These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 3722184)

  • 1. Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms.
    Steinmann B; Nicholls A; Pope FM
    J Biol Chem; 1986 Jul; 261(19):8958-64. PubMed ID: 3722184
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.
    Steinmann B; Rao VH; Vogel A; Bruckner P; Gitzelmann R; Byers PH
    J Biol Chem; 1984 Sep; 259(17):11129-38. PubMed ID: 6469997
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.
    Valli M; Mottes M; Tenni R; Sangalli A; Gomez Lira M; Rossi A; Antoniazzi F; Cetta G; Pignatti PF
    J Biol Chem; 1991 Jan; 266(3):1872-8. PubMed ID: 1988452
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.
    Starman BJ; Eyre D; Charbonneau H; Harrylock M; Weis MA; Weiss L; Graham JM; Byers PH
    J Clin Invest; 1989 Oct; 84(4):1206-14. PubMed ID: 2794057
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen.
    Wenstrup RJ; Hunter AG; Byers PH
    Hum Genet; 1986 Sep; 74(1):47-53. PubMed ID: 3759085
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A structural mutation of the collagen alpha 1(I)CB7 peptide in lethal perinatal osteogenesis imperfecta.
    Bateman JF; Mascara T; Chan D; Cole WG
    J Biol Chem; 1987 Apr; 262(10):4445-51. PubMed ID: 3558348
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta.
    Tenni R; Biglino P; Dyne K; Rossi A; Filocamo M; Pendola F; Brunelli P; Buttitta P; Borrone C; Cetta G
    J Inherit Metab Dis; 1991; 14(2):189-201. PubMed ID: 1886404
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta.
    Bateman JF; Mascara T; Chan D; Cole WG
    Biochem J; 1984 Jan; 217(1):103-15. PubMed ID: 6421277
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta.
    Raghunath M; Bruckner P; Steinmann B
    J Mol Biol; 1994 Feb; 236(3):940-9. PubMed ID: 8114103
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
    Marini JC; Lewis MB; Wang Q; Chen KJ; Orrison BM
    J Biol Chem; 1993 Feb; 268(4):2667-73. PubMed ID: 8094076
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.
    Bateman JF; Chan D; Walker ID; Rogers JG; Cole WG
    J Biol Chem; 1987 May; 262(15):7021-7. PubMed ID: 3108247
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Copolymerization of normal type I collagen with three mutated type I collagens containing substitutions of cysteine at different glycine positions in the alpha 1 (I) chain.
    Torre-Blanco A; Adachi E; Romanic AM; Prockop DJ
    J Biol Chem; 1992 Mar; 267(7):4968-73. PubMed ID: 1537873
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.