| pubmed-article:8401578 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8401578 | lifeskim:mentions | umls-concept:C0027882 | lld:lifeskim |
| pubmed-article:8401578 | lifeskim:mentions | umls-concept:C0521449 | lld:lifeskim |
| pubmed-article:8401578 | lifeskim:mentions | umls-concept:C0033684 | lld:lifeskim |
| pubmed-article:8401578 | lifeskim:mentions | umls-concept:C0205307 | lld:lifeskim |
| pubmed-article:8401578 | lifeskim:mentions | umls-concept:C1742737 | lld:lifeskim |
| pubmed-article:8401578 | lifeskim:mentions | umls-concept:C2346714 | lld:lifeskim |
| pubmed-article:8401578 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:8401578 | pubmed:dateCreated | 1993-11-5 | lld:pubmed |
| pubmed-article:8401578 | pubmed:abstractText | Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. In patients with a full mutation, abnormal methylation results in suppression of FMR-1 transcription. FMR-1 is expressed in many tissues but its function is unknown. We have raised monoclonal antibodies specific for the FMR-1 protein. They detect 4-5 protein bands which appear identical in cells of normal males and of males carrying a premutation, but are absent in affected males with a full mutation. Immunohistochemistry shows a cytoplasmic localization of FMR-1. The highest levels were observed in neurons, while glial cells contain very low levels. In epithelial tissues, levels of FMR-1 were higher in dividing layers. In adult testis, FMR-1 was detected only in spermatogonia. FMR-1 was not detected in dermis and cardiac muscle except under pathological conditions. | lld:pubmed |
| pubmed-article:8401578 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8401578 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8401578 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8401578 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:8401578 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8401578 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8401578 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:8401578 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:8401578 | pubmed:author | pubmed-author:MandelJ LJL | lld:pubmed |
| pubmed-article:8401578 | pubmed:author | pubmed-author:LutzYY | lld:pubmed |
| pubmed-article:8401578 | pubmed:author | pubmed-author:RouyerNN | lld:pubmed |
| pubmed-article:8401578 | pubmed:author | pubmed-author:BellocqJ PJP | lld:pubmed |
| pubmed-article:8401578 | pubmed:author | pubmed-author:DevysDD | lld:pubmed |
| pubmed-article:8401578 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8401578 | pubmed:volume | 4 | lld:pubmed |
| pubmed-article:8401578 | pubmed:geneSymbol | FMR-1 | lld:pubmed |
| pubmed-article:8401578 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8401578 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8401578 | pubmed:pagination | 335-40 | lld:pubmed |
| pubmed-article:8401578 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:8401578 | pubmed:year | 1993 | lld:pubmed |
| pubmed-article:8401578 | pubmed:articleTitle | The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. | lld:pubmed |
| pubmed-article:8401578 | pubmed:affiliation | Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Unité 184 de l'INSERM, Faculté de Médecine, Strasbourg, France. | lld:pubmed |
| pubmed-article:8401578 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8401578 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:2332 | entrezgene:pubmed | pubmed-article:8401578 | lld:entrezgene |
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