| pubmed-article:9774663 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9774663 | lifeskim:mentions | umls-concept:C0600253 | lld:lifeskim |
| pubmed-article:9774663 | lifeskim:mentions | umls-concept:C0025920 | lld:lifeskim |
| pubmed-article:9774663 | lifeskim:mentions | umls-concept:C0026336 | lld:lifeskim |
| pubmed-article:9774663 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:9774663 | lifeskim:mentions | umls-concept:C0017776 | lld:lifeskim |
| pubmed-article:9774663 | lifeskim:mentions | umls-concept:C0085132 | lld:lifeskim |
| pubmed-article:9774663 | lifeskim:mentions | umls-concept:C0040674 | lld:lifeskim |
| pubmed-article:9774663 | lifeskim:mentions | umls-concept:C0243102 | lld:lifeskim |
| pubmed-article:9774663 | lifeskim:mentions | umls-concept:C1517945 | lld:lifeskim |
| pubmed-article:9774663 | lifeskim:mentions | umls-concept:C0591833 | lld:lifeskim |
| pubmed-article:9774663 | pubmed:issue | 11 | lld:pubmed |
| pubmed-article:9774663 | pubmed:dateCreated | 1998-11-23 | lld:pubmed |
| pubmed-article:9774663 | pubmed:abstractText | The severity of human mucopolysaccharidosis type VII (MPS VII), or Sly syndrome, depends on the relative activity of the enzyme beta-glucuronidase. Loss of beta-glucuronidase activity can cause hydrops fetalis, with in utero or postnatal death of the patient. In this report, we show that beta-glucuronidase activity is not detectable by a standard fluorometric assay in C3H/HeOuJ (C3H) mice homozygous for a new mutation, gusmps2J. These gusmps2J/gusmps2J mice are born and survive much longer than the previously characterized beta-glucuronidase-null B6.C-H-2(bm1)/ByBir-gusmps (gusmps/gusmps) mice. Northern blot analysis of liver from gusmps2J/gusmps2J mice demonstrates a 750-bp reduction in size of beta-glucuronidase mRNA. A 5.4-kb insertion in the Gus-sh nucleotide sequence from these mice was localized by Southern blot analysis to intron 8. The ends of the inserted sequences were cloned by inverse PCR and revealed an intracisternal A-particle (IAP) element inserted near the 3' end of the intron. The sequence of the long terminal repeat (LTR) regions of the IAP most closely matches that of a composite LTR found in transposed IAPs previously identified in the C3H strain. The inserted IAP may contribute to diminished beta-glucuronidase activity either by interfering with transcription or by destabilizing the message. The resulting phenotype is much less severe than that previously described in the gusmps/gusmps mouse and provides an opportunity to study MPS VII on a genetic background that clearly modulates disease severity. | lld:pubmed |
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| pubmed-article:9774663 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9774663 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9774663 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9774663 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:9774663 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9774663 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:9774663 | pubmed:issn | 0270-7306 | lld:pubmed |
| pubmed-article:9774663 | pubmed:author | pubmed-author:BirkenmeierE... | lld:pubmed |
| pubmed-article:9774663 | pubmed:author | pubmed-author:SandsM SMS | lld:pubmed |
| pubmed-article:9774663 | pubmed:author | pubmed-author:GwynnBB | lld:pubmed |
| pubmed-article:9774663 | pubmed:author | pubmed-author:LuedersKK | lld:pubmed |
| pubmed-article:9774663 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9774663 | pubmed:volume | 18 | lld:pubmed |
| pubmed-article:9774663 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9774663 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9774663 | pubmed:pagination | 6474-81 | lld:pubmed |
| pubmed-article:9774663 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:9774663 | pubmed:meshHeading | pubmed-meshheading:9774663-... | lld:pubmed |
| pubmed-article:9774663 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9774663 | pubmed:articleTitle | Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse. | lld:pubmed |
| pubmed-article:9774663 | pubmed:affiliation | The Jackson Laboratory, Bar Harbor, Maine 04609, USA. bfg@artha.jax.org | lld:pubmed |
