Results 31 to 40 of about 34,616 (236)

Familial adenomatous polyposis: a case report

Journal of Medical Case Reports
Background Familial adenomatous polyposis is characterized by the presence of multiple colorectal adenomatous polyps and caused by germline mutations in the tumor suppressor gene and adenomatous polyposis coli, located on chromosome 5q21–q22.
Endeshaw Asaye Kindie, Tigist Desta Beyera, Ephrem Tafesse Teferi, Daniel Zemenfes Ashebir, Henok Bahru Wodajeneh   +4 more
doaj   +2 more sources

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families [PDF]

, 2008
Background: The dominantly inherited condition familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. Finding the causative mutations has great implications for the families.
Gunilla Kanter-Smoler, Kaisa Fritzell, Anna Rohlin, Yvonne Engwall, Birgitta Hallberg, Annika Bergman, Johan Meuller, Henrik Grönberg, Per Karlsson, Jan Björk, Margareta Nordling, J Groden, KW Kinzler, L Lipton, N Al-Tassan, S Jones, NS Fearnhead, IS Nathke, ET Renkonen, OM Sieber, J Meuller, S Aretz, G Michils, L Varesco, YL Wallis, GS Charames, S Aretz, DW Neklason, SJ Laken, SM Powell, H Yan, T Venesio, SM Powell, SM Farrington, S Aretz, FJ Hes, P Galiatsatos, HJ Jarvinen, ML Bisgaard, AL Knudsen, J Bjork, G Kanter-Smoler, Z Einbeigi, J Bjork, JP Schouten, MH Nieuwenhuis, PD Stenson, G Joslyn, ML Bisgaard, MH Nieuwenhuis, K Heppner Goss, M Mandl, L Kluwe, S Pedemonte, MO Hiltunen, M Esteller, G Deng, CN Arnold, I Gazzoli, CM Suter, W Friedl, Y Miyoshi, H Lamlum, AL Moisio, H Nagase, R Ripa, S Olschwang, M Miyaki, B Truta, RB van der Luijt, JR Garcia-Lozano, P Paul, M Nilbert, Z Dobbie, S Norheim Andersen   +74 more
core   +2 more sources

The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE)

American Journal of Ophthalmology Case Reports, 2019
Purpose: Clarify the differences between Familial Adenomatous Polyposis (FAP)-associated Congenital Hypertrophy of the Retinal Epithelium (CHRPE) and benign variants with regards to lesion characteristics and associated risk.
Brent Deibert, Letisha Ferris, Noel Sanchez, Paul Weishaar   +3 more
doaj   +1 more source

Immunopurification of adenomatous polyposis coli (APC) proteins [PDF]

BMC Research Notes, 2013
AbstractBackgroundTheadenomatous polyposis coli(APC) tumour suppressor gene encodes a 2843 residue (310 kDa) protein. APC is a multifunctional protein involved in the regulation of β-catenin/Wnt signalling, cytoskeletal dynamics and cell adhesion.APCmutations occur in most colorectal cancers and typically result in truncation of the C-terminal half of ...
Elliott, KL, Catimel, B, Church, NL, Coates, JL, Burgess, AW, Layton, MJ, Faux, MC   +6 more
openaire   +3 more sources

Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy [PDF]

, 2018
Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk.
Azzollini, Jacopo, Bianchi, Simonetta, Bonanni, Bernardo, Bucalo, Agostino, Calistri, Daniele, Catucci, Irene, Coppa, Anna, Cortesi, Laura, Manoukian, Siranoush, Masala, Giovanna, Montagna, Marco, Ottini, Laura, Palli, Domenico, Peterlongo, Paolo, Radice, Paolo, Rizzolo, Piera, Russo, Antonio, Silvestri, Valentina, Spinelli, Alessandro Mauro, Tibiletti, Maria Grazia, Tommasi, Stefania, Valentini, Virginia, Varesco, Liliana, Viel, Alessandra, Zanna, Ines, Zelli, Veronica   +25 more
core   +3 more sources

Cancer Biology:APC Delivers Kiss of Death to Focal Adhesions [PDF]

, 2017
New work shows that the actin-nucleating ability of the adenomatous polyposis coli protein is required for disassembly of focal adhesions. Loss of this function in Apc mutant cells reduces directed cell migration, potentially explaining the decreased ...
Näthke, Inke
core   +2 more sources

APC2 controls dendrite development by promoting microtubule dynamics

Nature Communications, 2018
Microtubules in dendrites are characterized by mixed polarity orientation. Here, the authors show a role for adenomatous polyposis coli 2 (APC2) in regulating dendrite microtubule dynamics and dendrite development.
Olga I. Kahn, Philipp Schätzle, Dieudonnée van de Willige, Roderick P. Tas, Feline W. Lindhout, Sybren Portegies, Lukas C. Kapitein, Casper C. Hoogenraad   +7 more
doaj   +1 more source

Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis

Hereditary Cancer in Clinical Practice, 2023
Background Patients with familial adenomatous polyposis (FAP) have a lifetime risk of developing duodenal adenomas approaching 100%, and the relative risk for duodenal cancer compared with the general population is high.
Hiroko Nakahira, Yoji Takeuchi, Yusaku Shimamoto, Shingo Ishiguro, Hiroshi Yunokizaki, Yasumasa Ezoe, Fumie Fujisawa, Ryu Ishihara, Tetsuji Takayama, Teruhiko Yoshida, Michihiro Mutoh, Hideki Ishikawa   +11 more
doaj   +1 more source

Examination of actin and microtubule dependent APC localisations in living mammalian cells [PDF]

, 2006
(provisional) Background The trafficking of the adenomatous polyposis coli (APC) tumour suppressor protein in mammalian cells is a perennially controversial topic. Immunostaining evidence for an actin-associated APC localisation at intercellular
Adams, A., Askham, J.M., Langford, K.J., Lee, T., Morrison, E.E.   +4 more
core   +3 more sources

Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families [PDF]

, 2015
BACKGROUND: The overwhelming majority (approximately 80%) of individuals with classic familial adenomatous polyposis (FAP) exhibit mutations in the coding sequence of the adenomatous polyposis coli (APC) tumor suppressor gene. Families without detectable
Baxter, Melanie D, Chapman, William C, Davidson, Nicholas O, Goodfellow, Paul J, Kennedy, Susan M, Lin, Lawrence, Lin, Shin, Lin, Yiing, Zhang, Zhengyan   +8 more
core   +2 more sources