| pubmed-article:19107148 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19107148 | lifeskim:mentions | umls-concept:C0242387 | lld:lifeskim |
| pubmed-article:19107148 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:19107148 | lifeskim:mentions | umls-concept:C0199176 | lld:lifeskim |
| pubmed-article:19107148 | lifeskim:mentions | umls-concept:C0699748 | lld:lifeskim |
| pubmed-article:19107148 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:19107148 | pubmed:dateCreated | 2009-2-19 | lld:pubmed |
| pubmed-article:19107148 | pubmed:abstractText | Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development that arises as the result of mutations in the TCOF1 gene, which encodes a nucleolar phosphoprotein known as Treacle. Individuals diagnosed with TCS frequently undergo multiple reconstructive surgeries, which are rarely fully corrective. Identifying potential avenues for rescue and/or repair of TCS depends on a profound appreciation of the etiology and pathogenesis of the syndrome. Recent research using animal models has not only determined the cellular basis of TCS but also, more importantly, unveiled a successful avenue for therapeutic intervention and prevention of the craniofacial anomalies observed in TCS. | lld:pubmed |
| pubmed-article:19107148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19107148 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19107148 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19107148 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19107148 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:19107148 | pubmed:issn | 1476-5438 | lld:pubmed |
| pubmed-article:19107148 | pubmed:author | pubmed-author:TrainorPaul... | lld:pubmed |
| pubmed-article:19107148 | pubmed:author | pubmed-author:DixonMichael... | lld:pubmed |
| pubmed-article:19107148 | pubmed:author | pubmed-author:DixonJillJ | lld:pubmed |
| pubmed-article:19107148 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19107148 | pubmed:volume | 17 | lld:pubmed |
| pubmed-article:19107148 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19107148 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19107148 | pubmed:pagination | 275-83 | lld:pubmed |
| pubmed-article:19107148 | pubmed:dateRevised | 2011-5-16 | lld:pubmed |
| pubmed-article:19107148 | pubmed:meshHeading | pubmed-meshheading:19107148... | lld:pubmed |
| pubmed-article:19107148 | pubmed:meshHeading | pubmed-meshheading:19107148... | lld:pubmed |
| pubmed-article:19107148 | pubmed:meshHeading | pubmed-meshheading:19107148... | lld:pubmed |
| pubmed-article:19107148 | pubmed:meshHeading | pubmed-meshheading:19107148... | lld:pubmed |
| pubmed-article:19107148 | pubmed:meshHeading | pubmed-meshheading:19107148... | lld:pubmed |
| pubmed-article:19107148 | pubmed:meshHeading | pubmed-meshheading:19107148... | lld:pubmed |
| pubmed-article:19107148 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19107148 | pubmed:articleTitle | Treacher Collins syndrome: etiology, pathogenesis and prevention. | lld:pubmed |
| pubmed-article:19107148 | pubmed:affiliation | Stowers Institute for Medical Research, Kansas City, MO 64110, USA. pat@stowers-institute.org | lld:pubmed |
| pubmed-article:19107148 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19107148 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:19107148 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
