| pubmed-article:8723723 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8723723 | lifeskim:mentions | umls-concept:C0025914 | lld:lifeskim |
| pubmed-article:8723723 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:8723723 | lifeskim:mentions | umls-concept:C0558242 | lld:lifeskim |
| pubmed-article:8723723 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:8723723 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:8723723 | lifeskim:mentions | umls-concept:C1414542 | lld:lifeskim |
| pubmed-article:8723723 | lifeskim:mentions | umls-concept:C0332597 | lld:lifeskim |
| pubmed-article:8723723 | lifeskim:mentions | umls-concept:C0075804 | lld:lifeskim |
| pubmed-article:8723723 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:8723723 | pubmed:dateCreated | 1996-9-17 | lld:pubmed |
| pubmed-article:8723723 | pubmed:abstractText | Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules. These and other connective tissue abnormalities have made Tskl + mice models for scleroderma, hereditary emphysema, and myocardial hypertrophy. Previously we localized Tsk to mouse chromosome 2 in a region syntenic with human chromosome 15. The microfibrillar glycoprotein gene, fibrillin 1 (FBN1), on human chromosome 15q, provided a candidate for the Tsk mutation. We now demonstrate that the Tsk chromosome harbors a 30- to 40-kb genomic duplication within the Fbn1 gene that results in a larger than normal in-frame Fbn1 transcript. These findings provide hypotheses to explain some of the phenotypic characteristics of Tskl + mice and the lethality of Tsk/Tsk embryos. | lld:pubmed |
| pubmed-article:8723723 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:8723723 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8723723 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8723723 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8723723 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8723723 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:8723723 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8723723 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8723723 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:8723723 | pubmed:issn | 1088-9051 | lld:pubmed |
| pubmed-article:8723723 | pubmed:author | pubmed-author:JimenezS ASA | lld:pubmed |
| pubmed-article:8723723 | pubmed:author | pubmed-author:MOGG | lld:pubmed |
| pubmed-article:8723723 | pubmed:author | pubmed-author:ChristnerP... | lld:pubmed |
| pubmed-article:8723723 | pubmed:author | pubmed-author:McGrathRR | lld:pubmed |
| pubmed-article:8723723 | pubmed:author | pubmed-author:ManneJJ | lld:pubmed |
| pubmed-article:8723723 | pubmed:author | pubmed-author:BuchbergA MAM | lld:pubmed |
| pubmed-article:8723723 | pubmed:author | pubmed-author:SiracusaL DLD | lld:pubmed |
| pubmed-article:8723723 | pubmed:author | pubmed-author:MoskowJ JJJ | lld:pubmed |
| pubmed-article:8723723 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8723723 | pubmed:volume | 6 | lld:pubmed |
| pubmed-article:8723723 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8723723 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8723723 | pubmed:pagination | 300-13 | lld:pubmed |
| pubmed-article:8723723 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:8723723 | pubmed:meshHeading | pubmed-meshheading:8723723-... | lld:pubmed |
| pubmed-article:8723723 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8723723 | pubmed:articleTitle | A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. | lld:pubmed |
| pubmed-article:8723723 | pubmed:affiliation | Department of Microbiology and Immunology, Jefferson Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107-5541, USA. siracusa@lac.jci.tju.edu | lld:pubmed |
| pubmed-article:8723723 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8723723 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:8723723 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:14118 | entrezgene:pubmed | pubmed-article:8723723 | lld:entrezgene |
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