| pubmed-article:3195588 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:3195588 | lifeskim:mentions | umls-concept:C0020792 | lld:lifeskim |
| pubmed-article:3195588 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:3195588 | lifeskim:mentions | umls-concept:C0009331 | lld:lifeskim |
| pubmed-article:3195588 | lifeskim:mentions | umls-concept:C0205161 | lld:lifeskim |
| pubmed-article:3195588 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:3195588 | pubmed:dateCreated | 1989-1-4 | lld:pubmed |
| pubmed-article:3195588 | pubmed:abstractText | We have extended the study of a mild case of type II achondrogenesis-hypochondrogenesis to include biochemical analyses of cartilage, bone, and the collagens produced by dermal fibroblasts. Type I collagen extracted from bone and types I and III collagen produced by dermal fibroblasts were normal, as was the hexosamine ratio of cartilage proteoglycans. Hyaline cartilage, however, contained approximately equal amounts of types I and II collagen and decreased amounts of type XI collagen. Unlike the normal SDS-PAGE mobility. Two-dimensional SDS-PAGE revealed extensive overmodification of all type II cyanogen bromide peptides in a pattern consistent with heterozygosity for an abnormal pro alpha 1(II) chain which impaired the assembly and/or folding of type II collagen. This interpretation implies that dominant mutations of the COL2A1 gene may cause type II achondrogenesis-hypochondrogenesis. More generally, emerging data implicating defects of type II collagen in the type II achondrogenesis-hypochondrogenesis-spondyloepiphyseal dysplasia congenita spectrum and in the Kniest-Stickler syndrome spectrum suggest that diverse mutations of this gene may be associated with widely differing phenotypic outcome. | lld:pubmed |
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| pubmed-article:3195588 | pubmed:language | eng | lld:pubmed |
| pubmed-article:3195588 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3195588 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:3195588 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:3195588 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:3195588 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:3195588 | pubmed:author | pubmed-author:HollisterD... | lld:pubmed |
| pubmed-article:3195588 | pubmed:author | pubmed-author:GodfreyMM | lld:pubmed |
| pubmed-article:3195588 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:3195588 | pubmed:volume | 43 | lld:pubmed |
| pubmed-article:3195588 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:3195588 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:3195588 | pubmed:pagination | 904-13 | lld:pubmed |
| pubmed-article:3195588 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:3195588 | pubmed:year | 1988 | lld:pubmed |
| pubmed-article:3195588 | pubmed:articleTitle | Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. | lld:pubmed |
| pubmed-article:3195588 | pubmed:affiliation | Shriners Hospital for Crippled Children, Portland, OR 97201. | lld:pubmed |
| pubmed-article:3195588 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:3195588 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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