Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Julie Helen Maynard"'
Autor:
Julie Helen Maynard, Alice A. Davies, Hala Jundi, Iris Egner, Peter Giles, Matthew Mort, Emma Short, Claudia Consoli, Julian R. Sampson, Alice Bolton, Laura E. Thomas
Publikováno v:
Eur J Hum Genet
Familial adenomatous polyposis (FAP) is characterised by the development of hundreds to thousands of colorectal adenomas and results from inherited or somatic mosaic variants in the APC gene. Index patients with suspected FAP are usually investigated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68209c36f518f8be082e5b700f2e6d90
https://europepmc.org/articles/PMC6906400/
https://europepmc.org/articles/PMC6906400/
Autor:
Geraint T. Williams, Andrej Fischer, Alistair G. Rust, Julie Helen Maynard, Ville Mustonen, David J. Adams, Philip Stevens, Mamunur Rashid, Jessamy Tiffen, Julian R. Sampson, Shelley Idziaszczyk, Catherine H. Wilson
Publikováno v:
The Journal of Pathology
Familial adenomatous polyposis (FAP) and MUTYH‐associated polyposis (MAP) are inherited disorders associated with multiple colorectal adenomas that lead to a very high risk of colorectal cancer. The somatic mutations that drive adenoma development
Autor:
Julie Helen Maynard, Richard Kaplan, Shelley Idziaszczyk, Harpreet Wasan, James Colley, Rebecca Harris, Tim Maughan, Richard Adams, Jeremy Peter Cheadle, Vikki Humphreys, A Madi, David Fisher, Angela M. Meade
Publikováno v:
European Journal of Cancer. 102
Background Inherited genetic variants may influence response to, and side-effects from, chemotherapy. We sought to generate a comprehensive inherited pharmacogenetic profile for oxaliplatin and 5FU/capecitabine therapy in advanced colorectal cancer (
Autor:
Ben Van den Bosch, Rebecca Harris, Jeremy Peter Cheadle, Richard Kaplan, Julie Helen Maynard, A Madi, Vikki Humphreys, Tim Maughan, Shelley Idziaszczyk, Harpreet Wasan, James Colley, David Fisher, Sabine Tejpar, Angela M. Meade, Richard Adams
Publikováno v:
Journal of Medical Genetics. 54(8)
Background\ud Somatic mutations in the epidermal growth factor receptor (EGFR) intracellular signalling pathways predict non-response to cetuximab in the treatment of advanced colorectal cancer (aCRC). We hypothesized that common germline variants wi
Autor:
Harpreet Wasan, Tim Maughan, Shelley Idziaszczyk, David E. Fisher, Rebecca Harris, James Colley, A Meade, Vikki Humphreys, Julie Helen Maynard, Richard Kaplan, Jeremy Peter Cheadle, A Madi, Richard Adams
Publikováno v:
Annals of Oncology. 29:viii22
Rare genetic variants in DPYP increase toxicity and screening for them prevents serious complications by upfront reduction in 5FU dose; however, most patients with severe toxicities do not have a rare mutation. We have previously shown that 2 common
Autor:
Tim Eisen, Nada Al-Tassan, Jeremy Peter Cheadle, Richard S. Houlston, Christina M. Fleischmann, Helen Bridle, Julie Helen Maynard, Bindiya Shah, Julian R. Sampson
Publikováno v:
Human Genetics. 114:207-210
The base excision repair gene MYH protects against damage to DNA from reactive oxygen species, which are commonly found in cigarette smoke. Inherited mutations in MYH predispose to colorectal adenomas and carcinomas that show a characteristic pattern
Autor:
Julie Helen Maynard, Julian R. Sampson, Paul Emmerson, Sian D. Jones, Jeremy Peter Cheadle, Rachel Butler
Publikováno v:
Human Mutation. 21:112-115
Somatic mosaicism is a frequent phenomenon in mendelian disorders that exhibit a high proportion of new mutations; however, mutant alleles present at low frequency are difficult to detect and characterize. We have previously shown that denaturing hig
Autor:
G. T. Williams, Julie Helen Maynard, Jeremy Peter Cheadle, Nikolas H. Chmiel, D. Rhodri Davies, Angela Hodges, Sheila S. David, Alison L. Livingston, Nicholas I. Fleming, Nada Al-Tassan, Julian R. Sampson
Publikováno v:
Nature Genetics. 30:227-232
Inherited defects of base excision repair have not been associated with any human genetic disorder, although mutations of the genes mutM and mutY, which function in Escherichia coli base excision repair, lead to increased transversions of G:C to T:A1
Autor:
Julian R. Sampson, Jeremy Peter Cheadle, Loukas Tzitzis, Nicholas I. Fleming, Julie Helen Maynard
Publikováno v:
Journal of Biochemical and Biophysical Methods. 47:131-136
A number of techniques have been developed as primary screens to scan for DNA sequence variants, including denaturing gradient gel electrophoresis, denaturing high-performance liquid chromatography, single-strand conformation polymorphism and heterod
Autor:
Steven C. Clifford, Lee Parry, Julie Helen Maynard, Julian R. Sampson, Eamonn R. Maher, A. Patel, Jeremy Peter Cheadle, Catherine Morrissey
Publikováno v:
British Journal of Cancer
The genetic events involved in the aetiology of non-clear-cell renal cell carcinoma (RCC) and a proportion of clear cell RCC remain to be defined. Germline mutations of the TSC1and TSC2genes cause tuberous sclerosis (TSC), a multi-system hamartoma sy