Výsledky vyhledávání - "Tomlinson, Ian PM"

Akademický článek

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci

Autor: Houlston Richard S, Tomlinson Ian PM, Järvinen Heikki, Mecklin Jukka-Pekka, Li Yilong, Tuupanen Sari, Niittymäki Iina, Karhu Auli, Aaltonen Lauri A

Publikováno v: BMC Medical Genetics, Vol 12, Iss 1, p 23 (2011)

Abstract Background Common single-nucleotide polymorphisms (SNPs) in ten chromosomal loci have been shown to predispose to colorectal cancer (CRC) in genome-wide association studies. A plausible biological mechanism of CRC susceptibility associated w

Externí odkaz: https://doaj.org/article/6f71cb92ef314094bdb2ddce6911af9f

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Akademický článek

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency

Autor: Tomlinson Ian PM, Launonen Virpi, Bayley Jean-Pierre

Publikováno v: BMC Medical Genetics, Vol 9, Iss 1, p 20 (2008)

Abstract Background Fumarate hydratase (HGNC approved gene symbol – FH), also known as fumarase, is an enzyme of the tricarboxylic acid (TCA) cycle, involved in fundamental cellular energy production. First described by Zinn et al in 1986, deficien

Externí odkaz: https://doaj.org/article/530de54ac61a4d95a9aa5f1eba8c74b1

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Akademický článek

EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis

Autor: Schleutker Johanna, Eng Charis, Mecklin Jukka-Pekka, Järvinen Heikki, Carvajal-Carmona Luis G, Korja Sanna, Lehtonen Rainer, Laiho Päivi, Kokko Antti, Tomlinson Ian PM, Vahteristo Pia, Aaltonen Lauri A

Publikováno v: BMC Cancer, Vol 6, Iss 1, p 145 (2006)

Abstract Background Ephrin receptor B2 (EPHB2) has recently been proposed as a novel tumor suppressor gene in colorectal cancer (CRC). Inactivation of the gene has been shown to correlate with progression of colorectal tumorigenesis, and somatic muta

Externí odkaz: https://doaj.org/article/995d86c241564bbe99a8fe5024956ab6

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Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

Autor: Tomlinson, Ian PM, Carvajal-Carmona, Luis G, Dobbins, Sara E, Tenesa, Albert, Jones, Angela M, Howarth, Kimberley, Palles, Claire, Broderick, Peter, Jaeger, Emma EM, Farrington, Susan, Lewis, Annabelle, Prendergast, James GD, Pittman, Alan M, Theodoratou, Evropi, Olver, Bianca, Walker, Marion, Penegar, Steven, Barclay, Ella, Whiffin, Nicola, Martin, Lynn, Ballereau, Stephane, Lloyd, Amy, Gorman, Maggie, Lubbe, Steven, COGENT Consortium, CORGI Collaborators, EPICOLON Consortium, Howie, Bryan, Marchini, Jonathan, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Castells, Antoni, Carracedo, Angel, Castellvi-Bel, Sergi, Duggan, David, Conti, David, Cazier, Jean-Baptiste, Campbell, Harry, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G, Montgomery, Grant W, Young, Joanne, Baird, Paul N, Gallinger, Steven, Newcomb, Polly, Hopper, John, Jenkins, Mark A, Aaltonen, Lauri A, Kerr, David J, Cheadle, Jeremy, Pharoah, Paul, Casey, Graham, Houlston, Richard S, Dunlop, Malcolm G

Publikováno v: PLoS genetics, vol 7, iss 6
Recercat. Dipósit de la Recerca de Catalunya
instname
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Tomlinson, I P M, Carvajal-Carmona, L G, Dobbins, S E, Tenesa, A, Jones, A M, Howarth, K, Palles, C, Broderick, P, Jaeger, E E M, Farrington, S, Lewis, A, Prendergast, J G D, Pittman, A M, Theodoratou, E, Olver, B, Walker, M, Penegar, S, Barclay, E, Whiffin, N, Martin, L, Ballereau, S, Lloyd, A, Gorman, M, Lubbe, S, Howie, B, Marchini, J, Ruiz-Ponte, C, Fernandez-Rozadilla, C, Castells, A, Carracedo, A, Castellvi-Bel, S, Duggan, D, Conti, D, Cazier, J-B, Campbell, H, Sieber, O, Lipton, L, Gibbs, P, Martin, N G, Montgomery, G W, Young, J, Baird, P N, Gallinger, S, Newcomb, P, Hopper, J, Jenkins, M A, Aaltonen, L A, Kerr, D J & Cheadle, J & Dunlop, M G 2011, ' Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer ', PLoS Genetics, vol. 7, no. 6, e1002105 . https://doi.org/10.1371/journal.pgen.1002105
PLoS Genetics, Vol 7, Iss 6, p e1002105 (2011)
PLoS Genetics; Vol 7
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS Genetics

Genome-wide association studies (GWAS) have identified 14 tagging single nucleotide polymorphisms (tagSNPs) that are associated with the risk of colorectal cancer (CRC), and several of these tagSNPs are near bone morphogenetic protein (BMP) pathway l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81fb1275ea62884e417397234ea27c44
https://escholarship.org/uc/item/8hg5z5bp

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Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

Autor: Houlston, Richard S, Cheadle, Jeremy, Dobbins, Sara E, Tenesa, Albert, Jones, Angela M, Howarth, Kimberley, Spain, Sarah L, Broderick, Peter, Domingo, Enric, Farrington, Susan, Prendergast, James GD, Pittman, Alan M, Theodoratou, Evi, Smith, Christopher G, Olver, Bianca, Walther, Axel, Barnetson, Rebecca A, Churchman, Michael, Jaeger, Emma EM, Penegar, Steven, Barclay, Ella, Martin, Lynn, Gorman, Maggie, Mager, Rachel, Johnstone, Elaine, Midgley, Rachel, Niittymäki, Iina, Tuupanen, Sari, Colley, James, Idziaszczyk, Shelley, COGENT Consortium, Thomas, Huw JW, Lucassen, Anneke M, Evans, D Gareth R, Maher, Eamonn R, CORGI Consortium, COIN Collaborative Group, COINB Collaborative Group, Maughan, Timothy, Dimas, Antigone, Dermitzakis, Emmanouil, Cazier, Jean-Baptiste, Aaltonen, Lauri A, Pharoah, Paul, Kerr, David J, Carvajal-Carmona, Luis G, Campbell, Harry, Dunlop, Malcolm G, Tomlinson, Ian PM

Publikováno v: Nature genetics, vol 42, iss 11
Houlston, R S, Cheadle, J, Dobbins, S E, Tenesa, A, Jones, A M, Howarth, K, Spain, S L, Broderick, P, Domingo, E, Farrington, S, Prendergast, J, Pittman, A M, Theodoratou, E, Smith, C G, Olver, B, Walther, A, Barnetson, R A, Churchman, M, Jaeger, E E M, Penegar, S, Barclay, E, Martin, L, Gorman, M, Mager, R, Johnstone, E, Midgley, R, Niittymäki, I, Tuupanen, S, Colley, J, Idziaszczyk, S, Thomas, H J W, Lucassen, A M, Evans, D G R, Maher, E R, Maughan, T, Dimas, A, Dermitzakis, E, Cazier, J-B, Aaltonen, L A, Pharoah, P, Kerr, D J, Carvajal-Carmona, L G, Campbell, H & Dunlop, M G & Tomlinson, I P M 2010, ' Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 ', Nature Genetics, vol. 42, no. 11, pp. 973-979 . https://doi.org/10.1038/ng.670
Nature genetics
Nature Genetics, Vol. 42, No 11 (2010) pp. 973-977

Genome-wide association studies (GWAS) have identified ten loci harboring common variants that influence risk of developing colorectal cancer (CRC). To enhance the power to identify additional CRC risk loci, we conducted a meta-analysis of three GWAS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21ac673c90b7898a8ed57941e13a00cc
https://escholarship.org/uc/item/7r09g9sc

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