Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Nicole Gossan"'
Autor:
Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 249 v
Externí odkaz:
https://doaj.org/article/cff014b62747418fa2af4029a4e249c3
Autor:
Nan Yang, Jack Williams, Vanja Pekovic-Vaughan, Pengbo Wang, Safiah Olabi, James McConnell, Nicole Gossan, Alun Hughes, Julia Cheung, Charles H. Streuli, Qing-Jun Meng
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
Circadian clocks regulate physiological and behavioural rhythms. Here, the authors show that the stiffness of the extracellular environment regulates circadian clocks in murine breast epithelium via Rho signalling, and explain how extracellular matri
Externí odkaz:
https://doaj.org/article/955c28cf7ce343ed863b7a61fa3f8152
Autor:
James Blackburn, Dinesh Giri, Barbara Ciolka, Nicole Gossan, Mohammad Didi, George Kokai, Alison Waghorn, Matthew Jones, Senthil Senniappan
Publikováno v:
Case Reports in Genetics, Vol 2018 (2018)
Activating mutations in thyrotropin receptor (TSHR) have been previously described in the context of nonautoimmune hyperthyroidism and thyroid adenomas. We describe, for the first time, a mutation in TSHR contributing to follicular thyroid carcinoma
Externí odkaz:
https://doaj.org/article/4e46b77a9b5a493a966be9008ee70978
Publikováno v:
Clinical and Experimental Dermatology. 47:1010-1012
Prolidase deficiency is a rare cause of chronic ulceration with less than 100 reported cases in the literature. This article highlights to clinicians the features of this uncommon genodermatosis, the challenge of diagnosis, and treatment options.
Autor:
Augusto Rendon, A. Kousathanas, S. E. A. Leigh, D. Kasperaviciute, R. Jackson, J. Pullinger, Richard H. Scott, T. Rahim, Graeme C.M. Black, C. A. Odhams, Simon C Ramsden, A. Siddiq, L. Lahnstein, S. R. Thompson, Huw B. Thomas, Jenny Lord, M. Bleda, M. J. Welland, L. Moutsianas, A. Giess, Jill Clayton-Smith, A. Stuckey, Panagiotis I. Sergouniotis, H. Brittain, K. Sawant, Arianna Tucci, A. Sosinsky, I. U. S. Leong, Nicole Gossan, William G. Newman, Christopher Campbell, Mark J. Caulfield, T. Rogers, Diana Baralle, Andrew G. L. Douglas, A. L. Taylor Tavares, N. Murugaesu, Gavin Arno, S. M. Wood, Louise J. Jones, Robert A. Hirst, Htoo A Wai, A. Hamblin, Glenda M. Beaman, P. O’Donovan, A. Sieghart, F. Maleady-Crowe, S. Henderson, M. Tanguy, Claire Hardcastle, C. R. Boustred, G. C. Chan, M. McEntagart, Beatriz Gomes-Silva, E. Williams, Andrew R. Webster, Ellen R A Thomas, T. Fowler, Christine Patch, Raymond T. O'Keefe, Elizabeth A. Jones, D. Perez-Gil, M. B. Pereira, R. Bevers, F. J. Lopez, Jamie M Ellingford, Kevin Webb, M. Kayikci, S. C. Smith, F. Boardman-Pretty, Charlie Rowlands, K. Witkowsa, P. Arumugam, A. C. Need, Tim Hubbard, J. C. Ambrose, M. Mueller, Christopher O'Callaghan, F. Minneci, K. Savage
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 250 variants o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab35c97f0d97111f801af95b74d199e
https://doi.org/10.22541/au.160157595.59675486
https://doi.org/10.22541/au.160157595.59675486
Autor:
Charlie Rowlands, Simon C Ramsden, Christopher O'Callaghan, Kevin Webb, Graeme C.M. Black, Robert A. Hirst, Beatriz Gomes-Silva, Andrew R. Webster, Gavin Arno, Jamie M Ellingford, Claire Hardcastle, Huw B. Thomas, William G. Newman, Jill Clayton-Smith, Raymond T. O'Keefe, Christopher J. Campbell, Glenda M. Beaman, Elizabeth A. Jones, Nicole Gossan
PurposeTo develop a comprehensive analysis framework to identify pre-messenger RNA splicing mutations in the context of rare disease.MethodsWe assessed ‘variants of uncertain significance’ through six in-silico prioritization strategies. Firstly,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ca12f81dee89eba6fc8f089a338bd4
Autor:
Jayalath P.D. Ruckshanthi, Qing-Jun Meng, Ding Jin, Xin Li, Michal Dudek, Raymond P. Boot-Handford, Ping Wang, Nan Yang, Hikari Yoshitane, Nicole Gossan, Ilaria Bellantuono, Yoshitaka Fukada, Maya Boudiffa, Hee Jeong Im
Publikováno v:
Dudek, M, Gossan, N, Yang, N, Im, H-J, Ruckshanthi, J P D, Yoshitane, H, Li, X, Jin, D, Wang, P, Boudiffa, M, Bellantuono, I, Fukada, Y, Boot-Handford, R & Meng, Q-J 2016, ' The chondrocyte clock gene Bmal1 controls cartilage homeostasis and integrity. ', Journal of Clinical Investigation, vol. 126, no. 1, pp. 365-376 . https://doi.org/10.1172/JCI82755
Osteoarthritis (OA) is the most prevalent and debilitating joint disease, and there are currently no effective disease-modifying treatments available. Multiple risk factors for OA, such as aging, result in progressive damage and loss of articular car
Autor:
Dinesh Giri, Alison Waghorn, George Kokai, Senthil Senniappan, James Blackburn, Nicole Gossan, Matthew Jones, Barbara Ciolka, Mohammad Didi
Publikováno v:
Case Reports in Genetics, Vol 2018 (2018)
Case Reports in Genetics
Case Reports in Genetics
Activating mutations in thyrotropin receptor (TSHR) have been previously described in the context of nonautoimmune hyperthyroidism and thyroid adenomas. We describe, for the first time, a mutation inTSHRcontributing to follicular thyroid carcinoma (F
Autor:
Matthew Jones, Dinesh Giri, James Blackburn, Nicole Gossan, Senthil Seniappan, Alison Waghorn, George Kokai, Mohammed Didi, Barbara Ciolka
Publikováno v:
Endocrine Abstracts.
Autor:
Raymond P. Boot-Handford, John F. Bateman, Hugh D. Piggins, Magnus Rattray, Nicole Gossan, Leo A. H. Zeef, Alun T. L. Hughes, Christopher B. Little, Qing-Jun Meng, Lynn Rowley, James Hensman
Publikováno v:
Arthritis and Rheumatism
The circadian clock governs ∼24-hour cycles in physiology through rhythmic control of tissue-specific sets of clock-controlled genes (CCGs), which allows precise orchestration of organ function (1). In mammals (including humans), the circadian syst