نتایج جستجو برای: adenomatous polyposis coli apc
تعداد نتایج: 167846 فیلتر نتایج به سال:
Microtubule plus-end tracking proteins are crucial for the regulation of microtubule dynamics. Preitner et al. report that one such protein, adenomatous polyposis coli (APC), also binds RNA and identify mRNAs encoding tubulin subunits within the brain APC-RNA interactome, suggesting a new mode of microtubule self-regulation.
Background/aim Chemopreventative therapeutics may be helpful in familial adenomatous polyposis (FAP) management; however, prospective chemopreventative studies are complicated by potential ototoxicity and pre-existing hearing loss. The aim of this study was to establish compare baseline status children adolescents with FAP their unaffected siblings. Patients methods Twenty pediatric patients do...
During next generation sequencing (NGS) analysis, many missense mutations were found in a well-known oncogene, many of which were variant of uncertain significance mutations. We recently treated an adult patient with pancreatoblastoma by chemotherapy. Using an NGS cancer panel, we found a previously unreported missense mutation in the 1835 codon of the adenomatous polyposis coli (APC) gene. We ...
BACKGROUND Familial adenomatous polyposis (FAP) is a clinically well defined hereditary disease caused by germline mutations within the adenomatous polyposis coli (APC) gene. Although several techniques are applied in the mutation analysis of FAP kindreds about 20-50% of cases remain unclear, with no APC mutation identified (APC negative). AIMS To delineate phenotypic differences between APC ...
BACKGROUND Familial adenomatous polyposis (FAP) is a rare autosomal dominantly inherited disease predisposing to colon cancer and caused by germline mutations in the APC (adenomatous polyposis coli) gene. AIMS We conducted a population based study to evaluate the prevalence and clinical implications of APC mutations among Finnish FAP kindreds. A possible founder effect in parallel with previo...
A Plawski, J Lubiński, T Banasiewicz, J Paszkowski, D Lipinski, A Strembalska, G Kurzawski, T Byrski, S Zajaczek, D Hodorowicz-Zaniewska, T Gach, I Brozek, D Nowakowska, E Czkwaniec, P Krokowicz, M Drews, J Zeyland, W Juzwa, R Słomski . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
Fundic gland polyps (FGPs) are the most common type of gastric polyps (up to 50%). They are found in up to 0.8-1.9 % of the general population, and in 40-84 % of the patients suffering from familial polyposis syndromes. They might be sporadic or associated to polyposis syndromes. When the former, they should be considered exclusively benign lesions, and possibly related to the chronic use of pr...
Members of the protein kinase C (PKC) family appear to play important roles in colorectal carcinogenesis. To investigate the potential involvement of PKC isozymes in adenomatous transformation induced by inactivation of the adenomatous polyposis coli (APC) gene product, we examined protein levels and localizations of ten PKC isozymes by immunohistochemistry in normal and adenomatous ileal epith...
COLORECTAL CANCER IS CLASSIFIED IN TO THREE FORMS sporadic (70-75%), familial (20-25%) and hereditary (5-10%). hereditary colorectal cancer syndromes classified into two different subtypes: polyposis and non polyposis. Familial Adenomatous polyposis (FAP; OMIM #175100) is the most common polyposis syndrome, account for <1% of colorectal cancer incidence and characterized by germline mutations i...
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