<b>Background</b>: Retinal amyloid angiopathy is a sight-threatening complication of familial amyloid polyneuropathy (FAP) caused by pathological deposition of transthyretin.
(a) the morphological similarity of adenomas in the Min mouse and human suggest the Min mouse is a good model of FAP; (b) duodenal adenomas in FAP originate in monocryptal adenomas and follow the 'bottom-up' rather than the 'top-down' model of morphogenesis; (c) early microadenomas show evidence of cellular differentiation; (d) defects in the positioning of Paneth cells suggests disruption of the EphB2:EphB3 receptor system.
(a) the morphological similarity of adenomas in the Min mouse and human suggest the Min mouse is a good model of FAP; (b) duodenal adenomas in FAP originate in monocryptal adenomas and follow the 'bottom-up' rather than the 'top-down' model of morphogenesis; (c) early microadenomas show evidence of cellular differentiation; (d) defects in the positioning of Paneth cells suggests disruption of the EphB2:EphB3 receptor system.
(ii) All the FAP patients in Ishikawa had transthyretin (TTR) type FAP; all the families had a TTRVal30Met mutation except one family with a Leu58Arg mutation.
195 (108 female) patients underwent TPC-IPAA at a median age of 14 years (IQR: 11-16) for CUC (N = 99) or FAP (N = 96).Two-thirds of cases were laparoscopic.
195 (108 female) patients underwent TPC-IPAA at a median age of 14 years (IQR: 11-16) for CUC (N = 99) or FAP (N = 96).Two-thirds of cases were laparoscopic.
:The aim of this study was to determine the proportion of patients with familial adenomatous polyposis (FAP) who had mutations in the desmoid region of the adenomatous polyposis coli (APC) gene that phenotypically expresses desmoid disease, and to determine the role for surgery in these patients.
Adenomatous polyposis coli (APC) mutations cause an intracellular accumulation of beta-catenin that results in abnormal signaling in the wnt/wingless pathway.
APC is expressed in a wide variety of tissues, interacts with the cytoskeleton, is involved in regulating levels of beta-catenin and, most recently, has been shown to bind DNA, suggesting that it may possess a nuclear role.
Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the adenomatous polyposis coli (APC) gene.
Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the adenomatous polyposis coli (APC) gene.
Familial adenomatous polyposis (FAP) is an autosomal, dominantly inherited predisposition to colorectal cancer caused by germline mutations within the adenomatous polyposis coli (APC) gene, a key member of the Wnt signalling pathway.