نتایج جستجو برای: adenomatous polyposis coli apc

تعداد نتایج: 167846  

Journal: :journal of sciences, islamic republic of iran 2011
rastgar jazii

gastric cancer (gc) is the second most common cancer in the world and a leading cause of cancer-related mortality. methylation of promoter cpg islands (cgis) belonging to tumor suppressor genes causes transcriptional silencing of their corresponding genes leading to carcinogenesis and other disorders. adenomatous polyposis coli (apc) a tumor suppressor gene is inactivated by methylation of prom...

Journal: :Cancer research 1994
S Munemitsu B Souza O Müller I Albert B Rubinfeld P Polakis

Defects in the APC gene occur frequently in patients with familial adenomatous polyposis coli and are associated with the progression of sporadic tumors of the colon and stomach. We examined the subcellular location of adenomatous polyposis coli (APC) protein resulting from transient expression of full length and partial APC complementary DNAs in epithelial cells. Immunofluorescent detection re...

Journal: :Human molecular genetics 2001
N S Fearnhead M P Britton W F Bodmer

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of adenomatous polyps in the colon and rectum, with inevitable development of colorectal cancer if left untreated. FAP is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Somatic mutations in the APC gene are an early event in colorectal tumorigenesis, and can ...

Journal: :acta medica iranica 0
sanambar sadighi department of medical oncology, cancer research center, cancer institute of iran, tehran university of medical sciences, tehran, iran. mahsa ghaffari-moghaddam department of medical genetics, cancer research center, cancer institute of iran, tehran university of medical sciences, tehran, iran. mojtaba saffari department of medical genetics, cancer research center, cancer institute of iran, tehran university of medical sciences, tehran, iran. and departement of medical genetics, school of medicine, tehran university of medical genetics, tehran, iran. mohammad ali mohagheghi department of surgical oncology, cancer research center, cancer institute of iran, tehran university of medical sciences, tehran, iran. reza shirkoohi department of medical genetics, cancer research center, cancer institute of iran, tehran university of medical sciences, tehran, iran

desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (fap) as an extra-colonic manifestation of the disease. fap can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. although mild or attenuated fap may follow mutations in 5΄ extreme of the gene, it is more likely that ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1998
I M Frayling N E Beck M Ilyas I Dove-Edwin P Goodman K Pack J A Bell C B Williams S V Hodgson H J Thomas I C Talbot W F Bodmer I P Tomlinson

Classical familial adenomatous polyposis (FAP) is a high-penetrance autosomal dominant disease that predisposes to hundreds or thousands of colorectal adenomas and carcinoma and that results from truncating mutations in the APC gene. A variant of FAP is attenuated adenomatous polyposis coli, which results from germ-line mutations in the 5' and 3' regions of the APC gene. Attenuated adenomatous ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2012
James M Amos-Landgraf Amy A Irving Cory Hartman Anthony Hunter Brianna Laube Xiaodi Chen Linda Clipson Michael A Newton William F Dove

Studies of tumors from human familial adenomatous polyposis, sporadic colon cancer, and mouse and rat models of intestinal cancer indicate that the majority of early adenomas develop through loss of normal function of the Adenomatous polyposis coli (APC) gene. In murine models of familial adenomatous polyposis, specifically the multiple intestinal neoplasia mouse (Min) and the polyposis in the ...

Journal: :Journal of medical genetics 1999
A Kartheuser C Walon S West C Breukel R Detry A C Gribomont T Hamzehloei P Hoang D Maiter J Pringot J Rahier P M Khan A Curtis J Burn R Fodde C Verellen-Dumoulin

Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullary adenomatous polyposis, in association with three bilateral adrenocortical ad...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2002
Sumitaka Hasegawa Tomoyuki Sato Hiroshi Akazawa Hitoshi Okada Akiteru Maeno Masaki Ito Yoshinobu Sugitani Hiroyuki Shibata Jun-ichi Miyazaki Ji Motoya Katsuki Yasutaka Yamauchi Ken-ichi Yamamura Ki Shigeru Katamine Tetsuo Noda

Apc is a gene associated with familial adenomatous polyposis coli (FAP) and its inactivation is a critical step in colorectal tumor formation. The protein product, adenomatous polyposis coli (APC), acts to down-regulate intracellular levels of beta-catenin, a key signal transducer in the Wnt signaling. Conditional targeting of Apc in the neural crest of mice caused massive apoptosis of cephalic...

Journal: :Cancer research 1994
K J Smith D B Levy P Maupin T D Pollard B Vogelstein K W Kinzler

The adenomatous polyposis coli protein (APC) is mutated in familial adenomatous polyposis patients as well as in sporadic colorectal tumors. In an attempt to further understand the function of APC, the subcellular localization of APC was examined. Wild-type and mutant forms of APC were expressed in mammalian cells and protein detected by immunofluorescence using monoclonal and polyclonal antibo...

Journal: :Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva 2012
Orestis Ioannidis George Paraskevas Stavros Chatzopoulos Anastasios Kotronis Nikolaos Papadimitriou Athina Konstantara Apostolos Makrantonakis Emmanouil Kakoutis

Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene...

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