| pubmed-article:11754049 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11754049 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:11754049 | lifeskim:mentions | umls-concept:C0175693 | lld:lifeskim |
| pubmed-article:11754049 | lifeskim:mentions | umls-concept:C0596611 | lld:lifeskim |
| pubmed-article:11754049 | lifeskim:mentions | umls-concept:C1417122 | lld:lifeskim |
| pubmed-article:11754049 | lifeskim:mentions | umls-concept:C0332125 | lld:lifeskim |
| pubmed-article:11754049 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:11754049 | pubmed:dateCreated | 2001-12-25 | lld:pubmed |
| pubmed-article:11754049 | pubmed:abstractText | Silver-Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been reported in some SRS patients. PEG1/MEST is an imprinted gene on chromosome 7q32 that is expressed only from the paternal allele and is a candidate gene for SRS. To clarify its biological function and role in SRS, we screened PEG1/MEST abnormalities in 15 SRS patients from various standpoints. In the lymphocytes of SRS patients, no aberrant expression patterns of two splice variants (alpha and beta) of PEG1/MEST were detected when they were compared with normal samples. Direct sequence analysis failed to detect any mutations in the PEG1/MEST alpha coding region, and there were no significant mutations in the 5'-flanking upstream region containing the predicted promoter and the highly conserved human/mouse genomic region. Differential methylation patterns of the CpG island for PEG1/MEST alpha were normally maintained and resulted in the same pattern as in the normal control, suggesting that there was no loss of imprinting. These findings suggest that PEG1/MEST can be excluded as a major determinant of SRS. | lld:pubmed |
| pubmed-article:11754049 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11754049 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11754049 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11754049 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11754049 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11754049 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11754049 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11754049 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:11754049 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:KobayashiSS | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:YamadaMM | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:OhashiHH | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:TanakaTT | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:ImaizumiKK | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:NiikawaNN | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:NagaiTT | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:ChinenYY | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:NaritomiKK | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:UemuraHH | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:SugieSS | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:KohdaTT | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:TsukaharaMM | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:TonokiHH | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:TsutsumiOO | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:IshinoFF | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:Kaneko-Ishino... | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:KishinoTT | lld:pubmed |
| pubmed-article:11754049 | pubmed:author | pubmed-author:KinoshitaE... | lld:pubmed |
| pubmed-article:11754049 | pubmed:copyrightInfo | Copyright 2001 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:11754049 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11754049 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:11754049 | pubmed:volume | 104 | lld:pubmed |
| pubmed-article:11754049 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11754049 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11754049 | pubmed:pagination | 225-31 | lld:pubmed |
| pubmed-article:11754049 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:11754049 | pubmed:meshHeading | pubmed-meshheading:11754049... | lld:pubmed |
| pubmed-article:11754049 | pubmed:year | 2001 | lld:pubmed |
| pubmed-article:11754049 | pubmed:articleTitle | No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. | lld:pubmed |
| pubmed-article:11754049 | pubmed:affiliation | Gene Research Center, Tokyo Institute of Technology, 4259 Nagatsuka-cho, Midori-ku, Yokohama 226-8501, Japan. | lld:pubmed |
| pubmed-article:11754049 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11754049 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:4232 | entrezgene:pubmed | pubmed-article:11754049 | lld:entrezgene |
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