Matches in SemOpenAlex for { <https://semopenalex.org/work/W2163658794> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2163658794 endingPage "1421" @default.
- W2163658794 startingPage "1421" @default.
- W2163658794 abstract "To identify genetic mutations in the coding regions and the splice-donor sites of the tau gene on chromosome 17q in individuals with progressive supranuclear palsy (PSP).Several studies provide evidence for linkage disequilibrium between a PSP disease gene and allelic variants of the tau gene. However, a causative mutation has not been identified.We designed a study to search for genetic mutations in 15 coding regions of the tau gene including the splice-donor sites in 22 patients with PSP by comparing the mobility shifts on single-strand conformation analysis with those of age-matched controls. Fragments with altered migration were sequenced directly and compared for differences in nucleotide composition. Restriction enzyme digests were used to confirm single base-pair substitutions.Significant differences in mobility shifts were found in exons 1, 4A, and 8 between affected individuals and age-matched controls. All individuals with PSP had a common extended haplotype characterized by a homozygous polymorphism in the 5' splice site untranslated region of exon 1, two missense mutations in exon 4A (Asp285Asn, Ala289Val), and a nonsense mutation in the 5' splice site of exon 8.This study demonstrates that 22 unrelated progressive supranuclear palsy (PSP) patients have four identical sequence variants within the tau gene that are not present in 24 age-matched controls. Although the functional significance of these results on tau protein expression is unknown, the presence of this susceptibility haplotype in individuals may place them at risk for developing PSP." @default.
- W2163658794 created "2016-06-24" @default.
- W2163658794 creator A5015591517 @default.
- W2163658794 creator A5023249056 @default.
- W2163658794 creator A5046233238 @default.
- W2163658794 date "1999-10-22" @default.
- W2163658794 modified "2023-09-24" @default.
- W2163658794 title "Mutational analysis of the tau gene in progressive supranuclear palsy" @default.
- W2163658794 cites W150987474 @default.
- W2163658794 cites W1511517753 @default.
- W2163658794 cites W1944699774 @default.
- W2163658794 cites W1971125966 @default.
- W2163658794 cites W1972355725 @default.
- W2163658794 cites W1974760231 @default.
- W2163658794 cites W1994234870 @default.
- W2163658794 cites W2021326232 @default.
- W2163658794 cites W2028410287 @default.
- W2163658794 cites W2035462700 @default.
- W2163658794 cites W2038823952 @default.
- W2163658794 cites W2045857789 @default.
- W2163658794 cites W2048041842 @default.
- W2163658794 cites W2058562556 @default.
- W2163658794 cites W2075791440 @default.
- W2163658794 cites W2089330750 @default.
- W2163658794 cites W2098131816 @default.
- W2163658794 cites W2111567107 @default.
- W2163658794 cites W2136557657 @default.
- W2163658794 cites W2139933719 @default.
- W2163658794 cites W2142326012 @default.
- W2163658794 cites W2142433545 @default.
- W2163658794 cites W2143604549 @default.
- W2163658794 cites W2146287111 @default.
- W2163658794 cites W2159377066 @default.
- W2163658794 cites W2162288917 @default.
- W2163658794 cites W2172007938 @default.
- W2163658794 cites W2327267141 @default.
- W2163658794 doi "https://doi.org/10.1212/wnl.53.7.1421" @default.
- W2163658794 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10534245" @default.
- W2163658794 hasPublicationYear "1999" @default.
- W2163658794 type Work @default.
- W2163658794 sameAs 2163658794 @default.
- W2163658794 citedByCount "50" @default.
- W2163658794 countsByYear W21636587942014 @default.
- W2163658794 countsByYear W21636587942016 @default.
- W2163658794 countsByYear W21636587942020 @default.
- W2163658794 countsByYear W21636587942021 @default.
- W2163658794 countsByYear W21636587942022 @default.
- W2163658794 countsByYear W21636587942023 @default.
- W2163658794 crossrefType "journal-article" @default.
- W2163658794 hasAuthorship W2163658794A5015591517 @default.
- W2163658794 hasAuthorship W2163658794A5023249056 @default.
- W2163658794 hasAuthorship W2163658794A5046233238 @default.
- W2163658794 hasConcept C104317684 @default.
- W2163658794 hasConcept C180754005 @default.
- W2163658794 hasConcept C197754878 @default.
- W2163658794 hasConcept C2776477761 @default.
- W2163658794 hasConcept C2781172350 @default.
- W2163658794 hasConcept C36823959 @default.
- W2163658794 hasConcept C501734568 @default.
- W2163658794 hasConcept C54355233 @default.
- W2163658794 hasConcept C75563809 @default.
- W2163658794 hasConcept C86803240 @default.
- W2163658794 hasConcept C91779695 @default.
- W2163658794 hasConceptScore W2163658794C104317684 @default.
- W2163658794 hasConceptScore W2163658794C180754005 @default.
- W2163658794 hasConceptScore W2163658794C197754878 @default.
- W2163658794 hasConceptScore W2163658794C2776477761 @default.
- W2163658794 hasConceptScore W2163658794C2781172350 @default.
- W2163658794 hasConceptScore W2163658794C36823959 @default.
- W2163658794 hasConceptScore W2163658794C501734568 @default.
- W2163658794 hasConceptScore W2163658794C54355233 @default.
- W2163658794 hasConceptScore W2163658794C75563809 @default.
- W2163658794 hasConceptScore W2163658794C86803240 @default.
- W2163658794 hasConceptScore W2163658794C91779695 @default.
- W2163658794 hasIssue "7" @default.
- W2163658794 hasLocation W21636587941 @default.
- W2163658794 hasLocation W21636587942 @default.
- W2163658794 hasOpenAccess W2163658794 @default.
- W2163658794 hasPrimaryLocation W21636587941 @default.
- W2163658794 hasRelatedWork W1975253683 @default.
- W2163658794 hasRelatedWork W1993582876 @default.
- W2163658794 hasRelatedWork W2060169551 @default.
- W2163658794 hasRelatedWork W2068932327 @default.
- W2163658794 hasRelatedWork W2258430434 @default.
- W2163658794 hasRelatedWork W2349400098 @default.
- W2163658794 hasRelatedWork W2350102540 @default.
- W2163658794 hasRelatedWork W2362650105 @default.
- W2163658794 hasRelatedWork W2409341427 @default.
- W2163658794 hasRelatedWork W3032164203 @default.
- W2163658794 hasVolume "53" @default.
- W2163658794 isParatext "false" @default.
- W2163658794 isRetracted "false" @default.
- W2163658794 magId "2163658794" @default.
- W2163658794 workType "article" @default.