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Immunological bases of increased susceptibility to invasive nontyphoidal Salmonella infection in children with malaria and anaemia.
Malaria and anaemia are key underlying factors for iNTS disease in African children. Knowledge of clinical and epidemiological risk-factors for iNTS disease has not been paralleled by an in-depth knowledge of the immunobiology...
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
Ravi Savarirayan, Svein Fredwall, Penny Ireland, Melita D. Irving, Dominic Thompson, Inês Alves, Wagner A.R. Baratela, James Betts
Mar 31, 2022
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function...
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
Ravi Savarirayan, Svein Fredwall, Penny Ireland, Melita D. Irving, Dominic Thompson, Inês Alves, Wagner A.R. Baratela, James Betts
Mar 31, 2022
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function...
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.
Alexia Kagiava, Christos Karaiskos, Jan Richter, Christina Tryfonos, Matthew J Jennings, Amanda J Heslegrave, Irene Sargiannidou, Marina Stavrou, Henrik Zetterberg, Mary M Reilly, Christina Christodoulou, Rita Horvath, Kleopas A Kleopa
Mar 15, 2021
Mutations in the GJB1 gene, encoding the gap junction (GJ) protein connexin32 (Cx32), cause X-linked Charcot-Marie-Tooth disease (CMT1X), an inherited demyelinating neuropathy. We developed a gene therapy approach for CMT1X...
Enforcing GLUT3 expression in CD8+ T cells improves fitness and tumor control by promoting glucose uptake and energy storage.
Elisabetta Cribioli, Greta Maria Paola Giordano Attianese, Pierpaolo Ginefra, Amandine Signorino-Gelo, Romain Vuillefroy de Silly, Nicola Vannini, Christoph Hess, Melita Irving, George Coukos
Oct 04, 2022
T cell engineering adoptive cell therapy Glucose Immunotherapy metabolism tumor Animals CD8-Positive T-Lymphocytes Fatty Acids Glucose Glucose Transporter Type 3 Glycogen Immunologic Memory Melanoma Experimental Mice Myeloid Cell Leukemia Sequence 1 Protein Neoplasm Recurrence Local Reactive Oxygen Species Tumor Microenvironment
Ascertaining the burden of invasive Salmonella disease in hospitalised febrile children aged under four years in Blantyre, Malawi.
Chisomo L Msefula, Franziska Olgemoeller, Ndaru Jambo, Dalitso Segula, Trinh Van Tan, Tonney S Nyirenda, Wilfred Nedi, Neil Kennedy, Matthew Graham, Marc YR Henrion, Stephen Baker, Nicholas Feasey, Melita Gordon, Robert S Heyderman
Sep 10, 2019
Typhoid fever is endemic across sub-Saharan Africa. However, estimates of the burden of typhoid are undermined by insufficient blood volumes and lack of sensitivity of blood culture. Here, we aimed to address this limitation by...
Reference exome data for Australian Aboriginal populations to support health-based research
Alexia L. Weeks, Heather A. D’Antoine, Melita McKinnon, Genevieve Syn, Dawn Bessarab, Ngiare Brown, Steven Y. C. Tong, Bo Reményi, Andrew Steer, Lesley-Ann Gray, Michael Inouye, Jonathan R. Carapetis, Jenefer M. Blackwell, Timo Lassmann
Feb 16, 2021
Abstract: Whole exome sequencing (WES) is a popular and successful technology which is widely used in both research and clinical settings. However, there is a paucity of reference data for Aboriginal Australians to underpin the...
A Bayesian approach for estimating typhoid fever incidence from large-scale facility-based passive surveillance data.
Maile T Phillips, James E Meiring, Merryn Voysey, Joshua L Warren, Stephen Baker, Buddha Basnyat, John D Clemens, Christiane Dolecek, Sarah J Dunstan, Gordon Dougan, Melita A Gordon, Deus Thindwa, Robert S Heyderman, Kathryn E Holt, Firdausi Qadri, Andrew J Pollard, Virginia E Pitzer, STRATAA Study Group
Aug 26, 2021
Reference exome data for Australian Aboriginal populations to support health-based research.
Alexia L Weeks, Heather A D'Antoine, Melita McKinnon, Genevieve Syn, Dawn Bessarab, Ngiare Brown, Steven YC Tong, Bo Reményi, Andrew Steer, Lesley-Ann Gray, Michael Inouye, Jonathan R Carapetis, Jenefer M Blackwell, Timo Lassmann
May 20, 2020
Whole exome sequencing (WES) is a popular and successful technology which is widely used in both research and clinical settings. However, there is a paucity of reference data for Aboriginal Australians to underpin the...
Reference exome data for Australian Aboriginal populations to support health-based research
Alexia L. Weeks, Heather A. D’Antoine, Melita McKinnon, Genevieve Syn, Dawn Bessarab, Ngiare Brown, Steven Y. C. Tong, Bo Reményi, Andrew Steer, Lesley-Ann Gray, Michael Inouye, Jonathan R. Carapetis, Jenefer M. Blackwell, Timo Lassmann
Apr 29, 2021
Abstract: Whole exome sequencing (WES) is a popular and successful technology which is widely used in both research and clinical settings. However, there is a paucity of reference data for Aboriginal Australians to underpin the...
The STRATAA study protocol
Thomas C Darton, James E Meiring, Susan Tonks, Md Arifuzzaman Khan, Farhana Khanam, Mila Shakya, Deus Thindwa, Stephen Baker, Buddha Basnyat, John D Clemens, Gordon Dougan, Christiane Dolecek, Sarah J Dunstan, Melita A Gordon, Robert S Heyderman, Kathryn E Holt, Virginia E Pitzer, Firdausi Qadri, K Zaman, Andrew J Pollard, STRATAA Study Consortium
Apr 10, 2019
INTRODUCTION: Invasive infections caused by Salmonella enterica serovar Typhi and Paratyphi A are estimated to account for 12-27 million febrile illness episodes worldwide annually. Determining the true burden of typhoidal...
Africa Asia Diagnosis enteric fever febrile illness healthcare utilisation infection transmission resource-limited setting Salmonella paratyphi A Salmonella typhi seroepidemiology serosurveillance vaccination programme Adolescent Bangladesh Carrier State Censuses Child Child Preschool Cost of Illness Female Health Resources Humans Incidence Infant Infant Newborn Malawi Male Models Theoretical Nepal Patient Acceptance of Health Care Population Surveillance Research Design Seroepidemiologic Studies Surveys and Questionnaires Typhoid Fever
Molecular Surveillance Identifies Multiple Transmissions of Typhoid in West Africa.
International Typhoid Consortium, Vanessa K Wong, Kathryn E Holt, Chinyere Okoro, Stephen Baker, Derek J Pickard, Florian Marks, Andrew J Page, Grace Olanipekun, Huda Munir, Roxanne Alter, Paul D Fey, Nicholas A Feasey, Francois-Xavier Weill, Simon Le Hello, Peter J Hart, Samuel Kariuki, Robert F Breiman, Melita A Gordon, Robert S Heyderman, Jan Jacobs, Octavie Lunguya, Chisomo Msefula, Calman A MacLennan, Karen H Keddy, Anthony M Smith, Robert S Onsare, Elizabeth de Pinna, Satheesh Nair, Ben Amos, Gordon Dougan, Stephen Obaro
Feb 19, 2019
BACKGROUND: The burden of typhoid in sub-Saharan African (SSA) countries has been difficult to estimate, in part, due to suboptimal laboratory diagnostics. However, surveillance blood cultures at two sites in Nigeria have...
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease.
Scott E Youlten, John P Kemp, John G Logan, Elena J Ghirardello, Claudio M Sergio, Michael RG Dack, Siobhan E Guilfoyle, Victoria D Leitch, Natalie C Butterfield, Davide Komla-Ebri, Ryan C Chai, Alexander P Corr, James T Smith, Sindhu T Mohanty, John A Morris, Michelle M McDonald, Julian MW Quinn, Amelia R McGlade, Nenad Bartonicek, Matt Jansson, Konstantinos Hatzikotoulas, Melita D Irving, Ana Beleza-Meireles, Fernando Rivadeneira, Emma Duncan, J Brent Richards, David J Adams, Christopher J Lelliott, Robert Brink, Tri Giang Phan, John A Eisman, David M Evans, Eleftheria Zeggini, Paul A Baldock, JH Duncan Bassett, Graham R Williams, Peter I Croucher
Jun 07, 2021
Osteocytes are master regulators of the skeleton. We mapped the transcriptome of osteocytes from different skeletal sites, across age and sexes in mice to reveal genes and molecular programs that control this complex...
Germline selection shapes human mitochondrial DNA diversity.
Wei Wei, Salih Tuna, Michael J Keogh, Katherine R Smith, Timothy J Aitman, Phil L Beales, David L Bennett, Daniel P Gale, Maria AK Bitner-Glindzicz, Graeme C Black, Paul Brennan, Perry Elliott, Frances A Flinter, R Andres Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R Maher, Hugh S Markus, Nicholas W Morrell, William G Newman, Irene Roberts, John A Sayer, Kenneth GC Smith, Jenny C Taylor, Hugh Watkins, Andrew R Webster, Andrew OM Wilkie, Catherine Williamson, NIHR BioResource–Rare Diseases, 000 Genomes Project–Rare Diseases Pilot 100, Sofie Ashford, Christopher J Penkett, Kathleen E Stirrups, Augusto Rendon, Willem H Ouwehand, John R Bradley, F Lucy Raymond, Mark Caulfield, Ernest Turro, Patrick F Chinnery
Jun 03, 2019
Phylogeographical analysis of the dominant multidrug-resistant H58 clade of Salmonella Typhi identifies inter- and intracontinental transmission events.
Vanessa K Wong, Stephen Baker, Derek J Pickard, Julian Parkhill, Andrew J Page, Nicholas A Feasey, Robert A Kingsley, Nicholas R Thomson, Jacqueline A Keane, François-Xavier Weill, David J Edwards, Jane Hawkey, Simon R Harris, Alison E Mather, Amy K Cain, James Hadfield, Peter J Hart, Nga Tran Vu Thieu, Elizabeth J Klemm, Dafni A Glinos, Robert F Breiman, Conall H Watson, Samuel Kariuki, Melita A Gordon, Robert S Heyderman, Chinyere Okoro, Jan Jacobs, Octavie Lunguya, W John Edmunds, Chisomo Msefula, Jose A Chabalgoity, Mike Kama, Kylie Jenkins, Shanta Dutta, Florian Marks, Josefina Campos, Corinne Thompson, Stephen Obaro, Calman A MacLennan, Christiane Dolecek, Karen H Keddy, Anthony M Smith, Christopher M Parry, Abhilasha Karkey, E Kim Mulholland, James I Campbell, Sabina Dongol, Buddha Basnyat, Muriel Dufour, Don Bandaranayake, Take Toleafoa Naseri, Shalini Pravin Singh, Mochammad Hatta, Paul Newton, Robert S Onsare, Lupeoletalalei Isaia, David Dance, Viengmon Davong, Guy Thwaites, Lalith Wijedoru, John A Crump, Elizabeth de Pinna, Satheesh Nair, Eric J Nilles, Duy Pham Thanh, Paul Turner, Sona Soeng, Mary Valcanis, Joan Powling, Karolina Dimovski, Geoff Hogg, Jeremy Farrar, Kathryn E Holt, Gordon Dougan
Jan 08, 2020
The emergence of multidrug-resistant (MDR) typhoid is a major global health threat affecting many countries where the disease is endemic. Here whole-genome sequence analysis of 1,832 Salmonella enterica serovar Typhi (S. Typhi)...
The contribution of X-linked coding variation to severe developmental disorders
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles, Silvia Borras, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper-Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai-Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury-Ecob, Andrew M. Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Steve Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo-Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw-Smith, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson, Carol Gardiner, Shelagh Joss, Esther Kinning, Cheryl Longman, Ruth McGowan, Victoria Murday, Daniela Pilz, Edward Tobias, Margo Whiteford, Nicola Williams, Angela Barnicoat, Emma Clement, Francesca Faravelli, Jane Hurst, Lucy Jenkins, Wendy Jones, V.K.Ajith Kumar, Melissa Lees, Sam Loughlin, Alison Male, Deborah Morrogh, Elisabeth Rosser, Richard Scott, Louise Wilson, Ana Beleza, Charu Deshpande, Frances Flinter, Muriel Holder, Melita Irving, Louise Izatt, Dragana Josifova, Shehla Mohammed, Aneta Molenda, Leema Robert, Wendy Roworth, Deborah Ruddy, Mina Ryten, Shu Yau, Christopher Bennett, Moira Blyth, Jennifer Campbell, Andrea Coates, Angus Dobbie, Sarah Hewitt, Emma Hobson, Eilidh Jackson, Rosalyn Jewell, Alison Kraus, Katrina Prescott, Eamonn Sheridan, Jenny Thomson, Kirsty Bradshaw, Abhijit Dixit, Jacqueline Eason, Rebecca Haines, Rachel Harrison, Stacey Mutch, Ajoy Sarkar, Claire Searle, Nora Shannon, Abid Sharif, Mohnish Suri, Pradeep Vasudevan, Natalie Canham, Ian Ellis, Lynn Greenhalgh, Emma Howard, Victoria Stinton, Andrew Swale, Astrid Weber, Siddharth Banka, Catherine Breen, Tracy Briggs, Emma Burkitt-Wright, Kate Chandler, Jill Clayton-Smith, Dian Donnai, Sofia Douzgou, Lorraine Gaunt, Elizabeth Jones, Bronwyn Kerr, Claire Langley, Kay Metcalfe, Audrey Smith, Ronnie Wright, David Bourn, John Burn, Richard Fisher, Steve Hellens, Alex Henderson, Tara Montgomery, Miranda Splitt, Volker Straub, Michael Wright, Simon Zwolinski, Zoe Allen, Birgitta Bernhard, Angela Brady, Claire Brooks, Louise Busby, Virginia Clowes, Neeti Ghali, Susan Holder, Rita Ibitoye, Emma Wakeling, Edward Blair, Jenny Carmichael, Deirdre Cilliers, Susan Clasper, Richard Gibbons, Usha Kini, Tracy Lester, Andrea Nemeth, Joanna Poulton, Sue Price, Debbie Shears, Helen Stewart, Andrew Wilkie, Shadi Albaba, Duncan Baker, Meena Balasubramanian, Diana Johnson, Michael Parker, Oliver Quarrell, Alison Stewart, Josh Willoughby, Charlene Crosby, Frances Elmslie, Tessa Homfray, Huilin Jin, Nayana Lahiri, Sahar Mansour, Karen Marks, Meriel McEntagart, Anand Saggar, Kate Tatton-Brown, Rachel Butler, Angus Clarke, Sian Corrin, Andrew Fry, Arveen Kamath, Emma McCann, Hood Mugalaasi, Caroline Pottinger, Annie Procter, Julian Sampson, Francis Sansbury, Vinod Varghese, Diana Baralle, Alison Callaway, Emma J. Cassidy, Stacey Daniels, Andrew Douglas, Nicola Foulds, David Hunt, Mira Kharbanda, Katherine Lachlan, Catherine Mercer, Lucy Side, I. Karen Temple, Diana Wellesley
Jan 27, 2021
Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden...