FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2144804489> ?p ?o ?g. }

• W2144804489 endingPage "1813" @default.
• W2144804489 startingPage "1809" @default.
• W2144804489 abstract "Spinocerebellar ataxia 7 (SCA7) is the eighth neurodegenerative disorder caused by a translated CAG repeat expansion. Normal SCA7 alleles carry from four to 35 CAG repeats, whereas pathological alleles carry from 37 to ∼200. Intermediate alleles (lAs), with 28–35 repeats in the SCA7 gene are exceedingly rare in the general population and are not associated with the SCA7 phenotype, although they have been found among relatives of four SCA7 families. In two of these families, IAs bearing 35 and 28 CAG repeats gave rise, during paternal transmission, to SCA7 expansions of 57 and 47 repeats, respectively, that were confirmed by haplotype reconstructions in one case and by inference in the other. Furthermore, the four haplotypes segregating with IAs were identical to the expanded alleles in each kindred, but differed among the families, indicating multiple origins of the SCA7 mutation in these families with different geographical origins. Our results provide the first evidence of de novo SCA7 expansions from lAs that are not associated with the phenotype but can expand to the pathological range during some paternal transmissions. lAs that segregate in unaffected branches of the pedigrees might, therefore, constitute a reservoir for future de novo mutations that occur in a recurrent but random manner. This would explain the persistence of the disease in spite of the great anticipation (∼20 years/generation) characteristic of SCA7. So far, de novo expansions among the disorders caused by polyglutamine repeats have only been demonstrated in Huntington's disease." @default.
• W2144804489 created "2016-06-24" @default.
• W2144804489 creator A5006492716 @default.
• W2144804489 creator A5007032386 @default.
• W2144804489 creator A5007104087 @default.
• W2144804489 creator A5026045963 @default.
• W2144804489 creator A5027293126 @default.
• W2144804489 creator A5027489586 @default.
• W2144804489 creator A5057192241 @default.
• W2144804489 creator A5075704131 @default.
• W2144804489 date "1998-10-01" @default.
• W2144804489 modified "2023-10-11" @default.
• W2144804489 title "De Novo Expansion of Intermediate Alleles in Spinocerebellar Ataxia 7" @default.
• W2144804489 cites W1972666360 @default.
• W2144804489 cites W1980721237 @default.
• W2144804489 cites W1992113775 @default.
• W2144804489 cites W1996663995 @default.
• W2144804489 cites W1999222814 @default.
• W2144804489 cites W2004161499 @default.
• W2144804489 cites W2028504089 @default.
• W2144804489 cites W2033290393 @default.
• W2144804489 cites W2035070579 @default.
• W2144804489 cites W2042333586 @default.
• W2144804489 cites W2052883021 @default.
• W2144804489 cites W2066326071 @default.
• W2144804489 cites W2078515086 @default.
• W2144804489 cites W2094386686 @default.
• W2144804489 cites W2099562440 @default.
• W2144804489 cites W2100137986 @default.
• W2144804489 cites W2100283067 @default.
• W2144804489 cites W2107632226 @default.
• W2144804489 cites W2115155228 @default.
• W2144804489 cites W2117120482 @default.
• W2144804489 cites W2121361038 @default.
• W2144804489 cites W2134575917 @default.
• W2144804489 cites W2135732252 @default.
• W2144804489 cites W2138506733 @default.
• W2144804489 cites W2149355456 @default.
• W2144804489 cites W2150889831 @default.
• W2144804489 cites W3185739311 @default.
• W2144804489 doi "https://doi.org/10.1093/hmg/7.11.1809" @default.
• W2144804489 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9736784" @default.
• W2144804489 hasPublicationYear "1998" @default.
• W2144804489 type Work @default.
• W2144804489 sameAs 2144804489 @default.
• W2144804489 citedByCount "93" @default.
• W2144804489 countsByYear W21448044892012 @default.
• W2144804489 countsByYear W21448044892013 @default.
• W2144804489 countsByYear W21448044892014 @default.
• W2144804489 countsByYear W21448044892015 @default.
• W2144804489 countsByYear W21448044892016 @default.
• W2144804489 countsByYear W21448044892017 @default.
• W2144804489 countsByYear W21448044892018 @default.
• W2144804489 countsByYear W21448044892019 @default.
• W2144804489 countsByYear W21448044892020 @default.
• W2144804489 countsByYear W21448044892021 @default.
• W2144804489 countsByYear W21448044892022 @default.
• W2144804489 countsByYear W21448044892023 @default.
• W2144804489 crossrefType "journal-article" @default.
• W2144804489 hasAuthorship W2144804489A5006492716 @default.
• W2144804489 hasAuthorship W2144804489A5007032386 @default.
• W2144804489 hasAuthorship W2144804489A5007104087 @default.
• W2144804489 hasAuthorship W2144804489A5026045963 @default.
• W2144804489 hasAuthorship W2144804489A5027293126 @default.
• W2144804489 hasAuthorship W2144804489A5027489586 @default.
• W2144804489 hasAuthorship W2144804489A5057192241 @default.
• W2144804489 hasAuthorship W2144804489A5075704131 @default.
• W2144804489 hasBestOaLocation W21448044891 @default.
• W2144804489 hasConcept C104317684 @default.
• W2144804489 hasConcept C144024400 @default.
• W2144804489 hasConcept C149923435 @default.
• W2144804489 hasConcept C154945302 @default.
• W2144804489 hasConcept C166252455 @default.
• W2144804489 hasConcept C176777502 @default.
• W2144804489 hasConcept C180754005 @default.
• W2144804489 hasConcept C195054827 @default.
• W2144804489 hasConcept C197754878 @default.
• W2144804489 hasConcept C22593422 @default.
• W2144804489 hasConcept C2779500118 @default.
• W2144804489 hasConcept C2908647359 @default.
• W2144804489 hasConcept C41008148 @default.
• W2144804489 hasConcept C54355233 @default.
• W2144804489 hasConcept C86803240 @default.
• W2144804489 hasConceptScore W2144804489C104317684 @default.
• W2144804489 hasConceptScore W2144804489C144024400 @default.
• W2144804489 hasConceptScore W2144804489C149923435 @default.
• W2144804489 hasConceptScore W2144804489C154945302 @default.
• W2144804489 hasConceptScore W2144804489C166252455 @default.
• W2144804489 hasConceptScore W2144804489C176777502 @default.
• W2144804489 hasConceptScore W2144804489C180754005 @default.
• W2144804489 hasConceptScore W2144804489C195054827 @default.
• W2144804489 hasConceptScore W2144804489C197754878 @default.
• W2144804489 hasConceptScore W2144804489C22593422 @default.
• W2144804489 hasConceptScore W2144804489C2779500118 @default.
• W2144804489 hasConceptScore W2144804489C2908647359 @default.
• W2144804489 hasConceptScore W2144804489C41008148 @default.
• W2144804489 hasConceptScore W2144804489C54355233 @default.
• W2144804489 hasConceptScore W2144804489C86803240 @default.

• next