Literature DB >> 8402427

Connective tissue disease: closing on the threshold.

A Robinson.   

Abstract

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Year:  1993        PMID： 8402427      PMCID： PMC1485594     

Source DB:  PubMed          Journal:  CMAJ        ISSN： 0820-3946            Impact factor:   8.262


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  8 in total

1.  The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.

Authors:  W G Cole; P E Campbell; J G Rogers; J F Bateman
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.

Authors:  W G Cole; D Chan; G W Chambers; I D Walker; J F Bateman
Journal:  J Biol Chem       Date:  1986-04-25       Impact factor: 5.157

3.  A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.

Authors:  A A Chiodo; A Hockey; W G Cole
Journal:  J Biol Chem       Date:  1992-03-25       Impact factor: 5.157

4.  The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.

Authors:  W G Cole; E Patterson; J Bonadio; P E Campbell; D W Fortune
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

5.  A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

Authors:  W G Cole; A A Chiodo; S R Lamande; R Janeczko; F Ramirez; H H Dahl; D Chan; J F Bateman
Journal:  J Biol Chem       Date:  1990-10-05       Impact factor: 5.157

6.  Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta.

Authors:  J F Bateman; S R Lamande; M Hannagan; I Moeller; H H Dahl; W G Cole
Journal:  Am J Med Genet       Date:  1993-01-15

7.  Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.

Authors:  D Chan; W G Cole
Journal:  J Biol Chem       Date:  1991-07-05       Impact factor: 5.157

8.  Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene.

Authors:  A Stacey; J Bateman; T Choi; T Mascara; W Cole; R Jaenisch
Journal:  Nature       Date:  1988-03-10       Impact factor: 49.962
  8 in total

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