1 to 10 of 60 literature results

• Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.

  Integrins are the major adhesion receptors of leukocytes and platelets. Beta1 and beta2 integrin function on leukocytes is crucial for a successful im…

  Authors: Lena Svensson, Kimberley Howarth, Alison McDowall, Irene Patzak, Rachel Evans, Siegfried Ussar, Markus Moser, Ayse Metin, Mike Fried, Ian Tomlinson,…

  Source: Nature medicine. 2009 Mar

  View Free Full Text

• The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

  Homozygosity for the G allele of rs6983267 at 8q24 increases colorectal cancer (CRC) risk approximately 1.5 fold. We report here that the risk allele …

  Authors: Sari Tuupanen, Mikko Turunen, Rainer Lehtonen, Outi Hallikas, Sakari Vanharanta, Teemu Kivioja, Mikael Björklund, Gonghong Wei, Jian Yan, Iina Niittymäki,…

  Source: Nature genetics. 2009 Aug

  View Full Text

• Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.

  We mapped a high-penetrance gene (CRAC1; also known as HMPS) associated with colorectal cancer (CRC) in the Ashkenazi population to a 0.6-Mb region on…

  Authors: Emma Jaeger, Emily Webb, Kimberley Howarth, Luis Carvajal-Carmona, Andrew Rowan, Peter Broderick, Axel Walther, Sarah Spain, Alan Pittman, Zoe Kemp,…

  Source: Nature genetics. 2008 Jan

  View Full Text

• Colorectal cancer risk is not associated with increased levels of homozygosity in a population from the United Kingdom.

  Genome-wide association studies have identified several common single nucleotide polymorphisms (SNP) associated with an increased risk of colorectal c…

  Authors: Sarah L Spain, Jean-Baptiste Cazier, CORGI Consortium,, Richard Houlston, Luis Carvajal-Carmona, Ian Tomlinson

  Source: Cancer research. 2009 Sep 15

  View Full Text

• Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK.

  A recent study examined common genetic variants at the adiponectin locus (ADIPOQ) in two case-control colorectal cancer (CRC) series from the USA and …

  Authors: Luis G Carvajal-Carmona, Sarah Spain, CORGI Consortium, David Kerr, Richard Houlston, Jean-Baptiste Cazier, Ian Tomlinson

  Source: Human molecular genetics. 2009 May 15

  View Full Text

• A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

  To identify risk variants for colorectal cancer (CRC), we conducted a genome-wide association study, genotyping 550,163 tag SNPs in 940 individuals wi…

  Authors: Peter Broderick, Luis Carvajal-Carmona, Alan M Pittman, Emily Webb, Kimberley Howarth, Andrew Rowan, Steven Lubbe, Sarah Spain, Kate Sullivan, Sarah Fielding,…

  Source: Nature genetics. 2007 Nov

  View Full Text

• A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.

  Much of the variation in inherited risk of colorectal cancer (CRC) is probably due to combinations of common low risk variants. We conducted a genome-…

  Authors: Ian Tomlinson, Emily Webb, Luis Carvajal-Carmona, Peter Broderick, Zoe Kemp, Sarah Spain, Steven Penegar, Ian Chandler, Maggie Gorman, Wendy Wood,…

  Source: Nature genetics. 2007 Aug

  View Full Text

• Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

  BACKGROUND & AIMS: We report a patient of Indian descent with parental consanguinity, who developed 10 carcinomas and 35 adenomatous polyps at age 23 …

  Authors: Olivia Will, Luis G Carvajal-Carmona, Patricia Gorman, Kimberley M Howarth, Angela M Jones, Guadalupe M Polanco-Echeverry, Jo-Anne Chinaleong, Thomas Günther, Andrew Silver, Susan K Clark,…

  Source: Gastroenterology. 2007 Feb

  View Full Text

• A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.

  Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk. We perf…

  Authors: Honglin Song, Susan J Ramus, Jonathan Tyrer, Kelly L Bolton, Aleksandra Gentry-Maharaj, Eva Wozniak, Hoda Anton-Culver, Jenny Chang-Claude, Daniel W Cramer, Richard DiCioccio,…

  Source: Nature genetics. 2009 Sep

  View Full Text

• The Apc 1322T mouse develops severe polyposis associated with submaximal nuclear beta-catenin expression.

  BACKGROUND & AIMS: We previously demonstrated that the 2 APC mutations in human colorectal tumors are coselected, because tumorigenesis requires an op…

  Authors: Patrick Pollard, Maesha Deheragoda, Stefania Segditsas, Annabelle Lewis, Andrew Rowan, Kimberley Howarth, Lisa Willis, Emma Nye, Amy McCart, Nikki Mandir,…

  Source: Gastroenterology. 2009 Jun

  View Full Text