Matches in SemOpenAlex for { <https://semopenalex.org/work/W2065835146> ?p ?o ?g. }
- W2065835146 endingPage "2808" @default.
- W2065835146 startingPage "2797" @default.
- W2065835146 abstract "Abstract Epigenetics refers to the study of heritable changes in gene expression that occur without a change in DNA sequence. Epigenetic mechanisms therefore include all transcriptional controls that determine how genes are expressed during development and differentiation, but also in individual cells responding to environmental stimuli. The purpose of this review is to examine the basic principles of epigenetic mechanisms and their contribution to human disorders with a particular focus on fragile X syndrome (FXS), the most common monogenic form of developmental cognitive impairment. FXS represents a prototype of the so‐called repeat expansion disorders due to “dynamic” mutations, namely the expansion (known as “full mutation”) of a CGG repeat in the 5′UTR of the FMR1 gene. This genetic anomaly is accompanied by epigenetic modifications (mainly DNA methylation and histone deacetylation), resulting in the inactivation of the FMR1 gene. The presence of an intact FMR1 coding sequence allowed pharmacological reactivation of gene transcription, particularly through the use of the DNA demethylating agent 5′‐aza‐2′‐deoxycytydine and/or inhibitors of histone deacetylases. These treatments suggested that DNA methylation is dominant over histone acetylation in silencing the FMR1 gene. The importance of DNA methylation in repressing FMR1 transcription is confirmed by the existence of rare unaffected males carrying unmethylated full mutations. Finally, we address the potential use of epigenetic approaches to targeted treatment of other genetic conditions. © 2013 Wiley Periodicals, Inc." @default.
- W2065835146 created "2016-06-24" @default.
- W2065835146 creator A5024021695 @default.
- W2065835146 creator A5050835352 @default.
- W2065835146 date "2013-10-03" @default.
- W2065835146 modified "2023-10-03" @default.
- W2065835146 title "Epigenetics, fragile X syndrome and transcriptional therapy" @default.
- W2065835146 cites W1484293540 @default.
- W2065835146 cites W1559742681 @default.
- W2065835146 cites W1643390591 @default.
- W2065835146 cites W1647075334 @default.
- W2065835146 cites W1652583010 @default.
- W2065835146 cites W1784857457 @default.
- W2065835146 cites W1821797507 @default.
- W2065835146 cites W1964302569 @default.
- W2065835146 cites W1973888286 @default.
- W2065835146 cites W1975105273 @default.
- W2065835146 cites W1975728749 @default.
- W2065835146 cites W1978217421 @default.
- W2065835146 cites W1982946759 @default.
- W2065835146 cites W1985775217 @default.
- W2065835146 cites W1988498459 @default.
- W2065835146 cites W1990125516 @default.
- W2065835146 cites W1991395192 @default.
- W2065835146 cites W1996128764 @default.
- W2065835146 cites W1997453048 @default.
- W2065835146 cites W1998517881 @default.
- W2065835146 cites W2001319028 @default.
- W2065835146 cites W2001588996 @default.
- W2065835146 cites W2002698073 @default.
- W2065835146 cites W2007684630 @default.
- W2065835146 cites W2008333108 @default.
- W2065835146 cites W2011813973 @default.
- W2065835146 cites W2015132841 @default.
- W2065835146 cites W2016302314 @default.
- W2065835146 cites W2019904951 @default.
- W2065835146 cites W2020291003 @default.
- W2065835146 cites W2023113347 @default.
- W2065835146 cites W2025025319 @default.
- W2065835146 cites W2030795821 @default.
- W2065835146 cites W2031123443 @default.
- W2065835146 cites W2031785254 @default.
- W2065835146 cites W2032436286 @default.
- W2065835146 cites W2032882684 @default.
- W2065835146 cites W2034403814 @default.
- W2065835146 cites W2035026471 @default.
- W2065835146 cites W2035218401 @default.
- W2065835146 cites W2036324252 @default.
- W2065835146 cites W2038720758 @default.
- W2065835146 cites W2039785798 @default.
- W2065835146 cites W2040118711 @default.
- W2065835146 cites W2047362927 @default.
- W2065835146 cites W2047573503 @default.
- W2065835146 cites W2047901053 @default.
- W2065835146 cites W2048005397 @default.
- W2065835146 cites W2048834720 @default.
- W2065835146 cites W2049668866 @default.
- W2065835146 cites W2051013729 @default.
- W2065835146 cites W2052031191 @default.
- W2065835146 cites W2053101138 @default.
- W2065835146 cites W2062211740 @default.
- W2065835146 cites W2069281865 @default.
- W2065835146 cites W2073421573 @default.
- W2065835146 cites W2078717408 @default.
- W2065835146 cites W2082058303 @default.
- W2065835146 cites W2084264548 @default.
- W2065835146 cites W2084547117 @default.
- W2065835146 cites W2085880427 @default.
- W2065835146 cites W2087016730 @default.
- W2065835146 cites W2089253191 @default.
- W2065835146 cites W2089579982 @default.
- W2065835146 cites W2092761963 @default.
- W2065835146 cites W2093533550 @default.
- W2065835146 cites W2094192094 @default.
- W2065835146 cites W2095105334 @default.
- W2065835146 cites W2097539804 @default.
- W2065835146 cites W2101481997 @default.
- W2065835146 cites W2103131923 @default.
- W2065835146 cites W2103709346 @default.
- W2065835146 cites W2106482095 @default.
- W2065835146 cites W2107038650 @default.
- W2065835146 cites W2107626432 @default.
- W2065835146 cites W2111714867 @default.
- W2065835146 cites W2113081921 @default.
- W2065835146 cites W2113501697 @default.
- W2065835146 cites W2114970231 @default.
- W2065835146 cites W2119190413 @default.
- W2065835146 cites W2119787118 @default.
- W2065835146 cites W2121012521 @default.
- W2065835146 cites W2121082106 @default.
- W2065835146 cites W2124161234 @default.
- W2065835146 cites W2129354442 @default.
- W2065835146 cites W2130558981 @default.
- W2065835146 cites W2136243961 @default.
- W2065835146 cites W2136682839 @default.
- W2065835146 cites W2136905998 @default.
- W2065835146 cites W2137391937 @default.
- W2065835146 cites W2138151979 @default.