| pubmed-article:20118148 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C0456603 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C0017262 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C0002085 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C1414649 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C0025723 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C1707520 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C2745888 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C1879547 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C2911684 | lld:lifeskim |
| pubmed-article:20118148 | lifeskim:mentions | umls-concept:C0185117 | lld:lifeskim |
| pubmed-article:20118148 | pubmed:issue | 8 | lld:pubmed |
| pubmed-article:20118148 | pubmed:dateCreated | 2010-3-29 | lld:pubmed |
| pubmed-article:20118148 | pubmed:abstractText | The fragile X syndrome (FXS) is caused by silencing of the fragile X mental retardation gene (FMR1) and the absence of its product, fragile X mental retardation protein (FMRP), resulting from CpG island methylation associated with large CGG repeat expansions (more than 200) termed full mutation (FM). We have identified a number of novel epigenetic markers for FXS using matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS), naming the most informative fragile X-related epigenetic element 1 (FREE1) and 2 (FREE2). Methylation of both regions was correlated with that of the FMR1 CpG island detected using Southern blot (FREE1 R = 0.97; P < 0.00001, n = 23 and FREE2 R = 0.93; P < 0.00001, n = 23) and negatively correlated with lymphocyte expression of FMRP (FREE1 R = -0.62; P = 0.01, n = 15 and FREE2 R = -0.55; P = 0.03, n = 15) in blood of partially methylated 'high functioning' FM males. In blood of FM carrier females, methylation of both markers was inversely correlated with the FMR1 activation ratio (FREE1 R = -0.93; P < 0.0001, n = 12 and FREE2 R = -0.95; P < 0.0001, n = 9). In a sample set of 49 controls, 18 grey zone (GZ 40-54 repeats), 22 premutation (PM 55-170 repeats) and 22 (affected) FXS subjects, the FREE1 methylation pattern was consistent between blood and chorionic villi as a marker of methylated FM alleles and could be used to differentiate FXS males and females from controls, as well as from carriers of GZ/PM alleles, but not between GZ and PM alleles and controls. Considering its high-throughput and specificity for pathogenic FM alleles, low cost and minimal DNA requirements, FREE MALDI-TOF MS offers a unique tool in FXS diagnostics and newborn population screening. | lld:pubmed |
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| pubmed-article:20118148 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20118148 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20118148 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20118148 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20118148 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20118148 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20118148 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:20118148 | pubmed:issn | 1460-2083 | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:ChooK HKH | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:EvansAndrewA | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:TassoneFloraF | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:BurgessTrentT | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:Ganesamoorthy... | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:GordonLavinia... | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:GehlingFreyaF | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:GodlerDavid... | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:LoeschDanuta... | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:TaylorAnnette... | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:HagermanRandi... | lld:pubmed |
| pubmed-article:20118148 | pubmed:author | pubmed-author:HennerichDebb... | lld:pubmed |
