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 *

155 related articles for article (PubMed ID: 2777764)

  • 21. 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]  

  • 22. 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]  

  • 23. SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
    Mackay K; Lund AM; Raghunath M; Steinmann B; Dalgleish R
    Hum Genet; 1993 Jun; 91(5):439-44. PubMed ID: 8100209
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix.
    Cabral WA; Mertts MV; Makareeva E; Colige A; Tekin M; Pandya A; Leikin S; Marini JC
    J Biol Chem; 2003 Mar; 278(12):10006-12. PubMed ID: 12538651
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix.
    Baldwin CT; Constantinou CD; Dumars KW; Prockop DJ
    J Biol Chem; 1989 Feb; 264(5):3002-6. PubMed ID: 2914942
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.
    Marini JC; Grange DK; Gottesman GS; Lewis MB; Koeplin DA
    J Biol Chem; 1989 Jul; 264(20):11893-900. PubMed ID: 2745420
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta.
    Chessler SD; Wallis GA; Byers PH
    J Biol Chem; 1993 Aug; 268(24):18218-25. PubMed ID: 8349697
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA.
    Bateman JF; Lamande SR; Dahl HH; Chan D; Cole WG
    J Biol Chem; 1988 Aug; 263(24):11627-30. PubMed ID: 3403550
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase.
    Lightfoot SJ; Atkinson MS; Murphy G; Byers PH; Kadler KE
    J Biol Chem; 1994 Dec; 269(48):30352-7. PubMed ID: 7982948
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen.
    Rose NJ; Mackay K; De Paepe A; Steinmann B; Punnett HH; Dalgleish R
    Hum Genet; 1994 Nov; 94(5):497-503. PubMed ID: 7959683
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix.
    Tsuneyoshi T; Westerhausen A; Constantinou CD; Prockop DJ
    J Biol Chem; 1991 Aug; 266(24):15608-13. PubMed ID: 1874719
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.
    Wang Q; Orrison BM; Marini JC
    J Biol Chem; 1993 Nov; 268(33):25162-7. PubMed ID: 7693712
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.
    Molyneux K; Starman BJ; Byers PH; Dalgleish R
    Hum Genet; 1993 Feb; 90(6):621-8. PubMed ID: 8444468
    [TBL] [Abstract][Full Text] [Related]  

  • 39. An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
    Mackay K; Byers PH; Dalgleish R
    Hum Mol Genet; 1993 Aug; 2(8):1155-60. PubMed ID: 7691343
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 8.