Matches in SemOpenAlex for { <https://semopenalex.org/work/W1567869942> ?p ?o ?g. }
- W1567869942 endingPage "83" @default.
- W1567869942 startingPage "67" @default.
- W1567869942 abstract "The general model that dominant diseases are caused by mutations that result in a gain or change in function of the corresponding protein was challenged by the discovery that the myotonic dystrophy type 1 mutation is a CTG expansion located in the 3´ untranslated portion of a kinase gene. The subsequent discovery that a similar transcribed but untranslated CCTG expansion in an intron causes the same multisystemic features in myotonic dystrophy type 2 (DM2), along with other developments in the DM1 field, demonstrate a mechanism in which these expansion mutations cause disease through a gain of function mechanism triggered by the accumulation of transcripts containing CUG or CCUG repeat expansions. A similar RNA gain of function mechanism has also been implicated in fragile X tremor ataxia syndrome (FXTAS) and may play a role in pathogenesis of other non-coding repeat expansion diseases, including spinocerebellar ataxia type 8 (SCA8), SCA10, SCA12 and Huntington disease-like 2." @default.
- W1567869942 created "2016-06-24" @default.
- W1567869942 creator A5000798743 @default.
- W1567869942 creator A5001595071 @default.
- W1567869942 creator A5027548043 @default.
- W1567869942 creator A5073395129 @default.
- W1567869942 date "2006-01-01" @default.
- W1567869942 modified "2023-10-14" @default.
- W1567869942 title "Dominant Non-Coding Repeat Expansions in Human Disease" @default.
- W1567869942 cites W1489640077 @default.
- W1567869942 cites W1513749224 @default.
- W1567869942 cites W1523020113 @default.
- W1567869942 cites W1524922819 @default.
- W1567869942 cites W1529033410 @default.
- W1567869942 cites W1529439802 @default.
- W1567869942 cites W1555409852 @default.
- W1567869942 cites W1556016736 @default.
- W1567869942 cites W1575708112 @default.
- W1567869942 cites W1964141302 @default.
- W1567869942 cites W1966849450 @default.
- W1567869942 cites W1967200471 @default.
- W1567869942 cites W1971507786 @default.
- W1567869942 cites W1974277212 @default.
- W1567869942 cites W1974377677 @default.
- W1567869942 cites W1983982852 @default.
- W1567869942 cites W1984975190 @default.
- W1567869942 cites W1988498459 @default.
- W1567869942 cites W1990059209 @default.
- W1567869942 cites W1990078607 @default.
- W1567869942 cites W1994674028 @default.
- W1567869942 cites W1996663995 @default.
- W1567869942 cites W2006483545 @default.
- W1567869942 cites W2006888676 @default.
- W1567869942 cites W2008929289 @default.
- W1567869942 cites W2010962019 @default.
- W1567869942 cites W2010997388 @default.
- W1567869942 cites W2015699295 @default.
- W1567869942 cites W2019848338 @default.
- W1567869942 cites W2020334159 @default.
- W1567869942 cites W2026025236 @default.
- W1567869942 cites W2028414949 @default.
- W1567869942 cites W2032897530 @default.
- W1567869942 cites W2038354607 @default.
- W1567869942 cites W2045131720 @default.
- W1567869942 cites W2045953719 @default.
- W1567869942 cites W2050703831 @default.
- W1567869942 cites W2060824936 @default.
- W1567869942 cites W2063685191 @default.
- W1567869942 cites W2073289591 @default.
- W1567869942 cites W2081219383 @default.
- W1567869942 cites W2081280332 @default.
- W1567869942 cites W2081748748 @default.
- W1567869942 cites W2084548137 @default.
- W1567869942 cites W2093889952 @default.
- W1567869942 cites W2094590125 @default.
- W1567869942 cites W2095324056 @default.
- W1567869942 cites W2099039583 @default.
- W1567869942 cites W2099117011 @default.
- W1567869942 cites W2101422224 @default.
- W1567869942 cites W2103116226 @default.
- W1567869942 cites W2106707821 @default.
- W1567869942 cites W2109436341 @default.
- W1567869942 cites W2112194054 @default.
- W1567869942 cites W2113918626 @default.
- W1567869942 cites W2118428181 @default.
- W1567869942 cites W2119080469 @default.
- W1567869942 cites W2119240562 @default.
- W1567869942 cites W2121560414 @default.
- W1567869942 cites W2122115272 @default.
- W1567869942 cites W2122776931 @default.
- W1567869942 cites W2123356145 @default.
- W1567869942 cites W2127487162 @default.
- W1567869942 cites W2129286776 @default.
- W1567869942 cites W2131948930 @default.
- W1567869942 cites W2132852866 @default.
- W1567869942 cites W2135809925 @default.
- W1567869942 cites W2136805485 @default.
- W1567869942 cites W2137944938 @default.
- W1567869942 cites W2140188816 @default.
- W1567869942 cites W2141124826 @default.
- W1567869942 cites W2141639194 @default.
- W1567869942 cites W2143106924 @default.
- W1567869942 cites W2143264217 @default.
- W1567869942 cites W2145800175 @default.
- W1567869942 cites W2154923740 @default.
- W1567869942 cites W2160288640 @default.
- W1567869942 cites W2167616277 @default.
- W1567869942 cites W2171373304 @default.
- W1567869942 cites W2171805190 @default.
- W1567869942 cites W2172227531 @default.
- W1567869942 doi "https://doi.org/10.1159/000092501" @default.
- W1567869942 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18724054" @default.
- W1567869942 hasPublicationYear "2006" @default.
- W1567869942 type Work @default.
- W1567869942 sameAs 1567869942 @default.
- W1567869942 citedByCount "18" @default.
- W1567869942 countsByYear W15678699422012 @default.
- W1567869942 countsByYear W15678699422013 @default.