FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1998052259> ?p ?o ?g. }

• W1998052259 endingPage "2148" @default.
• W1998052259 startingPage "2142" @default.
• W1998052259 abstract "Purpose: Familial adenomatous polyposis is characterized by the development of hundreds of adenomatous polyps located mainly in the colon and rectum. Patients with familial adenomatous polyposis who do not receive treatment will develop cancer before aged 40 years. This disease is caused by germline mutations in the adenomatous polyposis coli gene. Different studies have shown a correlation between the location of the mutation and the clinical phenotype, such as the grade of severity and/or the presence of extracolonic manifestations, such as desmoid tumors. This study was designed to identify germline mutation in the adenomatous polyposis coli gene in Chilean families with familial adenomatous polyposis. Methods: We examined the adenomatous polyposis coli gene in 24 Chilean families with familial adenomatous polyposis. The adenomatous polyposis coli gene was screened for mutations combining single strand conformation polymorphism technique, protein truncation test, and DNA sequencing. Results: We detected 17 different truncating mutations in 21 of 24 families (87.5 percent); 9 of these were novel. Fourteen mutations were detected in exon 15, being the most frequent c.3927_3931delAAAGA, found in 3 of 21 families (14 percent). Eight families (33 percent) showed at least one patient affected with desmoid tumors, presenting mutations between codons 849 and 1533. Interestingly, two mutations, c.3632dupA and c.3783_3784delTT, leading into a truncating protein at codons 1216 and 1274, were associated with almost 100 percent penetrance for desmoid tumors among relatives. Conclusions: We achieved 87 percent mutation detection rate in adenomatous polyposis coli gene; more than 50 percent of them were novel. The high percentage of novel mutations found may be because of the genetic composition of the Chilean population, which is an admixture of Amerindian and Spaniards, and the scarce information in the literature about similar populations." @default.
• W1998052259 created "2016-06-24" @default.
• W1998052259 creator A5026149601 @default.
• W1998052259 creator A5041472158 @default.
• W1998052259 creator A5046727284 @default.
• W1998052259 creator A5054740820 @default.
• W1998052259 creator A5058272249 @default.
• W1998052259 creator A5064233528 @default.
• W1998052259 creator A5069925991 @default.
• W1998052259 creator A5080489552 @default.
• W1998052259 creator A5088727449 @default.
• W1998052259 date "2007-12-01" @default.
• W1998052259 modified "2023-09-30" @default.
• W1998052259 title "Mutational Screening of the APC Gene in Chilean Families with Familial Adenomatous Polyposis: Nine Novel Truncating Mutations" @default.
• W1998052259 cites W1605229390 @default.
• W1998052259 cites W1964824015 @default.
• W1998052259 cites W1969230135 @default.
• W1998052259 cites W1969906973 @default.
• W1998052259 cites W1971106681 @default.
• W1998052259 cites W1971884902 @default.
• W1998052259 cites W1977127546 @default.
• W1998052259 cites W1979618971 @default.
• W1998052259 cites W1982793182 @default.
• W1998052259 cites W1993124733 @default.
• W1998052259 cites W1995386525 @default.
• W1998052259 cites W2002404925 @default.
• W1998052259 cites W2010174939 @default.
• W1998052259 cites W2014813076 @default.
• W1998052259 cites W2023250908 @default.
• W1998052259 cites W2026895762 @default.
• W1998052259 cites W2033068174 @default.
• W1998052259 cites W2052165838 @default.
• W1998052259 cites W2058403714 @default.
• W1998052259 cites W2058628002 @default.
• W1998052259 cites W2059813946 @default.
• W1998052259 cites W2062710707 @default.
• W1998052259 cites W2067052539 @default.
• W1998052259 cites W2068318740 @default.
• W1998052259 cites W2074435603 @default.
• W1998052259 cites W2077269424 @default.
• W1998052259 cites W2079466805 @default.
• W1998052259 cites W2085403697 @default.
• W1998052259 cites W2103923927 @default.
• W1998052259 cites W2120580535 @default.
• W1998052259 cites W2149754173 @default.
• W1998052259 cites W2156350004 @default.
• W1998052259 cites W2158714839 @default.
• W1998052259 cites W2159876957 @default.
• W1998052259 cites W2165011473 @default.
• W1998052259 cites W2333304332 @default.
• W1998052259 cites W2411970697 @default.
• W1998052259 cites W4379767807 @default.
• W1998052259 doi "https://doi.org/10.1007/s10350-007-9044-z" @default.
• W1998052259 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17963004" @default.
• W1998052259 hasPublicationYear "2007" @default.
• W1998052259 type Work @default.
• W1998052259 sameAs 1998052259 @default.
• W1998052259 citedByCount "9" @default.
• W1998052259 countsByYear W19980522592013 @default.
• W1998052259 countsByYear W19980522592014 @default.
• W1998052259 countsByYear W19980522592016 @default.
• W1998052259 countsByYear W19980522592017 @default.
• W1998052259 countsByYear W19980522592018 @default.
• W1998052259 countsByYear W19980522592022 @default.
• W1998052259 crossrefType "journal-article" @default.
• W1998052259 hasAuthorship W1998052259A5026149601 @default.
• W1998052259 hasAuthorship W1998052259A5041472158 @default.
• W1998052259 hasAuthorship W1998052259A5046727284 @default.
• W1998052259 hasAuthorship W1998052259A5054740820 @default.
• W1998052259 hasAuthorship W1998052259A5058272249 @default.
• W1998052259 hasAuthorship W1998052259A5064233528 @default.
• W1998052259 hasAuthorship W1998052259A5069925991 @default.
• W1998052259 hasAuthorship W1998052259A5080489552 @default.
• W1998052259 hasAuthorship W1998052259A5088727449 @default.
• W1998052259 hasConcept C104317684 @default.
• W1998052259 hasConcept C109825262 @default.
• W1998052259 hasConcept C121608353 @default.
• W1998052259 hasConcept C126322002 @default.
• W1998052259 hasConcept C127716648 @default.
• W1998052259 hasConcept C13514818 @default.
• W1998052259 hasConcept C200544954 @default.
• W1998052259 hasConcept C2778237340 @default.
• W1998052259 hasConcept C2780814781 @default.
• W1998052259 hasConcept C2994225774 @default.
• W1998052259 hasConcept C36823959 @default.
• W1998052259 hasConcept C501734568 @default.
• W1998052259 hasConcept C502942594 @default.
• W1998052259 hasConcept C526805850 @default.
• W1998052259 hasConcept C54355233 @default.
• W1998052259 hasConcept C71924100 @default.
• W1998052259 hasConcept C86803240 @default.
• W1998052259 hasConceptScore W1998052259C104317684 @default.
• W1998052259 hasConceptScore W1998052259C109825262 @default.
• W1998052259 hasConceptScore W1998052259C121608353 @default.
• W1998052259 hasConceptScore W1998052259C126322002 @default.
• W1998052259 hasConceptScore W1998052259C127716648 @default.
• W1998052259 hasConceptScore W1998052259C13514818 @default.
• W1998052259 hasConceptScore W1998052259C200544954 @default.

• next