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Journal Abstract Search

331 related items for PubMed ID: 1642148

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  • 2. A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.
    Filie JD, Orrison BM, Wang Q, Lewis MB, Marini JC.
    Hum Mutat; 1993; 2(5):380-8. PubMed ID: 8257992
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  • 3. Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.
    Bateman JF, Moeller I, Hannagan M, Chan D, Cole WG.
    Hum Mutat; 1992; 1(1):55-62. PubMed ID: 1284475
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  • 4. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
    Edwards MJ, Wenstrup RJ, Byers PH, Cohn DH.
    Hum Mutat; 1992; 1(1):47-54. PubMed ID: 1301191
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  • 10. Characterization of type II and type XI collagen synthesis by an immortalized rat chondrocyte cell line (IRC) having a low level of type II collagen mRNA expression.
    Oxford JT, Doege KJ, Horton WE, Morris NP.
    Exp Cell Res; 1994 Jul; 213(1):28-36. PubMed ID: 8020600
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  • 11. Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
    Sarafova AP, Choi H, Forlino A, Gajko A, Cabral WA, Tosi L, Reing CM, Marini JC.
    Hum Mutat; 1998 Jul; 11(5):395-403. PubMed ID: 9600458
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  • 12. Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.
    Nicholls AC, Oliver J, McCarron S, Winter GB, Pope FM.
    Hum Mutat; 1996 Jul; 7(3):219-27. PubMed ID: 8829655
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  • 13. An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.
    Shapiro JR, Stover ML, Burn VE, McKinstry MB, Burshell AL, Chipman SD, Rowe DW.
    J Clin Invest; 1992 Feb; 89(2):567-73. PubMed ID: 1737847
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  • 14. Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation.
    Ganguly A, Baldwin CT, Strobel D, Conway D, Horton W, Prockop DJ.
    J Biol Chem; 1991 Jun 25; 266(18):12035-40. PubMed ID: 1711048
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  • 18. A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.
    Bateman JF, Chan D, Moeller I, Hannagan M, Cole WG.
    Biochem J; 1994 Sep 15; 302 ( Pt 3)(Pt 3):729-35. PubMed ID: 7945197
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  • 20. Posttranslational regulation of type I collagen in corneal endothelial cells.
    Kay EP, Gu X, Choi SH, Ninomiya Y.
    Invest Ophthalmol Vis Sci; 1996 Jan 15; 37(1):11-9. PubMed ID: 8550314
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