A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage (Q28305930)

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Language	Label	Description	Also known as
English	A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage	scientific article

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scholarly article

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A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage (English)

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based on heuristic

inferred from title

achondrogenesis type II

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based on heuristic

inferred from title

author name string

D Chan

1

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W G Cole

2

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C W Chow

3

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S Mundlos

4

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J F Bateman

5

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language of work or name

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publication date

27 January 1995

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Journal of Biological Chemistry

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270

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4

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1747-53

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Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes

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Bone dysplasia 'families'.

1 reference

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Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis

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Achondrogenesis type II, abnormalities of extracellular matrix.

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Illegitimate transcription: transcription of any gene in any cell type

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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Identification and characterization of the human type II collagen gene (COL2A1)

1 reference

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Culture and growth characteristics of chondrocytes encapsulated in alginate beads

1 reference

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Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

1 reference

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Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

1 reference

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Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens

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Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10

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Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons

1 reference

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Distribution of Cartilage Proteoglycan (Aggrecan) Core Protein and Link Protein Gene Expression during Human Skeletal Development

1 reference

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Achondrogenesis: new nosology with evidence of genetic heterogeneity

1 reference

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Effects of matrix macromolecules on chondrocyte gene expression: synthesis of a low molecular weight collagen species by cells cultured within collagen gels

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Identification and partial characterization of three low-molecular-weight collagenous polypeptides synthesized by chondrocytes cultured within collagen gels in the absence and in the presence of fibronectin

1 reference

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Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

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Collagens and their abnormalities in a wide spectrum of diseases

1 reference

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A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

1 reference

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The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis

1 reference

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Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia

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Rapid and quantitative preparation of cytoplasmic RNA from small numbers of cells

1 reference

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Type X collagen expression in osteoarthritic and rheumatoid articular cartilage

1 reference

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A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia

1 reference

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21 January 2018

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10.1074/JBC.270.4.1747

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