BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

335 related articles for article (PubMed ID: 1642148)

  • 1. Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV.
    Chipman SD; Shapiro JR; McKinstry MB; Stover ML; Branson P; Rowe DW
    J Bone Miner Res; 1992 Jul; 7(7):793-805. PubMed ID: 1642148
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Studies on type I collagen in skin fibroblasts cultured from twins with lethal osteogenesis imperfecta.
    Galicka A; Wołczyński S; Gindzieński A
    Acta Biochim Pol; 2003; 50(2):481-8. PubMed ID: 12833172
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV.
    Galicka A; Wolczynski S; Gindzienski A
    J Pathol; 2002 Feb; 196(2):235-7. PubMed ID: 11793376
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Localization of a structural defect in type I procollagen in a patient affected with the severe non-lethal form of Osteogenesis imperfecta.
    Dyne K; Cetta G; Tenni R; Rossi A; Finardi E; Brunelli PC; Castellani AA
    Ital J Biochem; 1987; 36(4):256-66. PubMed ID: 3429209
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular heterogeneity in osteogenesis imperfecta type I.
    Willing MC; Pruchno CJ; Byers PH
    Am J Med Genet; 1993 Jan; 45(2):223-7. PubMed ID: 8456806
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha2(I) and severe osteogenesis imperfecta.
    Campbell BG; Wootton JA; Macleod JN; Minor RR
    J Bone Miner Res; 2001 Jun; 16(6):1147-53. PubMed ID: 11393792
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Sequence of canine COL1A2 cDNA: nucleotide substitutions affecting the cyanogen bromide peptide map of the alpha 2(I) chain.
    Campbell BG; Wootton JA; MacLeod JN; Minor RR
    Arch Biochem Biophys; 1998 Sep; 357(1):67-75. PubMed ID: 9721184
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 11(5):395-403. PubMed ID: 9600458
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 7(3):219-27. PubMed ID: 8829655
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 266(18):12035-40. PubMed ID: 1711048
    [TBL] [Abstract][Full Text] [Related]  

  • 16. G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix.
    Cabral WA; Chernoff EJ; Marini JC
    Mol Genet Metab; 2001 Apr; 72(4):326-35. PubMed ID: 11286507
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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.
    Cole WG; Chiodo AA; Lamande SR; Janeczko R; Ramirez F; Dahl HH; Chan D; Bateman JF
    J Biol Chem; 1990 Oct; 265(28):17070-7. PubMed ID: 2145268
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III).
    Bonaventure J; Cohen-Solal L; Lasselin C; Allain JC; Maroteaux P
    Biochim Biophys Acta; 1986 Oct; 889(1):23-34. PubMed ID: 3768427
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 302 ( Pt 3)(Pt 3):729-35. PubMed ID: 7945197
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.
    Zhuang J; Tromp G; Kuivaniemi H; Nakayasu K; Prockop DJ
    Hum Genet; 1993 Apr; 91(3):210-6. PubMed ID: 7916744
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.