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 *

115 related articles for article (PubMed ID: 7906591)

  • 1. A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.
    Rose NJ; Mackay K; Byers PH; Dalgleish R
    Hum Mol Genet; 1993 Dec; 2(12):2175-7. PubMed ID: 7906591
    [No Abstract]   [Full Text] [Related]  

  • 2. Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
    Mackay K; De Paepe A; Nuytinck L; Dalgleish R
    Hum Mutat; 1994; 3(3):324-6. PubMed ID: 8019571
    [No 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. 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]  

  • 5. Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.
    Cohen-Solal L; Zylberberg L; Sangalli A; Gomez Lira M; Mottes M
    J Biol Chem; 1994 May; 269(20):14751-8. PubMed ID: 8182080
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
    Rose NJ; Mackay K; Byers PH; Dalgleish R
    Hum Mutat; 1994; 3(4):391-4. PubMed ID: 8081394
    [No Abstract]   [Full Text] [Related]  

  • 9. Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.
    Zhuang J; Tromp G; Kuivaniemi H; Castells S; Prockop DJ
    Am J Med Genet; 1996 Jan; 61(2):111-16. PubMed ID: 8669434
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.
    Rose NJ; Mackay K; Byers PH; Dalgleish R
    Hum Genet; 1995 Feb; 95(2):215-8. PubMed ID: 7860070
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Incorporation of type I collagen molecules that contain a mutant alpha 2(I) chain (Gly580-->Asp) into bone matrix in a lethal case of osteogenesis imperfecta.
    Niyibizi C; Bonadio J; Byers PH; Eyre DR
    J Biol Chem; 1992 Nov; 267(32):23108-12. PubMed ID: 1385413
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.
    Deak SB; Scholz PM; Amenta PS; Constantinou CD; Levi-Minzi SA; Gonzalez-Lavin L; Mackenzie JW
    J Biol Chem; 1991 Nov; 266(32):21827-32. PubMed ID: 1718984
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.