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People with 59–200 CGG·CCG-repeats in the 5′ UTR of one of their FMR1 genes are at risk for Fragile X tremor and ataxia syndrome. Females are also at risk for premature ovarian failure. These symptoms are thought to be due to the presence of the repeats at the DNA and/or RNA level. We show here that long transcribed but untranslated CGG-repeat tracts are toxic to human cells and alter the expression...
Small proline-rich (SPR) proteins are structural components of the cornified cell envelope of stratified squamous epithelia. They are subdivided into three families, i.e., SPR1, SPR2, and SPR3, of which the SPR2 family is the most complex. To understand the significance of this complexity, we have isolated 11 mouseSprr2genes, constructed a provisional physical map of theSprr2locus on mouse Chromosome...
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