BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 1990009)

  • 21. Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.
    Cohn DH; Apone S; Eyre DR; Starman BJ; Andreassen P; Charbonneau H; Nicholls AC; Pope FM; Byers PH
    J Biol Chem; 1988 Oct; 263(29):14605-7. PubMed ID: 3170557
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
    Cabral WA; Makareeva E; Letocha AD; Scribanu N; Fertala A; Steplewski A; Keene DR; Persikov AV; Leikin S; Marini JC
    Hum Mutat; 2007 Apr; 28(4):396-405. PubMed ID: 17206620
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
    Nicholls AC; Oliver J; Renouf DV; Keston M; Pope FM
    J Med Genet; 1991 Nov; 28(11):757-64. PubMed ID: 1770532
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.
    Kurosaka D; Hattori S; Hori H; Yamaguchi N; Hasegawa T; Akimoto H; Nagai Y
    J Biochem; 1994 May; 115(5):853-7. PubMed ID: 7961597
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.
    Wallis GA; Starman BJ; Schwartz MF; Byers PH
    J Biol Chem; 1990 Oct; 265(30):18628-33. PubMed ID: 2211725
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.
    Bateman JF; Moeller I; Hannagan M; Chan D; Cole WG
    Biochem J; 1992 Nov; 288 ( Pt 1)(Pt 1):131-5. PubMed ID: 1445258
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
    Spotila LD; Constantinou CD; Sereda L; Ganguly A; Riggs BL; Prockop DJ
    Proc Natl Acad Sci U S A; 1991 Jun; 88(12):5423-7. PubMed ID: 2052622
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta.
    Labhard ME; Wirtz MK; Pope FM; Nicholls AC; Hollister DW
    Mol Biol Med; 1988 Dec; 5(3):197-207. PubMed ID: 3244312
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
    Bateman JF; Hannagan M; Chan D; Cole WG
    Biochem J; 1991 Jun; 276 ( Pt 3)(Pt 3):765-70. PubMed ID: 2064612
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.
    Oliver JE; Thompson EM; Pope FM; Nicholls AC
    Hum Mutat; 1996; 7(4):318-26. PubMed ID: 8723681
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.
    Wallis GA; Kadler KE; Starman BJ; Byers PH
    J Biol Chem; 1992 Dec; 267(35):25529-34. PubMed ID: 1460047
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
    Constantinou CD; Nielsen KB; Prockop DJ
    J Clin Invest; 1989 Feb; 83(2):574-84. PubMed ID: 2913053
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains.
    de Vries WN; de Wet WJ
    J Biol Chem; 1986 Jul; 261(19):9056-64. PubMed ID: 3722186
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Cysteine in the triple helical domain of the pro alpha 2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta.
    Cohn DH; Byers PH
    Hum Genet; 1991 Jun; 87(2):167-72. PubMed ID: 2066103
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A type I collagen with substitution of a cysteine for glycine-748 in the alpha 1(I) chain copolymerizes with normal type I collagen and can generate fractallike structures.
    Kadler KE; Torre-Blanco A; Adachi E; Vogel BE; Hojima Y; Prockop DJ
    Biochemistry; 1991 May; 30(20):5081-8. PubMed ID: 2036375
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
    Cohn DH; Byers PH; Steinmann B; Gelinas RE
    Proc Natl Acad Sci U S A; 1986 Aug; 83(16):6045-7. PubMed ID: 3016737
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.
    Lamandé SR; Chessler SD; Golub SB; Byers PH; Chan D; Cole WG; Sillence DO; Bateman JF
    J Biol Chem; 1995 Apr; 270(15):8642-9. PubMed ID: 7721766
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions.
    Baker AT; Ramshaw JA; Chan D; Cole WG; Bateman JF
    Biochem J; 1989 Jul; 261(1):253-7. PubMed ID: 2775212
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 7.