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- W2051219679 startingPage "153" @default.
- W2051219679 abstract "Taxonomic features of fragile X syndrome (FXS) associated with the fragile X mutation have evolved over several decades. Males are more severely impacted cognitively than females, but both show declines in IQ scores as they age. Although many males with FXS exhibit autistic-like features, autism does not occur more frequently in males with FXS than among males with mental retardation (MR). FXS is caused by inactivation of the FMR1 gene located on Xq27.3. FMRP, the protein produced by FMR1, has been detected in most organs and in brain. In cells, it is located primarily in cytoplasm and contains motifs found in RNA-binding proteins. The FMRP N-terminal contains a functional nuclear localization signal which permits the protein to shuttle between cytoplasm and nucleus. FMR1 knockout mice show subtle behavioral and visual-spatial difficulties. Analysis of their brain tissue suggests absence of FMRP impairs synaptic maturation. Individuals with the fragile premutation produce FMRP, and the phenotype associated with the premutation has been controversial. However, there seems to be a higher incidence of premature ovarian failure in women with the premutation than is found in the general female population. This may be related to unusual increases in mRNA levels in premutation carriers. Am. J. Med. Genet. (Semin. Med. Genet.) 97:153–163, 2000. © 2000 Wiley-Liss, Inc." @default.
- W2051219679 created "2016-06-24" @default.
- W2051219679 creator A5013587879 @default.
- W2051219679 creator A5029347691 @default.
- W2051219679 creator A5076646244 @default.
- W2051219679 date "2000-01-01" @default.
- W2051219679 modified "2023-10-12" @default.
- W2051219679 title "FMR1 gene and fragile X syndrome" @default.
- W2051219679 cites W1564811764 @default.
- W2051219679 cites W1574171251 @default.
- W2051219679 cites W1725439500 @default.
- W2051219679 cites W1964448695 @default.
- W2051219679 cites W1972805559 @default.
- W2051219679 cites W1974810696 @default.
- W2051219679 cites W1981967145 @default.
- W2051219679 cites W1982124514 @default.
- W2051219679 cites W1986249710 @default.
- W2051219679 cites W1987718203 @default.
- W2051219679 cites W1995301544 @default.
- W2051219679 cites W1997975229 @default.
- W2051219679 cites W1999715807 @default.
- W2051219679 cites W1999730046 @default.
- W2051219679 cites W2000749280 @default.
- W2051219679 cites W2001588996 @default.
- W2051219679 cites W2002760096 @default.
- W2051219679 cites W2004002317 @default.
- W2051219679 cites W2005078842 @default.
- W2051219679 cites W2013110211 @default.
- W2051219679 cites W2013725339 @default.
- W2051219679 cites W2014102314 @default.
- W2051219679 cites W2020041651 @default.
- W2051219679 cites W2020334159 @default.
- W2051219679 cites W2022257681 @default.
- W2051219679 cites W2022959185 @default.
- W2051219679 cites W2022983438 @default.
- W2051219679 cites W2025447933 @default.
- W2051219679 cites W2031571225 @default.
- W2051219679 cites W2032742941 @default.
- W2051219679 cites W2032785100 @default.
- W2051219679 cites W2033057991 @default.
- W2051219679 cites W2033790967 @default.
- W2051219679 cites W2035086198 @default.
- W2051219679 cites W2035409177 @default.
- W2051219679 cites W2036338927 @default.
- W2051219679 cites W2037749092 @default.
- W2051219679 cites W2039840132 @default.
- W2051219679 cites W2040306383 @default.
- W2051219679 cites W2042348622 @default.
- W2051219679 cites W2044558449 @default.
- W2051219679 cites W2048218525 @default.
- W2051219679 cites W2060155788 @default.
- W2051219679 cites W2061795784 @default.
- W2051219679 cites W2066398640 @default.
- W2051219679 cites W2067324242 @default.
- W2051219679 cites W2069112604 @default.
- W2051219679 cites W2071471236 @default.
- W2051219679 cites W2074053990 @default.
- W2051219679 cites W2075344525 @default.
- W2051219679 cites W2076771828 @default.
- W2051219679 cites W2078277232 @default.
- W2051219679 cites W2079496451 @default.
- W2051219679 cites W2079786972 @default.
- W2051219679 cites W2080399626 @default.
- W2051219679 cites W2082916410 @default.
- W2051219679 cites W2083554523 @default.
- W2051219679 cites W2083821124 @default.
- W2051219679 cites W2084547117 @default.
- W2051219679 cites W2090819362 @default.
- W2051219679 cites W2091926916 @default.
- W2051219679 cites W2092479476 @default.
- W2051219679 cites W2093546477 @default.
- W2051219679 cites W2094181408 @default.
- W2051219679 cites W2094847130 @default.
- W2051219679 cites W2100505524 @default.
- W2051219679 cites W2106239245 @default.
- W2051219679 cites W2106707821 @default.
- W2051219679 cites W2110395594 @default.
- W2051219679 cites W2111354983 @default.
- W2051219679 cites W2114955795 @default.
- W2051219679 cites W2115306800 @default.
- W2051219679 cites W2116996762 @default.
- W2051219679 cites W2117342187 @default.
- W2051219679 cites W2118593615 @default.
- W2051219679 cites W2122254636 @default.
- W2051219679 cites W2125214788 @default.
- W2051219679 cites W2125366349 @default.
- W2051219679 cites W2127453064 @default.
- W2051219679 cites W2132943956 @default.
- W2051219679 cites W2133681744 @default.
- W2051219679 cites W2137391937 @default.
- W2051219679 cites W2138160337 @default.
- W2051219679 cites W2140382995 @default.
- W2051219679 cites W2141879597 @default.
- W2051219679 cites W2144995800 @default.
- W2051219679 cites W2145655385 @default.
- W2051219679 cites W2151282569 @default.
- W2051219679 cites W2151285111 @default.
- W2051219679 cites W2152268460 @default.