Matches in SemOpenAlex for { <https://semopenalex.org/work/W2016190390> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W2016190390 endingPage "115" @default.
- W2016190390 startingPage "108" @default.
- W2016190390 abstract "The CFTR intron 8 variable length polythymidine tract modulates the cystic fibrosis (CF) phenotype associated with the mutation R117H. To explore whether other mutations reside on multiple intron 8 backgrounds with discernible impacts on phenotype, we developed an allele-specific PCR assay to characterize this locus. Our approach types samples rapidly without the use of radioisotopes. Polythymidine alleles were identified for mutations either associated with a wide range of clinical phenotypes (R117H, R347P, G85E, D1152H, R334W, 2789+5 G>A, 3849+10kb C>T), and/or located at hypermutable CpG loci (R117H, 3849+10kb C>T, R553X, R334W, S945L and R75Q). R117H was detected in cis with each of three alleles (5T, 7T, 9T) at the intron 8 locus. The novel R117H-9T association was detected in a 10-month old African-American male with borderline-to-mildly elevated sweat chloride values (˜50–66 mEq/L). All other mutations studied were associated with 7T except 3849+10kb C>T, which was detected on both 7T and 9T backgrounds, but not 5T. Three individuals with a ΔF508/3849+10kb C>T genotype were 9T,9T and had pancreatic sufficiency and normal sweat chloride values, whereas 15 others who carried 3849+10kb C>T on a 7T background had variable pancreatic function (sufficient, n = 12, insufficient, n = 3), and variable sweat chloride values (normal, n = 12, elevated, n = 3). Surprisingly, when not associated with known CFTR mutations, 5T was detected with elevated frequency among individuals with sinopulmonary disease of ill-defined etiology, but with some characteristics of variant CF. In summary, the 5T allele was not found in cis with CF-causing mutations besides R117H, but an elevated 5T allele frequency in variant CF patients suggests 5T may be associated with disease in some situations. Hum Mutat 10:108–115, 1997. © 1997 Wiley-Liss, Inc." @default.
- W2016190390 created "2016-06-24" @default.
- W2016190390 creator A5009647919 @default.
- W2016190390 creator A5051091681 @default.
- W2016190390 creator A5055982974 @default.
- W2016190390 creator A5084381567 @default.
- W2016190390 date "1997-01-01" @default.
- W2016190390 modified "2023-10-18" @default.
- W2016190390 title "Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease" @default.
- W2016190390 cites W1965743889 @default.
- W2016190390 cites W1970775609 @default.
- W2016190390 cites W1978151850 @default.
- W2016190390 cites W1982447036 @default.
- W2016190390 cites W1986682462 @default.
- W2016190390 cites W1992831558 @default.
- W2016190390 cites W2012682894 @default.
- W2016190390 cites W2016013412 @default.
- W2016190390 cites W2016073646 @default.
- W2016190390 cites W2018414056 @default.
- W2016190390 cites W2023243075 @default.
- W2016190390 cites W2033446692 @default.
- W2016190390 cites W2033909465 @default.
- W2016190390 cites W2039529907 @default.
- W2016190390 cites W2046182100 @default.
- W2016190390 cites W2052588826 @default.
- W2016190390 cites W2063517023 @default.
- W2016190390 cites W2090064498 @default.
- W2016190390 cites W2091146409 @default.
- W2016190390 cites W2118094114 @default.
- W2016190390 cites W2126609769 @default.
- W2016190390 cites W2154937443 @default.
- W2016190390 cites W2336764462 @default.
- W2016190390 cites W4319308443 @default.
- W2016190390 doi "https://doi.org/10.1002/(sici)1098-1004(1997)10:2<108::aid-humu3>3.0.co;2-g" @default.
- W2016190390 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9259194" @default.
- W2016190390 hasPublicationYear "1997" @default.
- W2016190390 type Work @default.
- W2016190390 sameAs 2016190390 @default.
- W2016190390 citedByCount "76" @default.
- W2016190390 countsByYear W20161903902012 @default.
- W2016190390 countsByYear W20161903902013 @default.
- W2016190390 countsByYear W20161903902014 @default.
- W2016190390 countsByYear W20161903902015 @default.
- W2016190390 countsByYear W20161903902018 @default.
- W2016190390 countsByYear W20161903902020 @default.
- W2016190390 countsByYear W20161903902022 @default.
- W2016190390 countsByYear W20161903902023 @default.
- W2016190390 crossrefType "journal-article" @default.
- W2016190390 hasAuthorship W2016190390A5009647919 @default.
- W2016190390 hasAuthorship W2016190390A5051091681 @default.
- W2016190390 hasAuthorship W2016190390A5055982974 @default.
- W2016190390 hasAuthorship W2016190390A5084381567 @default.
- W2016190390 hasBestOaLocation W20161903901 @default.
- W2016190390 hasConcept C104317684 @default.
- W2016190390 hasConcept C127716648 @default.
- W2016190390 hasConcept C135763542 @default.
- W2016190390 hasConcept C180754005 @default.
- W2016190390 hasConcept C2776938444 @default.
- W2016190390 hasConcept C54355233 @default.
- W2016190390 hasConcept C84597430 @default.
- W2016190390 hasConcept C86803240 @default.
- W2016190390 hasConcept C94671646 @default.
- W2016190390 hasConceptScore W2016190390C104317684 @default.
- W2016190390 hasConceptScore W2016190390C127716648 @default.
- W2016190390 hasConceptScore W2016190390C135763542 @default.
- W2016190390 hasConceptScore W2016190390C180754005 @default.
- W2016190390 hasConceptScore W2016190390C2776938444 @default.
- W2016190390 hasConceptScore W2016190390C54355233 @default.
- W2016190390 hasConceptScore W2016190390C84597430 @default.
- W2016190390 hasConceptScore W2016190390C86803240 @default.
- W2016190390 hasConceptScore W2016190390C94671646 @default.
- W2016190390 hasIssue "2" @default.
- W2016190390 hasLocation W20161903901 @default.
- W2016190390 hasLocation W20161903902 @default.
- W2016190390 hasOpenAccess W2016190390 @default.
- W2016190390 hasPrimaryLocation W20161903901 @default.
- W2016190390 hasRelatedWork W1956762270 @default.
- W2016190390 hasRelatedWork W1989502778 @default.
- W2016190390 hasRelatedWork W2002737652 @default.
- W2016190390 hasRelatedWork W2042873259 @default.
- W2016190390 hasRelatedWork W2061630842 @default.
- W2016190390 hasRelatedWork W2124478268 @default.
- W2016190390 hasRelatedWork W2125344851 @default.
- W2016190390 hasRelatedWork W2361342090 @default.
- W2016190390 hasRelatedWork W2413816897 @default.
- W2016190390 hasRelatedWork W858891458 @default.
- W2016190390 hasVolume "10" @default.
- W2016190390 isParatext "false" @default.
- W2016190390 isRetracted "false" @default.
- W2016190390 magId "2016190390" @default.
- W2016190390 workType "article" @default.