Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly
about
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutationThe clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagenThe deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasiaBone growth mechanisms and the effects of cytotoxic drugs.SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI)Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagenAn RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.Human COL2A1-directed SV40 T antigen expression in transgenic and chimeric mice results in abnormal skeletal development.Molecular heterogeneity in chondrodysplasias.Molecular pathobiology of human collagens.Of mice and men: heritable skeletal disordersIdentification of a minimum enhancer sequence for the type II collagen gene reveals several core sequence motifs in common with the link protein gene.The Morphology of the Long Bone Physis in Hypochondroplasia and Comparison with Other Growth Disorders.
P2860
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P2860
Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
Kniest dysplasia is characteri ...... g in imperfect fibril assembly
@ast
Kniest dysplasia is characteri ...... g in imperfect fibril assembly
@en
type
label
Kniest dysplasia is characteri ...... g in imperfect fibril assembly
@ast
Kniest dysplasia is characteri ...... g in imperfect fibril assembly
@en
prefLabel
Kniest dysplasia is characteri ...... g in imperfect fibril assembly
@ast
Kniest dysplasia is characteri ...... g in imperfect fibril assembly
@en
P2093
P2860
P356
P1476
Kniest dysplasia is characteri ...... g in imperfect fibril assembly
@en
P2093
Hollister D
Rosenberg L
P2860
P304
P356
10.1172/JCI113356
P407
P577
1988-02-01T00:00:00Z