Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1989-1-4
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.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-1261128, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-2897363, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-2981879, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3057886, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3082888, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3108247, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3112157, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3222214, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3276736, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3309860, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3341380, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3667599, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3717210, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3722184, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-3752081, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-4022126, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-4053564, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-4080742, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-437782, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-465027, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-4732855, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-4993958, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-5432063, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-5529814, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-6205818, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-6273419, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-6304100, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-6375355, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-6421277, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-6469997, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-6878687, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-6946461, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-7015914, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-7346234, http://linkedlifedata.com/resource/pubmed/commentcorrection/3195588-7458068
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
904-13
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.
pubmed:affiliation
Shriners Hospital for Crippled Children, Portland, OR 97201.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't