| pubmed-article:11326333 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11326333 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:11326333 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:11326333 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:11326333 | lifeskim:mentions | umls-concept:C0220776 | lld:lifeskim |
| pubmed-article:11326333 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:11326333 | lifeskim:mentions | umls-concept:C0034897 | lld:lifeskim |
| pubmed-article:11326333 | lifeskim:mentions | umls-concept:C1427889 | lld:lifeskim |
| pubmed-article:11326333 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:11326333 | pubmed:dateCreated | 2001-6-22 | lld:pubmed |
| pubmed-article:11326333 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11326333 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11326333 | pubmed:abstractText | Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by mild-to-moderate short stature and early-onset osteoarthritis. Both autosomal and X-linked forms have been described. Elsewhere, we have reported the identification of the gene for the X-linked recessive form, which maps to Xp22.2. We now report characterization of an exon-skipping mutation (IVS3+5G-->A at the intron 3 splice-donor site) in two unrelated families with SEDL. Using reverse transcriptase (RT)-PCR, we demonstrated that the mutation resulted in elimination of the first 31 codons of the open reading frame. The mutation was not detected in 120 control X chromosomes. Articular cartilage from an adult who had SEDL and carried this mutation contained chondrocytes with abundant Golgi complexes and dilated rough endoplasmic reticulum (ER). RT-PCR experiments using mouse/human cell hybrids revealed that the SEDL gene escapes X inactivation. Homologues of the SEDL gene include a transcribed retropseudogene on chromosome 19, as well as expressed genes in mouse, rat, Drosophila melanogaster Caenorhabditis elegans, and Saccharomyces cerevisiae. The latter homologue, p20, has a putative role in vesicular transport from ER to Golgi complex. These data suggest that SEDL mutations may perturb an intracellular pathway that is important for cartilage homeostasis. | lld:pubmed |
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| pubmed-article:11326333 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11326333 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11326333 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11326333 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:11326333 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11326333 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:11326333 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:11326333 | pubmed:author | pubmed-author:WilcoxW RWR | lld:pubmed |
| pubmed-article:11326333 | pubmed:author | pubmed-author:HannigV LVL | lld:pubmed |
| pubmed-article:11326333 | pubmed:author | pubmed-author:HainesJ LJL | lld:pubmed |
| pubmed-article:11326333 | pubmed:author | pubmed-author:GedeonA KAK | lld:pubmed |
| pubmed-article:11326333 | pubmed:author | pubmed-author:MundlosSS | lld:pubmed |
| pubmed-article:11326333 | pubmed:author | pubmed-author:GeczJJ | lld:pubmed |
| pubmed-article:11326333 | pubmed:author | pubmed-author:TillerG EGE | lld:pubmed |
| pubmed-article:11326333 | pubmed:author | pubmed-author:CarrelLL | lld:pubmed |
| pubmed-article:11326333 | pubmed:author | pubmed-author:DozierDD | lld:pubmed |
| pubmed-article:11326333 | pubmed:author | pubmed-author:TrevarthenK... | lld:pubmed |
| pubmed-article:11326333 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11326333 | pubmed:volume | 68 | lld:pubmed |
| pubmed-article:11326333 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11326333 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11326333 | pubmed:pagination | 1398-407 | lld:pubmed |
| pubmed-article:11326333 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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