| pubmed-article:11751690 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11751690 | lifeskim:mentions | umls-concept:C0017347 | lld:lifeskim |
| pubmed-article:11751690 | lifeskim:mentions | umls-concept:C0041408 | lld:lifeskim |
| pubmed-article:11751690 | lifeskim:mentions | umls-concept:C1420041 | lld:lifeskim |
| pubmed-article:11751690 | lifeskim:mentions | umls-concept:C1336776 | lld:lifeskim |
| pubmed-article:11751690 | lifeskim:mentions | umls-concept:C0205369 | lld:lifeskim |
| pubmed-article:11751690 | lifeskim:mentions | umls-concept:C2700640 | lld:lifeskim |
| pubmed-article:11751690 | pubmed:issue | 26 | lld:pubmed |
| pubmed-article:11751690 | pubmed:dateCreated | 2001-12-25 | lld:pubmed |
| pubmed-article:11751690 | pubmed:abstractText | Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS) and has recently been implicated in additional skeletal malformations frequently observed in Turner syndrome. To enhance our understanding of the underlying mechanism of action, we have established a cell culture model consisting of four stably transfected cell lines and analysed the functional properties of the SHOX protein on a molecular level. Results show that the SHOX-encoded protein is located exclusively within the nucleus of a variety of cell lines, including U2Os, HEK293, COS7 and NIH 3T3 cells. In contrast to this cell-type independent nuclear translocation, the transactivating potential of the SHOX protein on different luciferase reporter constructs was observed only in the osteogenic cell line U2Os. Since C-terminally truncated forms of SHOX lead to LWS and idiopathic short stature, we have compared the activity of wild-type and truncated SHOX proteins. Interestingly, C-terminally truncated SHOX proteins are inactive with regards to target gene activation. These results for the first time provide an explanation of SHOX-related phenotypes on a molecular level and suggest the existence of qualitative trait loci modulating SHOX activity in a cell-type specific manner. | lld:pubmed |
| pubmed-article:11751690 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11751690 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11751690 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11751690 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:11751690 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11751690 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:11751690 | pubmed:issn | 0964-6906 | lld:pubmed |
| pubmed-article:11751690 | pubmed:author | pubmed-author:WuW DWD | lld:pubmed |
| pubmed-article:11751690 | pubmed:author | pubmed-author:MarchiniAA | lld:pubmed |
| pubmed-article:11751690 | pubmed:author | pubmed-author:RappoldG AGA | lld:pubmed |
| pubmed-article:11751690 | pubmed:author | pubmed-author:BurnettMM | lld:pubmed |
| pubmed-article:11751690 | pubmed:author | pubmed-author:BlaschkeR JRJ | lld:pubmed |
| pubmed-article:11751690 | pubmed:author | pubmed-author:NieslerBB | lld:pubmed |
| pubmed-article:11751690 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11751690 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:11751690 | pubmed:volume | 10 | lld:pubmed |
| pubmed-article:11751690 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11751690 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11751690 | pubmed:pagination | 3083-91 | lld:pubmed |
| pubmed-article:11751690 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:11751690 | pubmed:meshHeading | pubmed-meshheading:11751690... | lld:pubmed |
| pubmed-article:11751690 | pubmed:year | 2001 | lld:pubmed |
| pubmed-article:11751690 | pubmed:articleTitle | The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. | lld:pubmed |
| pubmed-article:11751690 | pubmed:affiliation | Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany. | lld:pubmed |
| pubmed-article:11751690 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11751690 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:6473 | entrezgene:pubmed | pubmed-article:11751690 | lld:entrezgene |
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