Zobrazeno 1 - 10 of 53 pro vyhledávání: '"Katrina M. Wood"'
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Calcium oxalate crystal deposition in the kidney: identification, causes and consequences
Autor: John A. Sayer, R Geraghty, Katrina M Wood
Publikováno v: Urolithiasis
Calcium oxalate (CaOx) crystal deposition within the tubules is often a perplexing finding on renal biopsy of both native and transplanted kidneys. Understanding the underlying causes may help diagnosis and future management. The most frequent cause
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b6d7b12ee522120b010665ac082fb38
https://doi.org/10.1007/s00240-020-01202-w
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4
Genomic abnormalities of TP53 define distinct risk groups of paediatric B-cell non-Hodgkin lymphoma
Autor: S Wilkinson, P Zhou, Christine J. Harrison, Simon Bomken, Alex E. Blain, Julian De Zordi, Chris M. Bacon, Alexander M. Newman, G. A. Amos Burke, Amir Enshaei, Mary Taj, Rachel E Crossland, Suzanne D. Turner, Despina Televantou, Amy Erhorn, Vikki Rand, Fiona Harding, Katrina M Wood, A Barnard, Masood Zaka
Publikováno v: Leukemia. 36(3)
Children with B-cell non-Hodgkin lymphoma (B-NHL) have an excellent chance of survival, however, current clinical risk stratification places as many as half of patients in a high-risk group receiving very intensive chemo-immunotherapy. TP53 alteratio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d0fc5580417cb3f92949ca35052e769
https://pubmed.ncbi.nlm.nih.gov/34675373
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5
Transplantation for congenital heart disease is associated with an increased risk of Epstein-Barr virus-related post-transplant lymphoproliferative disorder in children
Autor: Kevin Windebank, Chris M. Bacon, Malcolm Brodlie, Julie Flett, Asif Hasan, Jason Powell, Andrew R. Gennery, Jessica Roberts, Vikki Rand, Gareth Parry, Katrina M Wood, Ugonna T. Offor, Terry Hewitt, Simon Bomken, Zdenka Reinhardt
Publikováno v: The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation. 40(1)
Children undergoing heart transplant are at higher risk of developing post-transplant lymphoproliferative disorder (PTLD) than other solid organ recipients. The factors driving that risk are unclear. This study investigated risk factors for PTLD in c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a1dac1f614e32e5031e49299f7f323
https://pubmed.ncbi.nlm.nih.gov/33339556
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6
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
Autor: Colin G. Miles, Heather J. Cordell, Simon A. Ramsbottom, Meral Gunay-Aygun, Shirlee Shril, Elisa Molinari, John A. Sayer, Helena L. Spiewak, Laura A. Devlin, Peter E. Thelwall, Sophie Saunier, Flora Silbermann, Friedhelm Hildebrandt, Katrina M Wood, Gavin J. Clowry
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (2), pp.1113-1118. ⟨10.1073/pnas.1912602117⟩
Significance Our current understanding of genetic disease is often inadequate, largely due to genetic background effects that modify disease presentation. This is particularly challenging for rare diseases that lack sufficient numbers of patients for
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d3167e5c19dd935c90aa0521c2420b4
https://hal.science/hal-03932210
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7
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2
Autor: Katrina M Wood, Stephania Bitetti, Mohammed Zarhrate, Rafiqul Hussain, Vicky Brocklebank, Meghan Acres, Vincent Bondet, Ruyue Sun, Tracy A Briggs, Rui Chen, John H. Livingston, Richard E. Randall, Robert Wynn, Claire L. Harris, Darragh Duffy, Cécile Fourrage, Florian Gothe, Christopher J A Duncan, Sophie Hambleton, Stephen M. Hughes, Karin R. Engelhardt, Julija Pavaine, Leo A. H. Zeef, Jonathan Coxhead, Dan F. Young, Yanick J. Crow, Aneta Mikulasova, Victoria G. Shuttleworth, Bronte M. Corner, Gillian I. Rice, Edmund Cheesman, Barbara A. Innes, Ronnie Wright, David J. Kavanagh, Angela Grainger, Simon C. Lovell, Andrew J. Skelton, Benjamin J. Thompson
Publikováno v: Rice, G, Lovell, S, Pavaine, J, Wright, R, Zeef, L, Hambleton, S, Briggs, T & et al. 2019, ' Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 ', Science Immunology, vol. 4, no. 42, eaav7501 . https://doi.org/10.1126/sciimmunol.aav7501
Duncan, C J A, Thompson, B, Chen, R, Rice, G I, Gothe, F, Young, D F, Lovell, S C, Shuttleworth, V G, Brocklebank, V, Corner, B, Skelton, A J, Bondet, V, Coxhead, J, Duffy, D, Fourrage, C, Livingston, J H, Pavaine, J, Cheesman, E, Bitetti, S, Grainger, A, Acres, M, Innes, B A, Mikulasova, A, Sun, R, Hussain, R, Wright, R, Wynn, R, Zarhrate, M, Zeef, L A H, Wood, K M, Hughes, S M, Harris, C L, Engelhardt, K R, Crow, Y, Randall, R E, Kavanagh, D, Hambleton, S & Briggs, T A 2019, ' Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 ', Science Immunology . https://doi.org/10.1126/sciimmunol.aav7501
Science Immunology
Science Immunology, 2019, 4 (42), pp.eaav7501. ⟨10.1126/sciimmunol.aav7501⟩
Science Immunology, American Association for the Advancement of Science, 2019, 4 (42), pp.eaav7501. ⟨10.1126/sciimmunol.aav7501⟩
International audience; Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet its direct role remains to be conclusively proven. We investigated two siblings with severe early-onset autoinflammatory disease
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b75b99ad822c9b4f4b821ead0cffb9e2
https://pure.manchester.ac.uk/ws/files/149146089/aav7501_ArticleContent_preedit_CD_clean.docx
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8
High-dose chemotherapy and autologous stem cell transplantation in enteropathy-associated and other aggressive T-cell lymphomas: a UK NCRI/Cancer Research UK Phase II Study
Autor: Gail Jones, Elizabeth H Phillips, Katrina M Wood, Paul Smith, Andre Lopes, Humra Chadwick, Nick Chadwick, Michal Sieniawski, Laura Clifton-Hadley, Anthony Lawrie, Michelle Lannon, Anne Lennard, Andrew Davies
Publikováno v: Bone Marrow Transplantation. 54:465-468
In the original version of this article, the mention of ‘ifosfamide 1500 mg/m2 days 1–3’ should, in fact, read ‘ifosfamide 1500 mg/m2 bd days 1–3’. This has now been updated in the original version of the article.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e5d95ca91c07b8eed021b4967f0831be
https://doi.org/10.1038/s41409-018-0294-2
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9
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants
Autor: Shreya Raman, Eva Decker, Simon A. Ramsbottom, John A. Sayer, Sumaya Alkanderi, Colin G. Miles, Shalabh Srivastava, Holly Mabillard, Colin A. Johnson, James Tellez, Elisa Molinari, Katrina M Wood, Caroline Kempf, Friedhelm Hildebrandt, Carsten Bergmann
Publikováno v: European Journal of Human Genetics
The majority of multi-exon genes undergo alternative splicing to produce different mRNA transcripts and this may occur in a tissue-specific manner. Assessment of mRNA transcripts isolated from blood samples may sometimes be unhelpful in determining t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee9ba4165cd1db1282cc6e27a3f4705
https://doi.org/10.1038/s41431-018-0212-5
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10
Akademický článek
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
Autor: Julian P Venables, Lisa Strain, Danny Routledge, David Bourn, Helen M Powell, Paul Warwicker, Martha L Diaz-Torres, Anne Sampson, Paul Mead, Michelle Webb, Yves Pirson, Michael S Jackson, Anne Hughes, Katrina M Wood, Judith A Goodship, Timothy H J Goodship
Publikováno v: PLoS Medicine, Vol 3, Iss 10, p e431 (2006)
BACKGROUND: Sequence analysis of the regulators of complement activation (RCA) cluster of genes at chromosome position 1q32 shows evidence of several large genomic duplications. These duplications have resulted in a high degree of sequence identity b
Externí odkaz: https://doaj.org/article/209c2f92f798427db3774ee714ab993d
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