Zobrazeno 1 - 10
of 12
pro vyhledávání: '"James Poulter"'
Autor:
Adam Al-Hakim, Alyssa Cull, Joanna Topping, Fatima Nadat, Joanna Milek, Razan Alhefzi, Michael F. McDermott, Roger Owen, Catherine Cargo, James Poulter, David G. Kent, Sinisa Savic, on behalf of the ImmunAID consortium
Publikováno v:
HemaSphere, Vol 7, Iss 8, p e934 (2023)
Externí odkaz:
https://doaj.org/article/d91f072a395a4835b1c491213ce371f7
Autor:
Georgette Tanner, Rhiannon Barrow, Martina Finetti, Shoaib Ajaib, Nazia Ahmed, Steven Pollock, Nora Rippaus, Alexander F. Bruns, Khaja Syed, James Poulter, Erica Wilson, Colin Johnson, Frederick S. Varn, Anke Brüning-Richardson, Catherine Hogg, Alastair Droop, Arief Gusnanto, Matthew A. Care, Luisa Cutillo, David Westhead, Susan C. Short, Michael D. Jenkinson, Andrew Brodbelt, Aruna Chakrabarty, Azzam Ismail, Roel GW Verhaak, Lucy F. Stead
Glioblastoma (GBM) brain tumours lackingIDH1mutations (IDHwt) have the worst prognosis of all brain neoplasms. Patients receive surgery and chemoradiotherapy but tumours almost always fatally recur. Using RNAseq data from 107 pairs of pre- and post-s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3974987cc1bd108afe32b74c23969c12
https://doi.org/10.1101/2023.02.03.526945
https://doi.org/10.1101/2023.02.03.526945
Autor:
Ian Carr, Christopher Watson, Morag Raynor, Marilena Elpidorou, Ummey Hany, Laura Crinnon, Eamonn Sheridan, Alexander Markham, James Poulter, David Bonthron
Rare autosomal recessive diseases are a major cause of mortality and morbidity. They occur more frequently in individuals with consanguineous parents, in which case the pathogenic variants are often located within regions of genetic identity by desce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc62664ac7aa7f7c91376e996c9596cd
https://doi.org/10.22541/au.165933904.43435894/v1
https://doi.org/10.22541/au.165933904.43435894/v1
Primary ciliopathies are a group of inherited developmental disorders resulting from defects in the primary cilium. Mutations in CEP290 (Centrosomal protein of 290kDa) are the most frequent cause of recessive ciliopathies (incidence up to 1:15,000).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4542ffeca484be7a3c186834e9d7b5b6
https://doi.org/10.1101/2022.03.03.22271834
https://doi.org/10.1101/2022.03.03.22271834
Publikováno v:
Journal of clinical immunology. 42(5)
Autor:
Sunayna Best, Jenny Lord, Matthew Roche, Christopher Watson, James Poulter, Katarzyna Szymanska, Jamie Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin Johnson, Gabrielle Wheway
Publikováno v:
Acta Ophthalmologica. 100
Somatic mutations in the gene encoding the major E1 ubiquitin ligase, UBA1, were recently identified as a cause of VEXAS, a late-onset acquired auto-inflammatory syndrome. Differential diagnoses for patients subsequently found to have VEXAS include r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bfe18ceefce6d171b44c20990287fcaf
https://doi.org/10.1101/2021.12.08.21266919
https://doi.org/10.1101/2021.12.08.21266919
Autor:
James Poulter
Publikováno v:
Human Mutation. 42
Autor:
Gavin Arno, Keren J. Carss, Sarah Hull, Ceniz Zihni, Anthony G. Robson, Alessia Fiorentino, Alison J. Hardcastle, Graham E. Holder, Michael E. Cheetham, Vincent Plagnol, Anthony T. Moore, F. Lucy Raymond, Karl Matter, Maria S. Balda, Andrew R. Webster, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Forbes Manson, Panagiotis Sergouniotis, Chris Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James Poulter, Kamron Khan, Emma Lord, Andrea Nemeth, Susan Downes, Stephanie Halford, Jing Yu, Stefano Lise, Nikos Ponitkos, Michel Michaelides, Veronica van Heyningen, Timothy Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Ruth Armstrong, Gururaj Arumugakani, Sofie Ashford, William Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner-Glindzicz, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Natalie Canham, Jenny Carmichael, Keren Carss, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, Virginia Clowes, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise Daugherty, Sophie Davies, John Davis, Minka De Vries, Patrick Deegan, Sri V.V. Deevi, Charu Deshpande, Lisa Devlin, Eleanor Dewhurst, Rainer Doffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Remi Favier, Helen Firth, Debra Fletcher, Frances Flinter, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel Gale, Alice Gardham, Michael Gattens, Neeti Ghali, Pavandeep K. Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour, Paul Gissen, Sarah Goddard, Keith Gomez, Pavel Gordins, Stefan Gräf, Daniel Greene, Alan Greenhalgh, Andreas Greinacher, Sofia Grigoriadou, Detelina Grozeva, Scott Hackett, Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, Grant Hayman, Johan W.M. Heemskerk, Robert Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Simon Holden, Muriel Holder, Susan Holder, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Jane Hurst, Roger James, Stephen Jolles, Dragana Josifova, Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Fiona Kennedy, David Kiely, Nathalie Kingston, Ania Koziell, Deepa Krishnakumar, Taco W. Kuijpers, Dinakantha Kumararatne, Manju Kurian, Michael A. Laffan, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, Sara Lear, Melissa Lees, Claire Lentaigne, Ri Liesner, Rachel Linger, Hilary Longhurst, Lorena Lorenzo, Rajiv Machado, Rob Mackenzie, Robert MacLaren, Eamonn Maher, Jesmeen Maimaris, Sarah Mangles, Ania Manson, Rutendo Mapeta, Hugh S. Markus, Jennifer Martin, Larahmie Masati, Mary Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Megy, Sarju Mehta, Carolyn M. Millar, Shahin Moledina, Anthony Moore, Nicholas Morrell, Andrew Mumford, Sai Murng, Elaine Murphy, Sergey Nejentsev, Sadia Noorani, Paquita Nurden, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Soo-Mi Park, Alasdair Parker, John Pasi, Chris Patch, Joan Paterson, Jeanette Payne, Andrew Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke-Zaba, David J. Perry, Val Pollock, Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Julia Rankin, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew Rondina, Elisabeth Rosser, Catherine Roughley, Kevin Rue-Albrecht, Crina Samarghitean, Alba Sanchis-Juan, Richard Sandford, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Richard Scott, Marie Scully, Suranjith Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth Smith, Aman Sohal, Laura Southgate, Simon Staines, Emily Staples, Hans Stauss, Penelope Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson, Adrian Thrasher, Marc Tischkowitz, Catherine Titterton, Cheng-Hock Toh, Mark Toshner, Carmen Treacy, Richard Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie Vogt, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Emma Wakeling, Ivy Wanjiku, Timothy Q. Warner, Evangeline Wassmer, Hugh Watkins, Andrew Webster, Steve Welch, Sarah Westbury, John Wharton, Deborah Whitehorn, Martin Wilkins, Lisa Willcocks, Catherine Williamson, Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu
Publikováno v:
UK Inherited Retinal Disease Consortium, NIHR BioResource Rare Diseases Consortium, NIHR BioResource Rare Diseases Consortium & NIHR Bioresource – Rare Diseases Consortium 2017, ' Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration ', American journal of human genetics, vol. 100, no. 2, pp. 334-342 . https://doi.org/10.1016/j.ajhg.2016.12.014
American journal of human genetics, vol 100, iss 2
American journal of human genetics, 100(2), 334-342. Cell Press
American Journal of Human Genetics, 100(2), 334-342. Cell Press
American journal of human genetics, vol 100, iss 2
American journal of human genetics, 100(2), 334-342. Cell Press
American Journal of Human Genetics, 100(2), 334-342. Cell Press
Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further gen
Autor:
Andrew Mumford, Carmel Toomes, David Bennett, Mark Toshner, Alessia Fiorentino, Michael Cheetham, Anton Vonk noordegraaf, David Allsup, Nikolas Pontikos, Matthew A Brown, Mohammed Elasrag, Michel Michaelides, Roger James, Claire Booth, Dorothy Thompson, Keren Carss, James Poulter, Daniel Gale, Sinisa Savic, Graeme Black, WASEEM QASIM, Johan Heemskerk, Allan Lawrie, Saghar Bagheri, MD, PhD
Publikováno v:
NIHR BioResource-Rare Diseases & Uk Inherited Retinal Disease Consortium 2017, ' Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy ', Investigative Ophthalmology and Visual Science, vol. 58, no. 7, pp. 2906-2914 . https://doi.org/10.1167/iovs.16-20608
PURPOSE. Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 p