MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

Molatore, Sara; Russo, Maria Teresa; D'Agostino, Vito G; Barone, Flavia; Matsumoto, Yoshihiro; Albertini, Alessandra M; Minoprio, Anna; Degan, Paolo; Mazzei, Filomena; Bignami, Margherita; Ranzani, Guglielmina Nadia

Molatore, Sara; Russo, Maria Teresa; D'Agostino, Vito G; Barone, Flavia; Matsumoto, Yoshihiro; Albertini, Alessandra M; Minoprio, Anna; Degan, Paolo; Mazzei, Filomena; Bignami, Margherita; Ranzani, Guglielmina Nadia.

Affiliation

Molatore S; Department of Genetics and Microbiology, University of Pavia, Pavia, Italy.

Hum Mutat ; 31(2): 159-66, 2010 Feb.

Article in En | MEDLINE | ID: mdl-19953527

Subject(s)

Adenomatous Polyposis Coli/enzymology; Adenomatous Polyposis Coli/genetics; DNA Glycosylases/genetics; Enzyme Assays/methods; Fibroblasts/enzymology; Genetic Predisposition to Disease; Mutation/genetics; 8-Hydroxy-2'-Deoxyguanosine; Animals; Bromates/pharmacology; Cell Death/drug effects; Cell Death/radiation effects; Cell Line; DNA Glycosylases/isolation & purification; DNA Repair/drug effects; DNA Repair/radiation effects; Deoxyguanosine/analogs & derivatives; Deoxyguanosine/metabolism; Fibroblasts/drug effects; Fibroblasts/radiation effects; Fluorescent Antibody Technique; Gamma Rays; Humans; Kinetics; Mice; Mutant Proteins/genetics; Mutant Proteins/metabolism; Protein Transport/drug effects; Protein Transport/radiation effects

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Full text: 1 Database: MEDLINE Main subject: Adenomatous Polyposis Coli / Genetic Predisposition to Disease / DNA Glycosylases / Enzyme Assays / Fibroblasts / Mutation Type of study: Risk_factors_studies Limits: Animals / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2010 Type: Article Affiliation country: Italy

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