demonstrated that COX-1 was absent in the platelets of three family members homozygous for the PTGS1 variant but present in their leukocytes. Platelet reactivity, as assessed by aggregometry, lumi-aggregometry and flow cytometry, was impaired in homozygous family members, as were platelet adhesion and spreading. The productions of COX-derived eicosanoids by stimulated platelets were greatly reduced but there were no changes in the levels of urinary metabolites of COX-derived eicosanoids. The proband exhibited additional defects in platelet aggregation and spreading which may explain why her bleeding phenotype was slightly more severe than those of other homozygous affected relatives. This is the first demonstration in humans of the specific loss of platelet COX-1 activity and provides insight into its consequences for platelet function and eicosanoid metabolism. Notably despite the absence of thromboxane A2 (TXA2) formation by platelets, urinary TXA2 metabolites were in the normal range indicating these cannot be assumed as markers of in vivo platelet function. Results from this study are important benchmarks for the effects of aspirin upon platelet COX-1, platelet function and eicosanoid production as they define selective platelet COX-1 ablation within humans.
Published: 2020

104. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Author: Aitman, Timothy, Bennett, David, Caulfield, Mark, Chinnery, Patrick, Gale, Daniel, Koziell, Ania, Kuijpers, Taco W., Laffan, Michael A., Maher, Eamonn, Markus, Hugh S., Morrell, Nicholas W., Ouwehand, Willem H., Perry, David J., Raymond, F. Lucy, Roberts, Irene, Smith, Kenneth G.C., Thrasher, Adrian, Watkins, Hugh, Williamson, Catherine, Woods, Geoffrey, Ashford, Sofie, Bradley, John R., Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Penkett, Christopher J., Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Frary, Amy, Linger, Rachel, Martin, Jennifer M., Papadia, Sofia, Rehnstrom, Karola, Stark, Hannah, Allsup, David, Austin, Steve, Bakchoul, Tamam, Bariana, Tadbir K., Bolton-Maggs, Paula, Chalmers, Elizabeth, Collins, Janine, Collins, Peter, Erber, Wendy N., Everington, Tamara, Favier, Remi, Freson, Kathleen, Furie, Bruce, Gattens, Michael, Gebhart, Johanna, Gomez, Keith, Greene, Daniel, Greinacher, Andreas, Gresele, Paolo, Hart, Daniel, Heemskerk, Johan W.M., Henskens, Yvonne, Kazmi, Rashid, Keeling, David, Kelly, Anne M., Lambert, Michele P., Lentaigne, Claire, Liesner, Ri, Makris, Mike, Mangles, Sarah, Mathias, Mary, Millar, Carolyn M., Mumford, Andrew, Nurden, Paquita, Payne, Jeanette, Pasi, John, Peerlinck, Kathelijne, Revel-Vilk, Shoshana, Richards, Michael, Rondina, Matthew, Roughley, Catherine, Schulman, Sol, Schulze, Harald, Scully, Marie, Sivapalaratnam, Suthesh, Stubbs, Matthew, Tait, R. Campbell, Talks, Kate, Thachil, Jecko, Toh, Cheng-Hock, Turro, Ernest, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q., Watson, Henry, Westbury, Sarah, Furnell, Abigail, Mapeta, Rutendo, Rayner-Matthews, Paula, Simeoni, Ilenia, Staines, Simon, Stephens, Jonathan, Watt, Christopher, Whitehorn, Deborah, Attwood, Antony, Daugherty, Louise, Deevi, Sri V.V., Halmagyi, Csaba, Hu, Fengyuan, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Yu, Ping, von Ziegenweldt, Julie, Astle, William, Bleda, Marta, Carss, Keren J., Gräf, Stefan, Haimel, Matthias, Lango-Allen, Hana, Richardson, Sylvia, Calleja, Paul, Rankin, Stuart, Turek, Wojciech, Anderson, Julie, Bryson, Christine, Carmichael, Jenny, McJannet, Coleen, Stock, Sophie, Allen, Louise, Ambegaonkar, Gautum, Armstrong, Ruth, Arno, Gavin, Bitner-Glindzicz, Maria, Brady, Angie, Canham, Natalie, Chitre, Manali, Clement, Emma, Clowes, Virginia, Deegan, Patrick, Deshpande, Charu, Doffinger, Rainer, Firth, Helen, Flinter, Frances, French, Courtney, Gardham, Alice, Ghali, Neeti, Gissen, Paul, Grozeva, Detelina, Henderson, Robert, Hensiek, Anke, Holden, Simon, Holder, Muriel, Holder, Susan, Hurst, Jane, Josifova, Dragana, Krishnakumar, Deepa, Kurian, Manju A., Lees, Melissa, MacLaren, Robert, Maw, Anna, Mehta, Sarju, Michaelides, Michel, Moore, Anthony, Murphy, Elaine, Park, Soo-Mi, Parker, Alasdair, Patch, Chris, Paterson, Joan, Rankin, Julia, Reid, Evan, Rosser, Elisabeth, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Scott, Richard, Sohal, Aman, Stein, Penelope, Thomas, Ellen, Thompson, Dorothy, Tischkowitz, Marc, Vogt, Julie, Wakeling, Emma, Wassmer, Evangeline, Webster, Andrew, Ali, Sonia, Ali, Souad, Boggard, Harm J., Church, Colin, Coghlan, Gerry, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, DaCosta, Rosa, Dormand, Natalie, Eyries, Mélanie, Gall, Henning, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Ardi, Gibbs, J. Simon R., Girerd, Barbara, Greenhalgh, Alan, Hadinnapola, Charaka, Houweling, Arjan C., Humbert, Marc, in’t Veld, Anna Huis, Kennedy, Fiona, Kiely, David G., Kovacs, Gabor, Lawrie, Allan, Ross, Rob V. Mackenzie, Machado, Rajiv, Masati, Larahmie, Meehan, Sharon, Moledina, Shahin, Montani, David, Othman, Shokri, Peacock, Andrew J., Pepke-Zaba, Joanna, Pollock, Val, Polwarth, Gary, Ranganathan, Lavanya, Rhodes, Christopher J., Rue-Albrecht, Kevin, Schotte, Gwen, Shipley, Debbie, Soubrier, Florent, Southgate, Laura, Scelsi, Laura, Suntharalingam, Jay, Tan, Yvonne, Toshner, Mark, Treacy, Carmen M., Trembath, Richard, Vonk Noordegraaf, Anton, Walker, Sara, Wanjiku, Ivy, Wharton, John, Wilkins, Martin, Wort, Stephen J., Yates, Katherine, Alachkar, Hana, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Chandra, Anita, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Drewe, Elizabeth, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jolles, Stephen, Kelleher, Peter, Kumararatne, Dinakantha, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Murng, Sai, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Richter, Alex, Samarghitean, Crina, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewell, Carrock, Staples, Emily, Stauss, Hans, Thaventhiran, James, Thomas, Moira, Welch, Steve, Willcocks, Lisa, Yeatman, Nigel, Yong, Patrick, Ancliff, Phil, Babbs, Christian, Layton, Mark, Louka, Eleni, McGowan, Simon, Mead, Adam, Roy, Noémi, Chambers, Jenny, Dixon, Peter, Estiu, Cecelia, Hague, Bill, Marschall, Hanns-Ulrich, Simpson, Michael, Chong, Sam, Emmerson, Ingrid, Ginsberg, Lionel, Gosal, David, Hadden, Rob, Horvath, Rita, Mahdi-Rogers, Mohamed, Manzur, Adnan, Marshall, Andrew, Matthews, Emma, McCarthy, Mark, Reilly, Mary, Renton, Tara, Rice, Andrew, Themistocleous, Andreas, Vale, Tom, Van Zuydam, Natalie, Walker, Suellen, Ormondroyd, Liz, Hudson, Gavin, Wei, Wei, Yu Wai Man, Patrick, Whitworth, James, Afzal, Maryam, Colby, Elizabeth, Saleem, Moin, Alavijeh, Omid S., Cook, H. Terry, Johnson, Sally, Levine, Adam P., Wong, Edwin K.S., Tan, Rhea, Boycott, Kym M., MacKenzie, Alex, Majewski, Jacek, Brudno, Michael, Bulman, Dennis, Dyment, David, Ito, Yoko, Duarte, Sofia T., Hartley, Taila, Keren, Boris, Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline, Pfundt, Rolph, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Kernohan, Kristin D., and Dyack, Sarah
Published: 2018
Full Text: View/download PDF

105. The ZF87/MAZ transcription factor functions as a growth suppressor in fibroblasts

Author: Hall, David J, Stubbs, Matthew C, Min, InSung, Izzo, Marc W, Rallapalli, Ravikumar, and Derfoul, Assia
Published: 2000

106. Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018)

Author: Farmery, James HR, Smith, Mike L, Lynch, Andy G, Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P, Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J, Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, in't Veld, Anna Huis, Maw, Anna, Kelly, Anne M, Moore, Anthony, Noordegraaf, Anton Vonk, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C, Girerd, Barbara, Furie, Bruce, Treacy, Carmen M, Millar, Carolyn M, Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Van Geet, Chris, Babbs, Christian, Bryson, Christine, Penkett, Christopher J, Rhodes, Christopher J, Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, McJannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G, Gosal, David, Perry, David J, Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin KS, Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, McDermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma, Oksenhendler, Eric, Turro, Ernest, Reid, Evan, Wassmer, Evangeline, Raymond, F Lucy, Hu, Fengyuan, Kennedy, Fiona, Soubrier, Florent, Flinter, Frances, Kovacs, Gabor, Polwarth, Gary, Ambegaonkar, Gautum, Arno, Gavin, Hudson, Gavin, Woods, Geoff, Coghlan, Gerry, Hayman, Grant, Arumugakani, Gururaj, Schotte, Gwen, Cook, H Terry, Alachkar, Hana, Allen, Hana Lango, Lango-Allen, Hana, Stark, Hannah, Stauss, Hans, Schulze, Harald, Boggard, Harm J, Baxendale, Helen, Dolling, Helen, Firth, Helen, Gall, Henning, Watson, Henry, Longhurst, Hilary, Markus, Hugh S, Watkins, Hugh, Simeoni, Ilenia, Emmerson, Ingrid, Roberts, Irene, Quinti, Isabella, Wanjiku, Ivy, Gibbs, J Simon R, Thaventhiran, James, Whitworth, James, Hurst, Jane, Collins, Janine, Suntharalingam, Jay, Payne, Jeanette, Thachil, Jecko, Martin, Jennifer M, Martin, Jennifer, Carmichael, Jenny, Maimaris, Jesmeen, Paterson, Joan, Pepke-Zaba, Joanna, Heemskerk, Johan WM, Gebhart, Johanna, Davis, John, Pasi, John, Bradley, John R, Wharton, John, Stephens, Jonathan, Rankin, Julia, Anderson, Julie, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Megy, Karyn, Talks, Kate, Peerlinck, Kathelijne, Yates, Katherine, Freson, Kathleen, Stirrups, Kathleen, Gomez, Keith, Smith, Kenneth GC, Carss, Keren, Rue-Albrecht, Kevin, Gilmour, Kimberley, Masati, Larahmie, Scelsi, Laura, Southgate, Laura, Ranganathan, Lavanya, Ginsberg, Lionel, Devlin, Lisa, Willcocks, Lisa, Ormondroyd, Liz, Lorenzo, Lorena, Harper, Lorraine, Allen, Louise, Daugherty, Louise, Chitre, Manali, Kurian, Manju, Humbert, Marc, Tischkowitz, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Scully, Marie, Veltman, Marijke, Caulfield, Mark, Layton, Mark, McCarthy, Mark, Ponsford, Mark, Toshner, Mark, Bleda, Marta, Wilkins, Martin, Mathias, Mary, Reilly, Mary, Afzal, Maryam, Brown, Matthew, Rondina, Matthew, Stubbs, Matthew, Haimel, Matthias, Lees, Melissa, Laffan, Michael A, Browning, Michael, Gattens, Michael, Richards, Michael, Michaelides, Michel, Lambert, Michele P, Makris, Mike, De Vries, Minka, Mahdi-Rogers, Mohamed, Saleem, Moin, Thomas, Moira, Holder, Muriel, Eyries, Melanie, Clements-Brod, Naomi, Canham, Natalie, Dormand, Natalie, Van Zuydam, Natalie, Kingston, Nathalie, Ghali, Neeti, Cooper, Nichola, Morrell, Nicholas W, Yeatman, Nigel, Roy, Noemi, Shamardina, Olga, Alavijeh, Omid S, Gresele, Paolo, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Yong, Patrick, Yu-Wai-Man, Patrick, Corris, Paul A, Calleja, Paul, Gissen, Paul, Bolton-Maggs, Paula, Rayner-Matthews, Paula, Ghataorhe, Pavandeep K, Gordins, Pavel, Stein, Penelope, Collins, Peter, Dixon, Peter, Kelleher, Peter, Ancliff, Phil, Yu, Ping, Tait, R Campbell, Linger, Rachel, Doffinger, Rainer, Machado, Rajiv, Kazmi, Rashid, Sargur, Ravishankar, Favier, Remi, Tan, Rhea, Liesner, Ri, Antrobus, Richard, Sandford, Richard, Scott, Richard, Trembath, Richard, Horvath, Rita, Hadden, Rob, MackenzieRoss, Rob V, Henderson, Robert, MacLaren, Robert, James, Roger, Ghurye, Rohit, DaCosta, Rosa, Hague, Rosie, Mapeta, Rutendo, Armstrong, Ruth, Noorani, Sadia, Murng, Sai, Santra, Saikat, Tuna, Salih, Johnson, Sally, Chong, Sam, Lear, Sara, Walker, Sara, Goddard, Sarah, Mangles, Sarah, Westbury, Sarah, Mehta, Sarju, Hackett, Scott, Nejentsev, Sergey, Moledina, Shahin, Bibi, Shahnaz, Meehan, Sharon, Othman, Shokri, Revel-Vilk, Shoshana, Holden, Simon, McGowan, Simon, Staines, Simon, Savic, Sinisa, Burns, Siobhan, Grigoriadou, Sofia, Papadia, Sofia, Ashford, Sofie, Schulman, Sol, Ali, Sonia, Park, Soo-Mi, Davies, Sophie, Stock, Sophie, Ali, Souad, Deevi, Sri VV, Graf, Stefan, Ghio, Stefano, Wort, Stephen J, Jolles, Stephen, Austin, Steve, Welch, Steve, Meacham, Stuart, Rankin, Stuart, Walker, Suellen, Seneviratne, Suranjith, Holder, Susan, Sivapalaratnam, Suthesh, Richardson, Sylvia, Kuijpers, Taco, Kuijpers, Taco W, Bariana, Tadbir K, Bakchoul, Tamam, Everington, Tamara, Renton, Tara, Young, Tim, Aitman, Timothy, Warner, Timothy Q, Vale, Tom, Hammerton, Tracey, Pollock, Val, Matser, Vera, Cookson, Victoria, Clowes, Virginia, Qasim, Waseem, Wei, Wei, Erber, Wendy N, Ouwehand, Willem H, Astle, William, Egner, William, Turek, Wojciech, Henskens, Yvonne, Tan, Yvonne, and Dis, NIHR BioResource-Rare
Published: 2018

107. Nascent Transcript and Single Cell Rnaseq Analysis Defines the Mechanism of Action of the LSD1 Inhibitor INCB059872 in Myeloid Leukemia

Author: Johnston, Gretchen, primary, Ramsey, Haley E., additional, Stengel, Kristy, additional, Sampathi, Shilpa, additional, Acharya, Pankaj, additional, Arrate, Maria, additional, Stubbs, Matthew C., additional, Burn, Timothy, additional, Hiebert, Scott, additional, and Savona, Michael R., additional
Published: 2019
Full Text: View/download PDF

108. Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

Author: Dufek, Stephanie, primary, Cheshire, Chris, additional, Levine, Adam P., additional, Trompeter, Richard S., additional, Issler, Naomi, additional, Stubbs, Matthew, additional, Mozere, Monika, additional, Gupta, Sanjana, additional, Klootwijk, Enriko, additional, Patel, Vaksha, additional, Hothi, Daljit, additional, Waters, Aoife, additional, Webb, Hazel, additional, Tullus, Kjell, additional, Jenkins, Lucy, additional, Godinho, Lighta, additional, Levtchenko, Elena, additional, Wetzels, Jack, additional, Knoers, Nine, additional, Teeninga, Nynke, additional, Nauta, Jeroen, additional, Shalaby, Mohamed, additional, Eldesoky, Sherif, additional, Kari, Jameela A., additional, Thalgahagoda, Shenal, additional, Ranawaka, Randula, additional, Abeyagunawardena, Asiri, additional, Adeyemo, Adebowale, additional, Kristiansen, Mark, additional, Gbadegesin, Rasheed, additional, Webb, Nicholas J., additional, Gale, Daniel P., additional, Stanescu, Horia C., additional, Kleta, Robert, additional, and Bockenhauer, Detlef, additional
Published: 2019
Full Text: View/download PDF

109. Comparison of Rituximab originator (MabThera) to biosimilar (Truxima) in patients with immune‐mediated thrombotic thrombocytopenic purpura

Author: Stubbs, Matthew J., primary, Low, Ryan, additional, McGuckin, Siobhan, additional, Newton, Rosalind, additional, Thomas, Mari, additional, Westwood, John P., additional, Shah, Raakhee, additional, Cheesman, Simon, additional, and Scully, Marie A., additional
Published: 2019
Full Text: View/download PDF

110. Erratum to: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (Scientific Reports, (2018), 8, 1, (1300), 10.1038/s41598-017-14403-y)

Author: Farmery, James H. R., Smith, Mike L., Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P., Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J., Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, Veld, Anna Huis in’t, Maw, Anna, Kelly, Anne M., Moore, Anthony, Vonk Noordegraaf, Anton, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C., Girerd, Barbara, Furie, Bruce, Treacy, Carmen M., Millar, Carolyn M., Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Geet, Chris Van, Babbs, Christian, Bryson, Christine, Penkett, Christopher J., Rhodes, Christopher J., Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, Mcjannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G., Gosal, David, Perry, David J., Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin K. S., Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, Mcdermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma, Oksenhendler, Eric, Turro, Ernest, Reid, Evan, Wassmer, Evangeline, Raymond, F. Lucy, Fengyuan, Hu, Kennedy, Fiona, Soubrier, Florent, Flinter, Frances, Kovacs, Gabor, Polwarth, Gary, Ambegaonkar, Gautum, Arno, Gavin, Hudson, Gavin, Woods, Geoff, Coghlan, Gerry, Hayman, Grant, Arumugakani, Gururaj, Schotte, Gwen, Cook, H. Terry, Alachkar, Hana, Lango Allen, Hana, Lango-Allen, Hana, Stark, Hannah, Stauss, Hans, Schulze, Harald, Boggard, Harm J., Baxendale, Helen, Dolling, Helen, Firth, Helen, Gall, Henning, Watson, Henry, Longhurst, Hilary, Markus, Hugh S., Watkins, Hugh, Simeoni, Ilenia, Emmerson, Ingrid, Roberts, Irene, Quinti, Isabella, Wanjiku, Ivy, Gibbs, J. Simon R., Thaventhiran, James, Whitworth, James, Hurst, Jane, Collins, Janine, Suntharalingam, Jay, Payne, Jeanette, Thachil, Jecko, Martin, Jennifer M., Martin, Jennifer, Carmichael, Jenny, Maimaris, Jesmeen, Paterson, Joan, Pepke-Zaba, Joanna, Heemskerk, Johan W. M., Gebhart, Johanna, Davis, John, Pasi, John, Bradley, John R., Wharton, John, Stephens, Jonathan, Rankin, Julia, Anderson, Julie, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Megy, Karyn, Talks, Kate, Peerlinck, Kathelijne, Yates, Katherine, Freson, Kathleen, Stirrups, Kathleen, Gomez, Keith, Smith, Kenneth G. C., Carss, Keren, Rue-Albrecht, Kevin, Gilmour, Kimberley, Masati, Larahmie, Scelsi, Laura, Southgate, Laura, Ranganathan, Lavanya, Ginsberg, Lionel, Devlin, Lisa, Willcocks, Lisa, Ormondroyd, Liz, Lorenzo, Lorena, Harper, Lorraine, Allen, Louise, Daugherty, Louise, Chitre, Manali, Kurian, Manju, Humbert, Marc, Tischkowitz, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Scully, Marie, Veltman, Marijke, Caulfield, Mark, Layton, Mark, Mccarthy, Mark, Ponsford, Mark, Toshner, Mark, Bleda, Marta, Wilkins, Martin, Mathias, Mary, Reilly, Mary, Afzal, Maryam, Brown, Matthew, Rondina, Matthew, Stubbs, Matthew, Haimel, Matthias, Lees, Melissa, Laffan, Michael A., Browning, Michael, Gattens, Michael, Richards, Michael, Michaelides, Michel, Lambert, Michele P., Makris, Mike, De Vries, Minka, Mahdi-Rogers, Mohamed, Saleem, Moin, Thomas, Moira, Holder, Muriel, Eyries, Mélanie, Clements-Brod, Naomi, Canham, Natalie, Dormand, Natalie, Zuydam, Natalie Van, Kingston, Nathalie, Ghali, Neeti, Cooper, Nichola, Morrell, Nicholas W., Yeatman, Nigel, Roy, Noémi, Shamardina, Olga, Alavijeh, Omid S., Gresele, Paolo, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Yong, Patrick, Yu-Wai-Man, Patrick, Corris, Paul A., Calleja, Paul, Gissen, Paul, Bolton-Maggs, Paula, Rayner-Matthews, Paula, Ghataorhe, Pavandeep K., Gordins, Pavel, Stein, Penelope, Collins, Peter, Dixon, Peter, Kelleher, Peter, Ancliff, Phil, Ping, Yu, Tait, R. Campbell, Linger, Rachel, Doffinger, Rainer, Machado, Rajiv, Kazmi, Rashid, Sargur, Ravishankar, Favier, Remi, Tan, Rhea, Liesner, Ri, Antrobus, Richard, Sandford, Richard, Scott, Richard, Trembath, Richard, Horvath, Rita, Hadden, Rob, Mackenzieross, Rob V., Henderson, Robert, Maclaren, Robert, James, Roger, Ghurye, Rohit, Dacosta, Rosa, Hague, Rosie, Mapeta, Rutendo, Armstrong, Ruth, Noorani, Sadia, Murng, Sai, Santra, Saikat, Tuna, Salih, Johnson, Sally, Chong, Sam, Lear, Sara, Walker, Sara, Goddard, Sarah, Mangles, Sarah, Westbury, Sarah, Mehta, Sarju, Hackett, Scott, Nejentsev, Sergey, Moledina, Shahin, Bibi, Shahnaz, Meehan, Sharon, Othman, Shokri, Revel-Vilk, Shoshana, Holden, Simon, Mcgowan, Simon, Staines, Simon, Savic, Sinisa, Burns, Siobhan, Grigoriadou, Sofia, Papadia, Sofia, Ashford, Sofie, Schulman, Sol, Ali, Sonia, Park, Soo-Mi, Davies, Sophie, Stock, Sophie, Ali, Souad, Deevi, Sri V. V., Gräf, Stefan, Ghio, Stefano, Wort, Stephen J., Jolles, Stephen, Austin, Steve, Welch, Steve, Meacham, Stuart, Rankin, Stuart, Walker, Suellen, Seneviratne, Suranjith, Holder, Susan, Sivapalaratnam, Suthesh, Richardson, Sylvia, Kuijpers, Taco, Kuijpers, Taco W., Bariana, Tadbir K., Bakchoul, Tamam, Everington, Tamara, Renton, Tara, Young, Tim, Aitman, Timothy, Warner, Timothy Q., Vale, Tom, Hammerton, Tracey, Pollock, Val, Matser, Vera, Cookson, Victoria, Clowes, Virginia, Qasim, Waseem, Wei, Wei, Erber, Wendy N., Ouwehand, Willem H., Astle, William, Egner, William, Turek, Wojciech, Henskens, Yvonne, Tan, Yvonne, and Lynch, Andy G.
Subjects: Multidisciplinary
Published: 2018

111. Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Author: Farmery, James H. R., Smith, Mike L., Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P., Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J., Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, Veld, Anna Huis In'T., Maw, Anna, Kelly, Anne M., Moore, Anthony, Vonk Noordegraaf, Anton, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C., Girerd, Barbara, Furie, Bruce, Treacy, Carmen M., Millar, Carolyn M., Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Geet, Chris Van, Babbs, Christian, Bryson, Christine, Penkett, Christopher J., Rhodes, Christopher J., Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, McJannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G., Gosal, David, Perry, David J., Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin K. S., Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, McDermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma, Oksenhendler, Eric, Turro, Ernest, Reid, Evan, Wassmer, Evangeline, Raymond, F. Lucy, Hu, Fengyuan, Kennedy, Fiona, Soubrier, Florent, Flinter, Frances, Kovacs, Gabor, Polwarth, Gary, Ambegaonkar, Gautum, Arno, Gavin, Hudson, Gavin, Woods, Geoff, Coghlan, Gerry, Hayman, Grant, Arumugakani, Gururaj, Schotte, Gwen, Cook, H. Terry, Alachkar, Hana, Lango Allen, Hana, Lango-Allen, Hana, Stark, Hannah, Stauss, Hans, Schulze, Harald, Boggard, Harm J., Baxendale, Helen, Dolling, Helen, Firth, Helen, Gall, Henning, Watson, Henry, Longhurst, Hilary, Markus, Hugh S., Watkins, Hugh, Simeoni, Ilenia, Emmerson, Ingrid, Roberts, Irene, Quinti, Isabella, Wanjiku, Ivy, Gibbs, J. Simon R., Thaventhiran, James, Whitworth, James, Hurst, Jane, Collins, Janine, Suntharalingam, Jay, Payne, Jeanette, Thachil, Jecko, Martin, Jennifer M., Carmichael, Jenny, Maimaris, Jesmeen, Paterson, Joan, Pepke-Zaba, Joanna, Heemskerk, Johan W. M., Gebhart, Johanna, Davis, John, Pasi, John, Bradley, John R., Wharton, John, Stephens, Jonathan, Rankin, Julia, Anderson, Julie, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Megy, Karyn, Talks, Kate, Peerlinck, Kathelijne, Yates, Katherine, Freson, Kathleen, Stirrups, Kathleen, Gomez, Keith, Smith, Kenneth G. C., Rue-Albrecht, Kevin, Gilmour, Kimberley, Masati, Larahmie, Scelsi, Laura, Southgate, Laura, Ranganathan, Lavanya, Ginsberg, Lionel, Devlin, Lisa, Willcocks, Lisa, Ormondroyd, Liz, Lorenzo, Lorena, Harper, Lorraine, Allen, Louise, Daugherty, Louise, Chitre, Manali, Kurian, Manju, Humbert, Marc, Tischkowitz, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Scully, Marie, Veltman, Marijke, Caulfield, Mark, Layton, Mark, McCarthy, Mark, Ponsford, Mark, Toshner, Mark, Bleda, Marta, Wilkins, Martin, Mathias, Mary, Reilly, Mary, Afzal, Maryam, Brown, Matthew, Rondina, Matthew, Stubbs, Matthew, Haimel, Matthias, Lees, Melissa, Laffan, Michael A., Browning, Michael, Gattens, Michael, Richards, Michael, Michaelides, Michel, Lambert, Michele P., Makris, Mike, de Vries, Minka, Mahdi-Rogers, Mohamed, Saleem, Moin, Thomas, Moira, Holder, Muriel, Eyries, M. lanie, Clements-Brod, Naomi, Canham, Natalie, Dormand, Natalie, Zuydam, Natalie Van, Kingston, Nathalie, Ghali, Neeti, Cooper, Nichola, Morrell, Nicholas W., Yeatman, Nigel, Roy, Noémi, Shamardina, Olga, Alavijeh, Omid S., Gresele, Paolo, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Yong, Patrick, Man, Patrick Yu Wai, Corris, Paul A., Calleja, Paul, Gissen, Paul, Bolton-Maggs, Paula, Rayner-Matthews, Paula, Ghataorhe, Pavandeep K., Gordins, Pavel, Stein, Penelope, Collins, Peter, Dixon, Peter, Kelleher, Peter, Ancliff, Phil, Yu, Ping, Tait, R. Campbell, Linger, Rachel, Doffinger, Rainer, Machado, Rajiv, Kazmi, Rashid, Sargur, Ravishankar, Favier, Remi, Tan, Rhea, Liesner, Ri, Antrobus, Richard, Sandford, Richard, Scott, Richard, Trembath, Richard, Horvath, Rita, Hadden, Rob, Mackenzieross, Rob V., Henderson, Robert, MacLaren, Robert, James, Roger, Ghurye, Rohit, Dacosta, Rosa, Hague, Rosie, Mapeta, Rutendo, Armstrong, Ruth, Noorani, Sadia, Murng, Sai, Santra, Saikat, Tuna, Salih, Johnson, Sally, Chong, Sam, Lear, Sara, Walker, Sara, Goddard, Sarah, Mangles, Sarah, Westbury, Sarah, Mehta, Sarju, Hackett, Scott, Nejentsev, Sergey, Moledina, Shahin, Bibi, Shahnaz, Meehan, Sharon, Othman, Shokri, Revel-Vilk, Shoshana, Holden, Simon, McGowan, Simon, Staines, Simon, Savic, Sinisa, Burns, Siobhan, Grigoriadou, Sofia, Papadia, Sofia, Ashford, Sofie, Schulman, Sol, Ali, Sonia, Park, Soo-Mi, Davies, Sophie, Stock, Sophie, Ali, Souad, Deevi, Sri V. V., Gräf, Stefan, Ghio, Stefano, Wort, Stephen J., Jolles, Stephen, Austin, Steve, Welch, Steve, Meacham, Stuart, Rankin, Stuart, Walker, Suellen, Seneviratne, Suranjith, Holder, Susan, Sivapalaratnam, Suthesh, Richardson, Sylvia, Kuijpers, Taco, Kuijpers, Taco W., Bariana, Tadbir K., Bakchoul, Tamam, Everington, Tamara, Renton, Tara, Young, Tim, Aitman, Timothy, Warner, Timothy Q., Vale, Tom, Hammerton, Tracey, Pollock, Val, Matser, Vera, Cookson, Victoria, Clowes, Virginia, Qasim, Waseem, Wei, Wei, Erber, Wendy N., Ouwehand, Willem H., Astle, William, Egner, William, Turek, Wojciech, Henskens, Yvonne, Tan, Yvonne, Lynch, Andy G., Other departments, ARD - Amsterdam Reproduction and Development, Paediatric Infectious Diseases / Rheumatology / Immunology, Peerlinck, Kathelijne, Freson, Kathleen, University of St Andrews. Statistics, University of St Andrews. School of Medicine, University of St Andrews. Population and Behavioural Science Division, University of St Andrews. Cellular Medicine Division, Rue-Albrecht, K, VU University medical center, ACS - Pulmonary hypertension & thrombosis, Pulmonary medicine, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Human genetics, ACS - Atherosclerosis & ischemic syndromes, Molecular cell biology and Immunology, Pediatric surgery, APH - Aging & Later Life, Lynch, Andy G [0000-0002-7876-7338], and Apollo - University of Cambridge Repository
Subjects: Telomerase, Carcinoma, Hepatocellular, Genotype, Science, QH301 Biology, Induced Pluripotent Stem Cells, Primary Cell Culture, Sequencing data, Gene Expression, Computational biology, Biology, Article, RC0254, 03 medical and health sciences, QH301, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Humans, 030304 developmental biology, Whole genome sequencing, 0303 health sciences, Ploidies, Multidisciplinary, Whole Genome Sequencing, Telomere biology, RC0254 Neoplasms. Tumors. Oncology (including Cancer), Liver Neoplasms, Telomere Homeostasis, Mesenchymal Stem Cells, DAS, Telomere, Publisher Correction, T Technology, Cancer data, 030220 oncology & carcinogenesis, Medicine, Ploidy, Algorithms
Abstract: Funding: Cancer Research UK Programme Grant to Simon Tavaré (C14303/A17197) (JHRF, AGL, MLS); European Commission through the Horizon 2020 project SOUND (Grant Agreement no. 633974) (AGL). Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights into telomere biology on a previously unimaginable scale. To this end, a number of approaches for estimating telomere length from whole-genome sequencing data have been proposed. Here we present Telomerecat, a novel approach to the estimation of telomere length. Previous methods have been dependent on the number of telomeres present in a cell being known, which may be problematic when analysing aneuploid cancer data and non-human samples. Telomerecat is designed to be agnostic to the number of telomeres present, making it suited for the purpose of estimating telomere length in cancer studies. Telomerecat also accounts for interstitial telomeric reads and presents a novel approach to dealing with sequencing errors. We show that Telomerecat performs well at telomere length estimation when compared to leading experimental and computational methods. Furthermore, we show that it detects expected patterns in longitudinal data, repeated measurements, and cross-species comparisons. We also apply the method to a cancer cell data, uncovering an interesting relationship with the underlying telomerase genotype. Publisher PDF
Published: 2018
Full Text: View/download PDF

112. Blackstone and his critics

Author: Stubbs, Matthew, primary
Published: 2019
Full Text: View/download PDF

113. The Novel Bromodomain and Extraterminal Domain Inhibitor INCB054329 Induces Vulnerabilities in Myeloma Cells That Inform Rational Combination Strategies

Author: Stubbs, Matthew C., primary, Burn, Timothy C., additional, Sparks, Richard, additional, Maduskuie, Thomas, additional, Diamond, Sharon, additional, Rupar, Mark, additional, Wen, Xiaoming, additional, Volgina, Alla, additional, Zolotarjova, Nina, additional, Waeltz, Paul, additional, Favata, Margaret, additional, Jalluri, Ravi, additional, Liu, Huiqing, additional, Liu, Xuesong Mike, additional, Li, Jun, additional, Collins, Robert, additional, Falahatpisheh, Nikoo, additional, Polam, Padmaja, additional, DiMatteo, Darlise, additional, Feldman, Patricia, additional, Dostalik, Valerie, additional, Thekkat, Pramod, additional, Gardiner, Christine, additional, He, Xin, additional, Li, Yanlong, additional, Covington, Maryanne, additional, Wynn, Richard, additional, Ruggeri, Bruce, additional, Yeleswaram, Swamy, additional, Xue, Chu-Biao, additional, Yao, Wenqing, additional, Combs, Andrew P., additional, Huber, Reid, additional, Hollis, Gregory, additional, Scherle, Peggy, additional, and Liu, Phillip C.C., additional
Published: 2019
Full Text: View/download PDF

114. TARGETING IN OUTER SPACE: AN EXPLORATION OF REGIME INTERACTIONS IN THE FINAL FRONTIER.

Author: GEORGESON, CAITLYN and STUBBS, MATTHEW
Subjects: UNLAWFUL combatants, SPACE debris, HUMANITARIAN law, HUMAN rights, LOW earth orbit satellites
Abstract: Space infrastructure is now integral to both civilian life and warfare. Belligerents may find great military advantage in destroying a satellite in orbit, but this could have grave consequences for civilians on earth and create long-lasting space debris. This Article identifies the applicable law by harmonizing international humanitarian law, human rights law, and international space law. The Authors conclude that targeting a satellite in armed conflict will be permissible only as a measure of last resort, not of first response. [ABSTRACT FROM AUTHOR]
Published: 2020

115. The BET Inhibitor INCB054329 Primes AML Cells for Venetoclax-Induced Apoptosis

Author: Ramsey, Haley, primary, Zhang, Susu, additional, Zhao, Yue, additional, Fischer, Melissa Ann, additional, Gorska, Agnieszka Ewa, additional, Arrate, Maria, additional, Fuller, Londa, additional, Greenwood, Dalton, additional, Stubbs, Matthew C., additional, Liu, Phillip, additional, Rathmell, Jeffrey C, additional, Hiebert, Scott, additional, and Savona, Michael R., additional
Published: 2018
Full Text: View/download PDF

116. Single Centre UK Comparison of Biosimilar Rituximab (Truxima) with the Originator (MabThera) in Patients with Immune Mediated Thrombotic Thrombocytopenic Purpura

Author: Stubbs, Matthew J., primary, Low, Ryan, additional, McGuckin, Siobhan, additional, Newton, Rosalind, additional, Westwood, John-Paul, additional, Thomas, Mari, additional, Cheesman, Simon, additional, and Scully, Marie, additional
Published: 2018
Full Text: View/download PDF

117. Administration of immunoglobulin G‐degrading enzyme of Streptococcus pyogenes (IdeS) for persistent anti‐ ADAMTS 13 antibodies in patients with thrombotic thrombocytopenic purpura in clinical remission

Author: Stubbs, Matthew J., primary, Thomas, Mari, additional, Vendramin, Chiara, additional, Sonesson, Elisabeth, additional, Kjellman, Christian, additional, Järnum, Sofia, additional, Stenberg, Yvonne, additional, Elfving, Charlotte, additional, and Scully, Marie, additional
Published: 2018
Full Text: View/download PDF

118. Abstract B04: The bromodomain inhibitor INCB054329 enhances olaparib response in ovarian cancer cells by reducing homologous recombination efficiency

Author: Wilson, Andrew J., primary, Stubbs, Matthew, additional, Liu, Phillip, additional, Ruggeri, Bruce, additional, and Khabele, Dineo, additional
Published: 2018
Full Text: View/download PDF

119. Abstract 2938: In vivo assessment of the combination of the JAK1 selective inhibitor itacitinib with first- and second-generation EGFR inhibitors in models of non-small cell lung cancer

Author: Stubbs, Matthew C., primary, Wen, Xiaoming, additional, Xue, Chu-Biao, additional, Huang, Taisheng, additional, Yao, Wenqing, additional, Metcalf, Brian, additional, Huber, Reid, additional, Scherle, Peggy, additional, and Ruggeri, Bruce, additional
Published: 2018
Full Text: View/download PDF

120. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Author: Ito, Yoko, primary, Carss, Keren J., additional, Duarte, Sofia T., additional, Hartley, Taila, additional, Keren, Boris, additional, Kurian, Manju A., additional, Marey, Isabelle, additional, Charles, Perinne, additional, Mendonça, Carla, additional, Nava, Caroline, additional, Pfundt, Rolph, additional, Sanchis-Juan, Alba, additional, van Bokhoven, Hans, additional, van Essen, Anthony, additional, van Ravenswaaij-Arts, Conny, additional, Boycott, Kym M., additional, Kernohan, Kristin D., additional, Dyack, Sarah, additional, Raymond, F. Lucy, additional, Aitman, Timothy, additional, Bennett, David, additional, Caulfield, Mark, additional, Chinnery, Patrick, additional, Gale, Daniel, additional, Koziell, Ania, additional, Kuijpers, Taco W., additional, Laffan, Michael A., additional, Maher, Eamonn, additional, Markus, Hugh S., additional, Morrell, Nicholas W., additional, Ouwehand, Willem H., additional, Perry, David J., additional, Roberts, Irene, additional, Smith, Kenneth G.C., additional, Thrasher, Adrian, additional, Watkins, Hugh, additional, Williamson, Catherine, additional, Woods, Geoffrey, additional, Ashford, Sofie, additional, Bradley, John R., additional, Fletcher, Debra, additional, Hammerton, Tracey, additional, James, Roger, additional, Kingston, Nathalie, additional, Penkett, Christopher J., additional, Stirrups, Kathleen, additional, Veltman, Marijke, additional, Young, Tim, additional, Brown, Matthew, additional, Clements-Brod, Naomi, additional, Davis, John, additional, Dewhurst, Eleanor, additional, Dolling, Helen, additional, Erwood, Marie, additional, Frary, Amy, additional, Linger, Rachel, additional, Martin, Jennifer M., additional, Papadia, Sofia, additional, Rehnstrom, Karola, additional, Stark, Hannah, additional, Allsup, David, additional, Austin, Steve, additional, Bakchoul, Tamam, additional, Bariana, Tadbir K., additional, Bolton-Maggs, Paula, additional, Chalmers, Elizabeth, additional, Collins, Janine, additional, Collins, Peter, additional, Erber, Wendy N., additional, Everington, Tamara, additional, Favier, Remi, additional, Freson, Kathleen, additional, Furie, Bruce, additional, Gattens, Michael, additional, Gebhart, Johanna, additional, Gomez, Keith, additional, Greene, Daniel, additional, Greinacher, Andreas, additional, Gresele, Paolo, additional, Hart, Daniel, additional, Heemskerk, Johan W.M., additional, Henskens, Yvonne, additional, Kazmi, Rashid, additional, Keeling, David, additional, Kelly, Anne M., additional, Lambert, Michele P., additional, Lentaigne, Claire, additional, Liesner, Ri, additional, Makris, Mike, additional, Mangles, Sarah, additional, Mathias, Mary, additional, Millar, Carolyn M., additional, Mumford, Andrew, additional, Nurden, Paquita, additional, Payne, Jeanette, additional, Pasi, John, additional, Peerlinck, Kathelijne, additional, Revel-Vilk, Shoshana, additional, Richards, Michael, additional, Rondina, Matthew, additional, Roughley, Catherine, additional, Schulman, Sol, additional, Schulze, Harald, additional, Scully, Marie, additional, Sivapalaratnam, Suthesh, additional, Stubbs, Matthew, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Thachil, Jecko, additional, Toh, Cheng-Hock, additional, Turro, Ernest, additional, Van Geet, Chris, additional, De Vries, Minka, additional, Warner, Timothy Q., additional, Watson, Henry, additional, Westbury, Sarah, additional, Furnell, Abigail, additional, Mapeta, Rutendo, additional, Rayner-Matthews, Paula, additional, Simeoni, Ilenia, additional, Staines, Simon, additional, Stephens, Jonathan, additional, Watt, Christopher, additional, Whitehorn, Deborah, additional, Attwood, Antony, additional, Daugherty, Louise, additional, Deevi, Sri V.V., additional, Halmagyi, Csaba, additional, Hu, Fengyuan, additional, Matser, Vera, additional, Meacham, Stuart, additional, Megy, Karyn, additional, Shamardina, Olga, additional, Titterton, Catherine, additional, Tuna, Salih, additional, Yu, Ping, additional, von Ziegenweldt, Julie, additional, Astle, William, additional, Bleda, Marta, additional, Gräf, Stefan, additional, Haimel, Matthias, additional, Lango-Allen, Hana, additional, Richardson, Sylvia, additional, Calleja, Paul, additional, Rankin, Stuart, additional, Turek, Wojciech, additional, Anderson, Julie, additional, Bryson, Christine, additional, Carmichael, Jenny, additional, McJannet, Coleen, additional, Stock, Sophie, additional, Allen, Louise, additional, Ambegaonkar, Gautum, additional, Armstrong, Ruth, additional, Arno, Gavin, additional, Bitner-Glindzicz, Maria, additional, Brady, Angie, additional, Canham, Natalie, additional, Chitre, Manali, additional, Clement, Emma, additional, Clowes, Virginia, additional, Deegan, Patrick, additional, Deshpande, Charu, additional, Doffinger, Rainer, additional, Firth, Helen, additional, Flinter, Frances, additional, French, Courtney, additional, Gardham, Alice, additional, Ghali, Neeti, additional, Gissen, Paul, additional, Grozeva, Detelina, additional, Henderson, Robert, additional, Hensiek, Anke, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hurst, Jane, additional, Josifova, Dragana, additional, Krishnakumar, Deepa, additional, Lees, Melissa, additional, MacLaren, Robert, additional, Maw, Anna, additional, Mehta, Sarju, additional, Michaelides, Michel, additional, Moore, Anthony, additional, Murphy, Elaine, additional, Park, Soo-Mi, additional, Parker, Alasdair, additional, Patch, Chris, additional, Paterson, Joan, additional, Rankin, Julia, additional, Reid, Evan, additional, Rosser, Elisabeth, additional, Sandford, Richard, additional, Santra, Saikat, additional, Scott, Richard, additional, Sohal, Aman, additional, Stein, Penelope, additional, Thomas, Ellen, additional, Thompson, Dorothy, additional, Tischkowitz, Marc, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wassmer, Evangeline, additional, Webster, Andrew, additional, Ali, Sonia, additional, Ali, Souad, additional, Boggard, Harm J., additional, Church, Colin, additional, Coghlan, Gerry, additional, Cookson, Victoria, additional, Corris, Paul A., additional, Creaser-Myers, Amanda, additional, DaCosta, Rosa, additional, Dormand, Natalie, additional, Eyries, Mélanie, additional, Gall, Henning, additional, Ghataorhe, Pavandeep K., additional, Ghio, Stefano, additional, Ghofrani, Ardi, additional, Gibbs, J. Simon R., additional, Girerd, Barbara, additional, Greenhalgh, Alan, additional, Hadinnapola, Charaka, additional, Houweling, Arjan C., additional, Humbert, Marc, additional, in’t Veld, Anna Huis, additional, Kennedy, Fiona, additional, Kiely, David G., additional, Kovacs, Gabor, additional, Lawrie, Allan, additional, Ross, Rob V. Mackenzie, additional, Machado, Rajiv, additional, Masati, Larahmie, additional, Meehan, Sharon, additional, Moledina, Shahin, additional, Montani, David, additional, Othman, Shokri, additional, Peacock, Andrew J., additional, Pepke-Zaba, Joanna, additional, Pollock, Val, additional, Polwarth, Gary, additional, Ranganathan, Lavanya, additional, Rhodes, Christopher J., additional, Rue-Albrecht, Kevin, additional, Schotte, Gwen, additional, Shipley, Debbie, additional, Soubrier, Florent, additional, Southgate, Laura, additional, Scelsi, Laura, additional, Suntharalingam, Jay, additional, Tan, Yvonne, additional, Toshner, Mark, additional, Treacy, Carmen M., additional, Trembath, Richard, additional, Vonk Noordegraaf, Anton, additional, Walker, Sara, additional, Wanjiku, Ivy, additional, Wharton, John, additional, Wilkins, Martin, additional, Wort, Stephen J., additional, Yates, Katherine, additional, Alachkar, Hana, additional, Antrobus, Richard, additional, Arumugakani, Gururaj, additional, Bacchelli, Chiara, additional, Baxendale, Helen, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Booth, Claire, additional, Browning, Michael, additional, Burns, Siobhan, additional, Chandra, Anita, additional, Cooper, Nichola, additional, Davies, Sophie, additional, Devlin, Lisa, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, Ghurye, Rohit, additional, Gilmour, Kimberley, additional, Goddard, Sarah, additional, Gordins, Pavel, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hague, Rosie, additional, Harper, Lorraine, additional, Hayman, Grant, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Jolles, Stephen, additional, Kelleher, Peter, additional, Kumararatne, Dinakantha, additional, Lear, Sara, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Maimaris, Jesmeen, additional, Manson, Ania, additional, McDermott, Elizabeth, additional, Murng, Sai, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Oksenhendler, Eric, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinti, Isabella, additional, Richter, Alex, additional, Samarghitean, Crina, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Seneviratne, Suranjith, additional, Sewell, Carrock, additional, Staples, Emily, additional, Stauss, Hans, additional, Thaventhiran, James, additional, Thomas, Moira, additional, Welch, Steve, additional, Willcocks, Lisa, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Ancliff, Phil, additional, Babbs, Christian, additional, Layton, Mark, additional, Louka, Eleni, additional, McGowan, Simon, additional, Mead, Adam, additional, Roy, Noémi, additional, Chambers, Jenny, additional, Dixon, Peter, additional, Estiu, Cecelia, additional, Hague, Bill, additional, Marschall, Hanns-Ulrich, additional, Simpson, Michael, additional, Chong, Sam, additional, Emmerson, Ingrid, additional, Ginsberg, Lionel, additional, Gosal, David, additional, Hadden, Rob, additional, Horvath, Rita, additional, Mahdi-Rogers, Mohamed, additional, Manzur, Adnan, additional, Marshall, Andrew, additional, Matthews, Emma, additional, McCarthy, Mark, additional, Reilly, Mary, additional, Renton, Tara, additional, Rice, Andrew, additional, Themistocleous, Andreas, additional, Vale, Tom, additional, Van Zuydam, Natalie, additional, Walker, Suellen, additional, Ormondroyd, Liz, additional, Hudson, Gavin, additional, Wei, Wei, additional, Yu Wai Man, Patrick, additional, Whitworth, James, additional, Afzal, Maryam, additional, Colby, Elizabeth, additional, Saleem, Moin, additional, Alavijeh, Omid S., additional, Cook, H. Terry, additional, Johnson, Sally, additional, Levine, Adam P., additional, Wong, Edwin K.S., additional, Tan, Rhea, additional, MacKenzie, Alex, additional, Majewski, Jacek, additional, Brudno, Michael, additional, Bulman, Dennis, additional, and Dyment, David, additional
Published: 2018
Full Text: View/download PDF

121. Transcriptional Repression from the c-myc P2 Promoter by the Zinc Finger Protein ZF87/MAZ

Author: Izzo, Marc W., Strachan, Gordon D., Stubbs, Matthew C., and Hall, David J.
Published: 1999
Full Text: View/download PDF

122. An Early S Phase Checkpoint Is Regulated by the E2F1 Transcription Factor

Author: Stubbs, Matthew C., Strachan, Gordon D., and Hall, David J.
Published: 1999
Full Text: View/download PDF

123. Social Justice Simulations: Social Justice Exercise Manual

Author: Banki, Susan, Stubbs, Matthew, Rice, Simon, Duffill, Paul, Hartley, Lisa K, McGaughey, Fiona, Kerdo, Peggy, Orchard, Phil, and Berg, Laurie
Published: 2016
Full Text: View/download PDF

124. Social Justice Simulations: Social Justice Case Studies

Author: Banki, Susan, Stubbs, Matthew, Rice, Simon, Hartley, Lisa K, McGaughey, Fiona, Kerdo, Peggy, Orchard, Phil, Berg, Laurie, and Duffill, Paul
Published: 2016
Full Text: View/download PDF

125. Redundant JAK, SRC and PI3 Kinase Signaling Pathways Regulate Cell Survival in Human Ph-like ALL Cell Lines and Primary Cells

Author: Hurtz, Christian, primary, Tasian, Sarah K, additional, Wertheim, Gerald, additional, Ruggeri, Bruce, additional, Stubbs, Matthew C., additional, Perl, Alexander E., additional, and Carroll, Martin, additional
Published: 2017
Full Text: View/download PDF

126. Murine Retrovirally‐Transduced Bone Marrow Engraftment Models of MLL‐Fusion‐Driven Acute Myelogenous Leukemias (AML)

Author: Stubbs, Matthew C., primary and Krivtsov, Andrei V., additional
Published: 2017
Full Text: View/download PDF

127. Abstract 5071: Preclinical characterization of the potent and selective BET inhibitor INCB057643 in models of hematologic malignancies

Author: Stubbs, Matthew C., primary, Maduskuie, Thomas, additional, Burn, Timothy, additional, Diamond-Fosbenner, Sharon, additional, Falahatpisheh, Nikoo, additional, Volgina, Alla, additional, Zolotarjova, Nina, additional, Wen, Xiaoming, additional, Feldman, Patricia, additional, Rupar, Mark, additional, Collins, Robert, additional, Marando, Cindy, additional, Ruggeri, Bruce, additional, Covington, Maryanne, additional, Liu, Xuesong Mike, additional, Wynn, Richard, additional, Yeleswaram, Swamy, additional, Yao, Wenqing, additional, Huber, Reid, additional, Hollis, Gregory, additional, Scherle, Peggy, additional, Combs, Andrew P., additional, and Liu, Phillip C., additional
Published: 2017
Full Text: View/download PDF

128. Abstract 1234: The novel FGFR4-selective inhibitor INCB062079 is efficacious in models of hepatocellular carcinoma harboring FGF19 amplification

Author: Ruggeri, Bruce, primary, Stubbs, Matthew, additional, Yang, Yan-ou, additional, Juvekar, Ashish, additional, Lu, Liang, additional, Condon, Sindy, additional, DiMatteo, Darlise, additional, Wen, Xiaoming, additional, Collier, Paul, additional, Burn, Timothy, additional, Wu, Liangxing, additional, Wilson, Daniel, additional, Yeleswaram, Swamy, additional, Roberts, Alan, additional, Yao, Wenqing, additional, Hollis, Gregory, additional, Huber, Reid, additional, Scherle, Peggy, additional, and Liu, Phillip CC, additional
Published: 2017
Full Text: View/download PDF

129. Abstract 1518: Mechanisms of bromodomain and extra-terminal motif inhibitor (BETi) sensitivity in triple-negative breast cancer (TNBC)

Author: Schafer, Johanna, primary, Lehmann, Brian, additional, Liu, Phillip, additional, Stubbs, Matthew, additional, Scherle, Peggy, additional, and Pietenpol, Jennifer, additional
Published: 2017
Full Text: View/download PDF

130. Abstract 2100: Selective inhibition of FGFR4 by INCB062079 is efficacious in models of FGF19- and FGFR4-dependent cancers

Author: Liu, Phillip C.C., primary, Lu, Liang, additional, Bowman, Kevin, additional, Stubbs, Matthew C., additional, Wu, Liangxing, additional, DiMatteo, Darlise, additional, Condon, Sindy, additional, Klabe, Ronald, additional, Qian, Ding-Quan, additional, Wen, Xiaoming, additional, Collier, Paul, additional, Gallagher, Karen, additional, Hansbury, Michael, additional, He, Xin, additional, Ruggeri, Bruce, additional, Yang, Yan-ou, additional, Covington, Maryanne, additional, Burn, Timothy C., additional, Diamond-Fosbenner, Sharon, additional, Wynn, Richard, additional, Huber, Reid, additional, Yao, Wenqing, additional, Yeleswaram, Swamy, additional, Scherle, Peggy, additional, and Hollis, Gregory, additional
Published: 2017
Full Text: View/download PDF

131. Abstract 2032: Combination of epigenetic regulation via LSD1 inhibition with signal transduction inhibitors significantly enhances anti-tumor activity in models of hematologic malignancies

Author: Lee, Sang Hyun, primary, Stubbs, Matthew, additional, Juvekar, Ashish, additional, Diamond, Melody, additional, Chadderton, Antony, additional, Collins, Robert, additional, Wen, Xiaoming, additional, Koblish, Holly, additional, He, Chunhong, additional, Wu, Liangxing, additional, Wynn, Richard, additional, Combs, Andrew, additional, Xue, Chu-Biao, additional, Yao, Wenqing, additional, Hollis, Gregory, additional, Huber, Reid, additional, Scherle, Peggy, additional, and Ruggeri, Bruce, additional
Published: 2017
Full Text: View/download PDF

132. Abstract 3726: INCB52793 JAK1 inhibitor synergizes with ATRA to inhibit expansion of AML

Author: Ramsey, Haley E., primary, Ferrell, P. Brent, additional, Fischer, Melissa A., additional, Gorska, Agnieszka E., additional, Maier, Caroline, additional, Norris, Jeremy, additional, Farrow, Melissa, additional, Guiterrez, Danielle, additional, Pino, James, additional, Zinkel, Sandra, additional, Lopez, Carlos, additional, Koblish, Holly, additional, Stubbs, Matthew, additional, Scherle, Peggy, additional, Irish, Jonathan M., additional, Caprioli, Richard, additional, and Savona, Michael R., additional
Published: 2017
Full Text: View/download PDF

133. Abstract 143: Preclinical studies on potential therapeutic combination partners for the potent and selective PI3Kδ inhibitor INCB050465 in DLBCL

Author: Stubbs, Matthew C., primary, Collins, Robert, additional, Hall, Leslie, additional, Volgina, Alla, additional, Koblish, Holly, additional, Lee, Sang Hyun, additional, Burn, Timothy, additional, Liu, Phillip C., additional, Lu, Jin, additional, Yue, Eddy, additional, Li, Yun-Long, additional, Combs, Andrew P., additional, Yao, Wenqing, additional, Hollis, Gregory, additional, Huber, Reid, additional, Ruggeri, Bruce, additional, and Scherle, Peggy, additional
Published: 2017
Full Text: View/download PDF

134. Dredge Your Way to China?

Author: Stubbs, Matthew, primary and Stephens, Dale, additional
Published: 2017
Full Text: View/download PDF

135. Parsaclisib Is a Next-Generation Phosphoinositide 3-Kinase δInhibitor with Reduced Hepatotoxicity and Potent Antitumor and Immunomodulatory Activities in Models of B-Cell Malignancy▪

Author: Shin, Niu, Stubbs, Matthew, Koblish, Holly, Yue, Eddy W., Soloviev, Maxim, Douty, Brent, Wang, Kathy He, Wang, Qian, Gao, Mingming, Feldman, Patricia, Yang, Gengjie, Hall, Leslie, Hansbury, Michael, O’Connor, Sybil, Leffet, Lynn, Collins, Robert, Katiyar, Kamna, He, Xin, Waeltz, Paul, Collier, Paul, Lu, Jin, Li, Yun-Long, Li, Yanlong, Liu, Phillip C.C., Burn, Timothy, Covington, Maryanne, Diamond, Sharon, Shuey, Dana, Roberts, Alan, Yeleswaram, Swamy, Hollis, Greg, Metcalf, Brian, Yao, Wenqing, Huber, Reid, Combs, Andrew, Newton, Robert, and Scherle, Peggy
Abstract: The clinical use of first-generation phosphoinositide 3-kinase (PI3K)δinhibitors in B-cell malignancies is hampered by hepatotoxicity, requiring dose reduction, treatment interruption, and/or discontinuation of therapy. In addition, potential molecular mechanisms by which resistance to this class of drugs occurs have not been investigated. Parsaclisib (INCB050465) is a potent and selective next-generation PI3Kδinhibitor that differs in structure from first-generation PI3Kδinhibitors and has shown encouraging anti–B-cell tumor activity and reduced hepatotoxicity in phase 1/2 clinical studies. Here, we present preclinical data demonstrating parsaclisib as a potent inhibitor of PI3Kδwith over 1000-fold selectivity against other class 1 PI3K isozymes. Parsaclisib directly blocks PI3K signaling–mediated cell proliferation in B-cell lines in vitro and in vivo and indirectly controls tumor growth by lessening immunosuppression through regulatory T-cell inhibition in a syngeneic lymphoma model. Diffuse large B-cell lymphoma cell lines overexpressing MYC were insensitive to proliferation blockade via PI3Kδsignaling inhibition by parsaclisib, but their proliferative activities were reduced by suppression of MYCgene transcription. Molecular structure analysis of the first- and next-generation PI3Kδinhibitors combined with clinical observation suggests that hepatotoxicity seen with the first-generation inhibitors could result from a structure-related off-target effect. Parsaclisib is currently being evaluated in multiple phase 2 clinical trials as a therapy against various hematologic malignancies of B-cell origin (NCT03126019, NCT02998476, NCT03235544, NCT03144674, and NCT02018861).
Published: 2020
Full Text: View/download PDF

136. Administration of immunoglobulin G‐degrading enzyme of Streptococcus pyogenes (IdeS) for persistent anti‐ADAMTS13 antibodies in patients with thrombotic thrombocytopenic purpura in clinical remission.

Author: Stubbs, Matthew J., Thomas, Mari, Vendramin, Chiara, Sonesson, Elisabeth, Kjellman, Christian, Järnum, Sofia, Stenberg, Yvonne, Elfving, Charlotte, and Scully, Marie
Subjects: *THROMBOTIC thrombocytopenic purpura, *STREPTOCOCCUS pyogenes, *IMMUNOGLOBULINS, *RITUXIMAB, *ENZYMES
Abstract: The article offers information on the role of immunoglobulin G-degrading enzyme of Streptococcus pyogenes (IdeS) for persistent anti-ADAMTS13 antibodies. Topics discussed In immune Thrombotic thrombocytopenic purpura (iTTP) is severe deficiency of ADAMTS13, highlights the treatment modalities like plasma exchange, steroids and rituximab; and mentions the suggestions regarding treatment for ADAMTS13 with plasma exchange acute TTP.
Published: 2019
Full Text: View/download PDF

137. PROFESSOR IVAN SHEARER AM RFD FAAL RAN (RTD) 1938 - 2019.

Author: Stephens, Dale, Stubbs, Matthew, Crawford, James, LaForgia, Rebecca, Wall, Andru E., Sands, Philippe, Wolfrum, Rüdiger, Lücke, Horst Klaus, O'Brien, Roderick, and Stephens, Tim
Subjects: LAW school deans
Published: 2019

138. Trade and commerce (Chapter 16) / Professor Jack Richardson AO ; edited by Matthew Stubbs.

Author: Richardson, Jack, Stubbs, Matthew, Richardson, Jack, and Stubbs, Matthew
Published: 2016

139. Abstract 4702: Combination of BET inhibitor INCB054329 and LSD1 inhibitor INCB059872 is synergistic for the treatment of AML in vitro and in vivo

Author: Liu, Xuesong, primary, Stubbs, Matthew, additional, Ye, Min, additional, Collins, Roberts, additional, Favata, Margaret, additional, Yang, Gengjie, additional, Diamond, Melody, additional, Dostalik, Valerie, additional, Lo, Yvonne, additional, He, Chunhong, additional, Wu, Liangxing, additional, Combs, Andrew, additional, Yao, Wenqing, additional, Hollis, Gregory, additional, Huber, Reid, additional, Scherle, Peggy, additional, Ruggeri, Bruce, additional, Liu, Phillip, additional, and Lee, Sang Hyun, additional
Published: 2016
Full Text: View/download PDF

140. Abstract 4712: Discovery of INCB059872, a novel FAD-directed LSD1 inhibitor that is effective in preclinical models of human and murine AML

Author: Lee, Sang Hyun, primary, Stubbs, Matthew, additional, Liu, Xuesong Mike, additional, Diamond, Melody, additional, Dostalik, Valerie, additional, Ye, Min, additional, Lo, Yvonne, additional, Favata, Margaret, additional, Yang, Gengjie, additional, Gallagher, Karen, additional, Leffet, Lynn, additional, He, Chunhong, additional, Wu, Liangxing, additional, Margulis, Alexander, additional, Covington, Maryanne, additional, Wynn, Richard, additional, Yao, Wenqing, additional, Hollis, Gregory, additional, Huber, Reid, additional, Ruggeri, Bruce, additional, and Scherle, Peggy, additional
Published: 2016
Full Text: View/download PDF

141. Abstract 3780: Activity of the BET inhibitor INCB054329 in models of lymphoma

Author: Stubbs, Matthew, primary, Collins, Robert, additional, Volgina, Alla, additional, Liu, Mike, additional, Favata, Margaret, additional, Rupar, Mark, additional, Wen, Xiaomng, additional, Sparks, Richard, additional, Maduskuie, Thomas, additional, Covington, Maryanne, additional, Burn, Timothy, additional, Ruggeri, Bruce, additional, Combs, Andrew P., additional, Yao, Wenqing, additional, Huber, Reid, additional, Hollis, Gregory, additional, Scherle, Peggy, additional, and Liu., Phillip CC, additional
Published: 2016
Full Text: View/download PDF

142. Abstract 4904: The BET inhibitor INCB054329 enhances the activity of checkpoint modulation in syngeneic tumor models

Author: Koblish, Holly K., primary, Hansbury, Michael, additional, Hall, Leslie, additional, Wang, Liang-Chuan, additional, Zhang, Yue, additional, Covington, Maryanne, additional, Burn, Timothy, additional, Rupar, Mark, additional, Gardiner, Christine, additional, Condamine, Thomas, additional, Lasky, Kerri, additional, Stubbs, Matthew C., additional, Yue, Eddy, additional, Sparks, Richard, additional, Maduskuie, Thomas, additional, Combs, Andrew P., additional, Hollis, Gregory, additional, Huber, Reid, additional, Liu, Phillip CC, additional, and Scherle, Peggy, additional
Published: 2016
Full Text: View/download PDF

143. Book Reviews

Author: Stubbs, Matthew, primary, Harris, Hannah, additional, Anthony, Dorothea, additional, Gelber, Katharine, additional, and Levett, Simon, additional
Published: 2016
Full Text: View/download PDF

144. THE ADELAIDE LAW REVIEW AT (VOLUME) 40: REFLECTIONS AND FUTURE DIRECTIONS.

Author: Stubbs, Matthew
Subjects: LAW reviews, LEGAL literature, LAW periodicals
Published: 2019

145. The BET inhibitor INCB054329 reduces homologous recombination efficiency and augments PARP inhibitor activity in ovarian cancer.

Author: Wilson, Andrew J., Stubbs, Matthew, Liu, Phillip, Ruggeri, Bruce, and Khabele, Dineo
Subjects: *OVARIAN cancer, *ADENOSINE diphosphate ribose, *DNA damage, *APOPTOSIS, *CANCER cell proliferation
Abstract: Objective Homologous recombination (HR)-proficient ovarian tumors have poorer clinical outcomes and show resistance to poly ADP ribose polymerase inhibitors (PARPi). A subset of HR-proficient ovarian tumors show amplification in bromodomain and extra-terminal (BET) genes such as BRD4 . We aimed to test the hypothesis that BRD4 inhibition sensitizes ovarian cancer cells to PARPi by reducing HR efficiency and increasing DNA damage. Methods HR-proficient ovarian cancer cell lines (OVCAR-3, OVCAR-4, SKOV-3, UWB1.289 + BRCA1) were treated with BRD4-targeting siRNA, novel (INB054329, INCB057643) and established (JQ1) BET inhibitors (BETi) and PARPi (olaparib, rucaparib). Cell growth and viability were assessed by sulforhodamine B assays in vitro, and in SKOV-3 and ovarian cancer patient-derived xenografts in vivo. DNA damage and repair (pH2AX, RAD51 and BRCA1 foci formation, and DRGFP HR reporter activity), apoptosis markers (cleaved PARP, cleaved caspase-3, Bax) and proliferation markers (PCNA, Ki67) were assessed by immunofluorescence and western blot. Results In cultured cells, inhibition of BRD4 by siRNA or INCB054329 reduced expression and function of BRCA1 and RAD51, reduced HR reporter activity, and sensitized the cells to olaparib-induced growth inhibition, DNA damage induction and apoptosis. Synergy was observed between all BETi tested and PARPi. INCB054329 and olaparib also co-operatively inhibited xenograft tumor growth, accompanied by reduced BRCA1 expression and proliferation, and increased apoptosis and DNA damage. Conclusions These results provide strong rationale for using BETi to extend therapeutic efficacy of PARPi to HR-proficient ovarian tumors and could benefit a substantial number of women diagnosed with this devastating disease. [ABSTRACT FROM AUTHOR]
Published: 2018
Full Text: View/download PDF

146. Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Author: Lentaigne, Claire, Greene, Daniel, Sivapalaratnam, Suthesh, Favier, Remi, Seyres, Denis, Thys, Chantal, Grassi, Luigi, Mangles, Sarah, Sibson, Keith, Stubbs, Matthew, Burden, Frances, Bordet, Jean-Claude, Armari-Alla, Corinne, Erber, Wendy, Farrow, Samantha, Gleadall, Nicholas, Gomez, Keith, Megy, Karyn, Papadia, Sofia, Penkett, Christopher J., Sims, Matthew C., Stefanucci, Luca, Stephens, Jonathan C., Read, Randy J., Stirrups, Kathleen E., Ouwehand, Willem H., Laffan, Michael A., Frontini, Mattia, Freson, Kathleen, and Turro, Ernest
Abstract: To identify novel causes of hereditary thrombocytopenia, we performed a genetic association analysis of whole-genome sequencing data from 13?037 individuals enrolled in the National Institute for Health Research (NIHR) BioResource, including 233 cases with isolated thrombocytopenia. We found an association between rare variants in the transcription factor-encoding gene IKZF5 and thrombocytopenia. We report 5 causal missense variants in or near IKZF5 zinc fingers, of which 2 occurred de novo and 3 co-segregated in 3 pedigrees. A canonical DNA-zinc finger binding model predicts that 3 of the variants alter DNA recognition. Expression studies showed that chromatin binding was disrupted in mutant compared with wild-type IKZF5, and electron microscopy revealed a reduced quantity of a granules in normally sized platelets. Proplatelet formation was reduced in megakaryocytes from 7 cases relative to 6 controls. Comparison of RNA-sequencing data from platelets, monocytes, neutrophils, and CD4+ T cells from 3 cases and 14 healthy controls showed 1194 differentially expressed genes in platelets but only 4 differentially expressed genes in each of the other blood cell types. In conclusion, IKZF5 is a novel transcriptional regulator of megakaryopoiesis and the eighth transcription factor associated with dominant thrombocytopenia in humans.
Published: 2019
Full Text: View/download PDF

147. The pan-PIM inhibitor INCB053914 displays potent synergy in combination with ruxolitinib in models of MPN

Author: Mazzacurati, Lucia, Collins, Robert J., Pandey, Garima, Lambert-Showers, Que T., Amin, Narmin E., Zhang, Ling, Stubbs, Matthew C., Epling-Burnette, Pearlie K., Koblish, Holly K., and Reuther, Gary W.
Abstract: Aberrant JAK2 tyrosine kinase signaling drives the development of Philadelphia chromosome–negative myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis. However, JAK2 kinase inhibitors have failed to significantly reduce allele burden in MPN patients, underscoring the need for improved therapeutic strategies. Members of the PIM family of serine/threonine kinases promote cellular proliferation by regulating a variety of cellular processes, including protein synthesis and the balance of signaling that regulates apoptosis. Overexpression of PIM family members is oncogenic, exemplified by their ability to induce lymphomas in collaboration with c-Myc. Thus, PIM kinases are potential therapeutic targets for several malignancies such as solid tumors and blood cancers. We and others have shown that PIM inhibitors augment the efficacy of JAK2 inhibitors by using in vitro models of MPNs. Here we report that the recently developed pan-PIM inhibitor INCB053914 augments the efficacy of the US Food and Drug Administration–approved JAK1/2 inhibitor ruxolitinib in both in vitro and in vivo MPN models. INCB053914 synergizes with ruxolitinib to inhibit cell growth in JAK2-driven MPN models and induce apoptosis. Significantly, low nanomolar INCB053914 enhances the efficacy of ruxolitinib to inhibit the neoplastic growth of primary MPN patient cells, and INCB053914 antagonizes ruxolitinib persistent myeloproliferation in vivo. These findings support the notion that INCB053914, which is currently in clinical trials in patients with advanced hematologic malignancies, in combination with ruxolitinib may be effective in MPN patients, and they support the clinical testing of this combination in MPN patients.
Published: 2019
Full Text: View/download PDF

148. Disclosure, Not Disqualification: A Democratic Proposal to Promote the Fidelity of Elected Representatives to the People.

Author: Stubbs, Matthew and Webster, Adam
Subjects: ELIGIBILITY (Social aspects), LOYALTY, CONFLICT of interests, PUBLIC law, COMMON law, FINANCIAL disclosure
Abstract: What is the appropriate role for public law in promoting the fidelity of elected representatives to the people? We examine the qualification (and disqualification) of representatives in five common law jurisdictions: Australia, Canada, New Zealand, the United Kingdom, and the United States. We identify requirements seeking to ensure integrity and competency, and avoid conflicts of interest. We argue all are undemocratic, because courts do not need to intervene where electors could make their own judgements as to the suitability of their representatives. To facilitate informed electoral - not judicial - choices, we propose a regime of compulsory public disclosure by candidates. [ABSTRACT FROM AUTHOR]
Published: 2019

149. The Adaptation Of Ideas In Urban Development - Case Study: Expo 2010, Shanghai, P.R. China

Author: Skogstad-Stubbs, Matthew
Subjects: Urban Growth, Competition, Ideational Adaptation, Adaptation of Ideas, Expo, Shanghai, Economic Competitiveness, Pudong New Area, Political Economy, Best Practice, Global City Formation, Expo 2010, Urban Development, Urban Best Practice, International Community, Global Cit
Abstract: This thesis begins with the hypothesis that the role of ideas in urban and global development is understudied and understated in comparison to studies that privilege economic and political analyses. The thesis generates two related models that seek to provide a comprehensive means of analyzing both the political economic constraints of development as well as the ideational limits that are overlooked by conventional models. The political economic model adapts constructivist principles to explain the structural limits on urban development that emerge from the contemporary global political economy. The second model draws on previous work done in the field of policy diffusion to posit four relational ways in which ideas are adapted and localized. The thesis argues that political economy analyses provide a comprehensive but mostly macro-level analysis and often fail to adequately understand individual thinking outside of the rational actor model. The ideational adaptation model corrects for this, providing a detailed micro-level analysis that is founded on the political economic framework. Together, the two models provide a comprehensive understanding of the ideational limits and political economic constraints at work in any given development scenario. In order to demonstrate the utility of the combined models (termed combined conceptual approach), the thesis applies the models to four different applications. Three examples are historical secondary source examples (educational philosophy, international business councils, and water sanitation) related to the history of Shanghai and China, and the impact of foreigners on their development vision, strategies, and practice. One application is a case study of Shanghai’s Expo 2010, which uses original data established through high-level interviews with Expo participants. The use of the combined conceptual approach shows how the interpersonal and inter-institutional adaptation and localization of ideas affect the way we understand the concept of legitimate best practice in urban development. The combined conceptual approach highlights the role that human thought, emotions, and psychology play in urban development. It links political economic activity to constructed bonds of trust, learning, the mentality of competition, and soft forms of coercive power (hegemonic ideas, leadership, and conditionality). Finally, the most important contribution of the combined conceptual approach is that it allows for an analysis of both the macro- and micro-levels of development in a relational and holistic fashion.
Published: 2011
Full Text: View/download PDF

150. Abstract 3525: The BET inhibitor INCB054329 is efficacious as a single agent or in combination with targeted agents in colorectal cancer models

Author: Liu, Xuesong, primary, Li, Jun, additional, He, Xin, additional, Stubbs, Matthew, additional, Favata, Margaret, additional, Wen, Xiaoming, additional, Chang, Hong, additional, Rumberger, Beth R., additional, Li, Yanlong, additional, Maduskuie, Thomas, additional, Sparks, Richard, additional, Falahatpisheh, Nikoo, additional, Polam, Padmaja, additional, Combs, Andrew P., additional, Huber, Reid, additional, Hollis, Gregory, additional, Scherle, Peggy, additional, and Liu, Phillip C., additional
Published: 2015
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Region

Database

Publisher

425 results on '"Stubbs, Matthew"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources