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 *

145 related articles for article (PubMed ID: 2066103)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.
    Wenstrup RJ; Lever LW; Phillips CL; Quarles LD
    Am J Med Genet; 1993 Jan; 45(2):228-32. PubMed ID: 8456807
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.
    Wirtz MK; Rao VH; Glanville RW; Labhard ME; Pretorius PJ; de Vries WN; de Wet WJ; Hollister DW
    Connect Tissue Res; 1993; 29(1):1-11. PubMed ID: 8339541
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
    Marini JC; Forlino A; Cabral WA; Barnes AM; San Antonio JD; Milgrom S; Hyland JC; Körkkö J; Prockop DJ; De Paepe A; Coucke P; Symoens S; Glorieux FH; Roughley PJ; Lund AM; Kuurila-Svahn K; Hartikka H; Cohn DH; Krakow D; Mottes M; Schwarze U; Chen D; Yang K; Kuslich C; Troendle J; Dalgleish R; Byers PH
    Hum Mutat; 2007 Mar; 28(3):209-21. PubMed ID: 17078022
    [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. 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]  

  • 11. Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.
    Rauch F; Lalic L; Roughley P; Glorieux FH
    Eur J Hum Genet; 2010 Jun; 18(6):642-7. PubMed ID: 20087402
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.
    Wenstrup RJ; Shrago-Howe AW; Lever LW; Phillips CL; Byers PH; Cohn DH
    J Biol Chem; 1991 Feb; 266(4):2590-4. PubMed ID: 1990009
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.
    Steinmann B; Westerhausen A; Constantinou CD; Superti-Furga A; Prockop DJ
    Biochem J; 1991 Nov; 279 ( Pt 3)(Pt 3):747-52. PubMed ID: 1953667
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.
    Sztrolovics R; Glorieux FH; Travers R; van der Rest M; Roughley PJ
    Bone; 1994; 15(3):321-8. PubMed ID: 7520724
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.
    Takagi M; Shinohara H; Narumi S; Nishimura G; Hasegawa Y; Hasegawa T
    Am J Med Genet A; 2015 Jul; 167(7):1627-31. PubMed ID: 25858481
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta.
    Makareeva E; Sun G; Mirigian LS; Mertz EL; Vera JC; Espinoza NA; Yang K; Chen D; Klein TE; Byers PH; Leikin S
    PLoS One; 2018; 13(7):e0200264. PubMed ID: 29990383
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.