Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Oliver M. Sieber"'
Autor:
Victoria A. Johnson, Kimberley Howarth, Mohammad Ilyas, Ashfaq Gilkar, Hanjing Yang, Andrew D. Rowan, Ian Tomlinson, Jeffrey H Miller, Christina Thirlwell, Bradley Spencer-Dene, Andrew Silver, Gordon Stamp, Oliver M. Sieber, Nikki Mandir, Robert A. Goodlad
Monoallelic APC and biallelic MYH (homolog of Escherichia coli mutY) germ-line mutations are independently associated with a strong predisposition to colorectal adenomas and carcinoma in humans. Whereas mice heterozygous for mutant Apc develop intest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aa26ecb72cdc6bb7dfaee526324131c
https://ora.ox.ac.uk/objects/uuid:a1cb57ef-b2ea-4dc7-ae81-22eec8eff72f
https://ora.ox.ac.uk/objects/uuid:a1cb57ef-b2ea-4dc7-ae81-22eec8eff72f
Autor:
Michael Crabtree, K Neale, Ian Tomlinson, Hunu J W Thomas, Oliver M. Sieber, Karl Heinimann, Lara Lipton, H. Lamlum, Robin Kenneth Stewart Phillips, Shirley Hodgson
The site of the 'first hit' in the APC tumour suppressor gene determines the type of the 'second hit', both in familial adenomatous polyposis (FAP) and sporadic colorectal tumours. Mutations near codon 1300 are associated with loss of heterozygosity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a3ca6ff27e5a20c1c19085a1204d901
https://ora.ox.ac.uk/objects/uuid:fc67a2e3-c385-43cc-b158-7448da8ef4cb
https://ora.ox.ac.uk/objects/uuid:fc67a2e3-c385-43cc-b158-7448da8ef4cb
Autor:
Robyn L. Ward, Manel Esteller, Robin K. S. Phillips, Stefania Segditsas, Fernando Setien, Oliver M. Sieber, Andrew Rowan, K Neale, Ian Tomlinson
Publikováno v:
Experimental and Molecular Pathology. 85:201-206
Germline mutations in the tumour suppressor APC cause familial adenomatous polyposis (FAP), and somatic mutations are common in sporadic colorectal cancers (CRCs). Hypermethylation of APC promoter 1A has been reported in a substantial proportion of s
Autor:
R. K. S. Phillips, Ian Tomlinson, Stefania Segditsas, Kimberley Howarth, Marco Novelli, Ian C. Talbot, Maggie Gorman, Oliver M. Sieber, Christina Thirlwell, G Guerra, Huw Thomas
Publikováno v:
British Journal of Cancer
Patients with multiple (5-100) colorectal adenomas (MCRAs) often have no germline mutation in known predisposition genes, but probably have a genetic origin. We collected a set of 25 MCRA patients with no detectable germline mutation in APC, MYH/MUTY
Autor:
Stefan Aretz, Judith Luz, Thomas Guenther, Karl Heinimann, K Neale, Gavin Kelly, Ian Tomlinson, Stefania Segditsas, Andrew Rowan, Ian M. Frayling, Kimberley Howarth, Oliver M. Sieber, Emmanouil Volikos, Pierre Hutter, Jian Zhang, Andrew Silver, Robin K. S. Phillips, Sarah L. Spain, Malcolm G. Dunlop, Anne Lyster Knudsen, James P. Robinson, Christina Thirlwell, Emma Jaeger
Publikováno v:
Gut. 55:1440-1448
Background: Attenuated familial adenomatous polyposis (AFAP) is associated with germline mutations in the 5′, 3′, and exon 9 of the adenomatous polyposis coli ( APC ) gene. These mutations probably encode a limited amount of functional APC protei
Publikováno v:
Scopus-Elsevier
Human cancers harbour numerous mutations and it has been proposed that these result from some form of inherent genomic instability. Some cancers have proven genomic instability or features that are indicative of this. Inherited cancer syndromes exist
Autor:
Shan Li, Felix R. Day, Andrew Ruszkiewicz, Robert N. Jorissen, A J Simpson, Dana A. Busam, Qi Zhao, Peter Gibbs, Nicholas J. Hawkins, Ian Tomlinson, Robert L. Strausberg, Jayesh Desai, Oliver M. Sieber, James Moore, Cary Tsui, MacDonald J. Christie, Anuratha Sakthianandeswaren, Ian T. Jones, Stephen McLaughlin, Robyn L. Ward, Antony W. Burgess, Lara Lipton, Dmitri Mouradov
Publikováno v:
Oncogene
Biallelic protein-truncating mutations in the adenomatous polyposis coli (APC) gene are prevalent in sporadic colorectal cancer (CRC). Mutations may not be fully inactivating, instead producing WNT/β-catenin signalling levels 'just-right' for tumour
Autor:
James R. Eshleman, Antony R. Parker, Masashi Takao, Li Hua, Ian Tomlinson, Oliver M. Sieber, Chanjuan Shi
Publikováno v:
Carcinogenesis. 26(11)
Inherited biallelic mutations in the human MUTYH gene are responsible for the recessive syndrome--adenomatous colorectal polyposis (MUTYH associated polyposis, MAP)--which significantly increases the risk of colorectal cancer (CRC). Defective MUTYH a
Publikováno v:
Human molecular genetics. (REV. ISS. 2)
Colorectal carcinoma (CRC) remains a frequent cause of cancer-associated mortality in the UK and still has a relatively poor outcome. Single gene defects account for up to 2-6% of cases, but twin studies suggest a hereditary component in 35%. CRC rep
Autor:
Shirley Hodgson, Kevin Pack, Sarah Halford, Andrew Rowan, Oliver M. Sieber, Huw Thomas, Walter F. Bodmer, Lara Lipton, Ian Tomlinson
Publikováno v:
Scopus-Elsevier
MYH-associated polyposis is a recently described, autosomal recessive condition comprising multiple colorectal adenomas and cancer. This disease is caused by germline mutations in the base excision repair (BER) gene MYH. Genes involved in the BER pat