Zobrazeno 1 - 10
of 222
pro vyhledávání: '"Kaisaki P"'
Autor:
Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly l
Externí odkaz:
https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc
Autor:
Fernandez Christina, Camps Carme, Barrett Amy, Kaisaki Pamela J, Wills Quin F, Taylor Jennifer M, Lockstone Helen E, Herrera Blanca M, Ragoussis Jiannis, Gauguier Dominique, McCarthy Mark I, Lindgren Cecilia M
Publikováno v:
BMC Medical Genomics, Vol 2, Iss 1, p 54 (2009)
Abstract Background MicroRNAs (miRNAs) are non-coding RNA molecules involved in post-transcriptional control of gene expression of a wide number of genes, including those involved in glucose homeostasis. Type 2 diabetes (T2D) is characterized by hype
Externí odkaz:
https://doaj.org/article/82cf343cb8054eb781381029991cba36
Autor:
Farrall Martin, Parving Hans-Henrik, Marre Michel, Hadjadj Samy, Groop Per-Henrik, Tarnow Lise, Blancher Christine, Woon Peng Y, Wallace Karin J, Wilder Steven P, Argoud Karène, Kaisaki Pamela J, Hu Yaomin, Cox Roger D, Lathrop Mark, Vionnet Nathalie, Bihoreau Marie-Thérèse, Gauguier Dominique
Publikováno v:
BMC Medical Genomics, Vol 2, Iss 1, p 41 (2009)
Abstract Background Hyperglycaemia in diabetes mellitus (DM) alters gene expression regulation in various organs and contributes to long term vascular and renal complications. We aimed to generate novel renal genome-wide gene transcription data in ra
Externí odkaz:
https://doaj.org/article/21e95a36f2b44a5db0b99fe4cf2bca8c
Autor:
Bihoreau Marie-Thérèse, Ragoussis Jiannis, Salhan Anita, Argoud Karène, Kaisaki Pamela J, Wilder Steven P, Gauguier Dominique
Publikováno v:
BMC Genomics, Vol 10, Iss 1, p 63 (2009)
Abstract Background Microarray technologies are widely used to quantify the abundance of transcripts corresponding to thousands of genes. To maximise the robustness of transcriptome results, we have tested the performance and reproducibility of rat a
Externí odkaz:
https://doaj.org/article/12451657ad524595b9723bf9b419c396
Autor:
Pamela J Kaisaki, Anthony Cutts, Niko Popitsch, Carme Camps, Melissa M Pentony, Gareth Wilson, Suzanne Page, Kulvinder Kaur, Dimitris Vavoulis, Shirley Henderson, Avinash Gupta, Mark R Middleton, Ioannis Karydis, Denis C Talbot, Anna Schuh, Jenny C Taylor
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162809 (2016)
Use of circulating tumour DNA (ctDNA) as a liquid biopsy has been proposed for potential identification and monitoring of solid tumours. We investigate a next-generation sequencing approach for mutation detection in ctDNA in two related studies using
Externí odkaz:
https://doaj.org/article/c84931d42bd34e6883e57ececea2c9cd
Autor:
Pamela J Kaisaki, Georg W Otto, Joanna F McGouran, Amine Toubal, Karène Argoud, Helen Waller-Evans, Clare Finlay, Sophie Caldérari, Marie-Thérèse Bihoreau, Benedikt M Kessler, Dominique Gauguier, Richard Mott
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e94555 (2014)
Post-translational protein modifications such as acetylation have significant regulatory roles in metabolic processes, but their relationship to both variation in gene expression and DNA sequence is unclear. We address this question in the Goto-Kakiz
Externí odkaz:
https://doaj.org/article/df135f88f9f649eaad9b62bf58e4c475
Autor:
Domingo, E, Camps, C, Kaisaki, P, Parsons, M, Mouradov, D, Pentony, M, Makino, S, Palmieri, M, Ward, R, Hawkins, N, Gibbs, P, Askautrud, H, Oukrif, D, Wang, H, Wood, J, Tomlinson, E, Bark, Y, Kaur, K, Johnstone, E, Palles, C, Church, D, Novelli, M, Danielsen, H, Sherlock, J, Kerr, D, Kerr, R, Sieber, O, Taylor, J, Tomlinson, I
Publikováno v:
The Lancet. Gastroenterology & Hepatology
BASE-Bielefeld Academic Search Engine
Domingo, E, Camps, C, Kaisaki, P J, Parsons, M J, Mouradov, D, Pentony, M M, Makino, S, Palmieri, M, Ward, R L, Hawkins, N J, Gibbs, P, Askautrud, H, Oukrif, D, Wang, H, Wood, J, Tomlinson, E, Bark, Y, Kaur, K, Johnstone, E C, Palles, C, Church, D N, Novelli, M, Danielsen, H E, Sherlock, J, Kerr, D, Kerr, R, Sieber, O, Taylor, J C & Tomlinson, I 2018, ' Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series ', Lancet Gastroenterology and Hepatology, vol. 3, no. 9, pp. 635-643 . https://doi.org/10.1016/S2468-1253(18)30117-1
BASE-Bielefeld Academic Search Engine
Domingo, E, Camps, C, Kaisaki, P J, Parsons, M J, Mouradov, D, Pentony, M M, Makino, S, Palmieri, M, Ward, R L, Hawkins, N J, Gibbs, P, Askautrud, H, Oukrif, D, Wang, H, Wood, J, Tomlinson, E, Bark, Y, Kaur, K, Johnstone, E C, Palles, C, Church, D N, Novelli, M, Danielsen, H E, Sherlock, J, Kerr, D, Kerr, R, Sieber, O, Taylor, J C & Tomlinson, I 2018, ' Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series ', Lancet Gastroenterology and Hepatology, vol. 3, no. 9, pp. 635-643 . https://doi.org/10.1016/S2468-1253(18)30117-1
BACKGROUND: Molecular indicators of colorectal cancer prognosis have been assessed in several studies, but most analyses have been restricted to a handful of markers. We aimed to identify prognostic biomarkers for colorectal cancer by sequencing pane
Akademický článek
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Autor:
Pagnamenta, A, Kaisaki, P, Bennett, F, Burkitt-Wright, E, Martin, H, Ferla, M, Taylor, J, Gompertz, L, Lahiri, N, Tatton-Brown, K, Newbury-Ecob, R, Henderson, A, Joss, S, Weber, A, Carmichael, J, Turnpenny, P, McKee, S, Forzano, F, Ashraf, T, Bradbury, K, Shears, D, Kini, U, De Burca, A, Study, The DDD, Blair, E, Stewart, H
Publikováno v:
Clinical Genetics
Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, recent studies indicate LZTR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::eb3e2d121fdc789a91dfe6d6f9ef8d4b
https://doi.org/10.1111/cge.13533
https://doi.org/10.1111/cge.13533
Akademický článek
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