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Journal Abstract Search

167 related items for PubMed ID: 6778480

  • 1. Preferential hydroxylation of type IV collagen by lysyl hydroxylase from Ehlers-Danlos syndrome type VI fibroblasts.
    Risteli L, Risteli J, Ihme A, Krieg T, Müller PK.
    Biochem Biophys Res Commun; 1980 Oct 31; 96(4):1778-84. PubMed ID: 6778480
    [No Abstract] [Full Text] [Related]

  • 2. Adenoviral gene transfer restores lysyl hydroxylase activity in type VI Ehlers-Danlos syndrome.
    Rauma T, Kumpumäki S, Anderson R, Davidson BL, Ruotsalainen H, Myllylä R, Hautala T.
    J Invest Dermatol; 2001 Apr 31; 116(4):602-5. PubMed ID: 11286629
    [Abstract] [Full Text] [Related]

  • 3. Biochemical characterization of variants of the Ehlers-Danlos syndrome type VI.
    Ihme A, Risteli L, Krieg T, Risteli J, Feldmann U, Kruse K, Müller PK.
    Eur J Clin Invest; 1983 Aug 31; 13(4):357-62. PubMed ID: 6413223
    [Abstract] [Full Text] [Related]

  • 4. Ascorbate action on normal and mutant human lysyl hydroxylases from cultured dermal fibroblasts.
    Miller RL, Elsas LJ, Priest RE.
    J Invest Dermatol; 1979 May 31; 72(5):241-7. PubMed ID: 222849
    [No Abstract] [Full Text] [Related]

  • 5. A [3H]lysine-containing synthetic peptide substrate for human protocollagen lysyl hydroxylase.
    Glass DB, Dembure PP, Priest JH, Elsas LJ.
    Biochim Biophys Acta; 1985 Jun 18; 840(2):143-52. PubMed ID: 3922429
    [Abstract] [Full Text] [Related]

  • 6. Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency.
    Wenstrup RJ, Murad S, Pinnell SR.
    J Pediatr; 1989 Sep 18; 115(3):405-9. PubMed ID: 2504907
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  • 8. Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.
    Dembure PP, Priest JH, Snoddy SC, Elsas LJ.
    Am J Hum Genet; 1984 Jul 18; 36(4):783-90. PubMed ID: 6089551
    [Abstract] [Full Text] [Related]

  • 9. The mRNA and the activity of lysyl hydroxylase are up-regulated by the administration of ascorbate and hydralazine to human skin fibroblasts from a patient with Ehlers-Danlos syndrome type VI.
    Yeowell HN, Walker LC, Marshall MK, Murad S, Pinnell SR.
    Arch Biochem Biophys; 1995 Aug 20; 321(2):510-6. PubMed ID: 7646078
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  • 11. Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.
    Royce PM, Steinmann B, Vogel A, Steinhorst U, Kohlschuetter A.
    Eur J Pediatr; 1990 Apr 20; 149(7):465-9. PubMed ID: 2112090
    [Abstract] [Full Text] [Related]

  • 12. Evidence for a relative excess of lysyl hydroxylase in chick embryo tendon and cartilage compared with bone and skin.
    Puistola U, Anttinen H.
    Biochim Biophys Acta; 1982 Jul 16; 717(1):118-23. PubMed ID: 6285987
    [Abstract] [Full Text] [Related]

  • 13. Human lysyl hydroxylase: purification to homogeneity, partial characterization and comparison of catalytic properties with those of a mutant enzyme from Ehlers-Danlos syndrome type VI fibroblasts.
    Turpeenniemi-Hujanen TM, Puistola U, Kivirikko KI.
    Coll Relat Res; 1981 Jul 16; 1(4):355-66. PubMed ID: 6809411
    [Abstract] [Full Text] [Related]

  • 14. Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.
    Walker LC, Overstreet MA, Willing MC, Marini JC, Cabral WA, Pals G, Bristow J, Atsawasuwan P, Yamauchi M, Yeowell HN.
    Am J Med Genet A; 2004 Dec 01; 131(2):155-62. PubMed ID: 15523625
    [Abstract] [Full Text] [Related]

  • 15. Prolyl and lysyl hydroxylase activities of human skin fibroblasts: effect of donor age and ascorbate.
    Murad S, Sivarajah A, Pinnell SR.
    J Invest Dermatol; 1980 Nov 01; 75(5):404-7. PubMed ID: 6253574
    [Abstract] [Full Text] [Related]

  • 16. Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.
    Walker LC, Teebi AS, Marini JC, De Paepe A, Malfait F, Atsawasuwan P, Yamauchi M, Yeowell HN.
    Mol Genet Metab; 2004 Dec 01; 83(4):312-21. PubMed ID: 15589118
    [Abstract] [Full Text] [Related]

  • 17. Abnormal properties of collagen lysyl hydroxylase from skin fibroblasts of siblings with hydroxylysine-deficient collagen.
    Quinn RS, Krane SM.
    J Clin Invest; 1976 Jan 01; 57(1):83-93. PubMed ID: 173744
    [Abstract] [Full Text] [Related]

  • 18. A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI.
    Heikkinen J, Pousi B, Pope M, Myllylä R.
    Hum Mutat; 1999 Oct 01; 14(4):351. PubMed ID: 10502784
    [Abstract] [Full Text] [Related]

  • 19. Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.
    Steinmann B, Gitzelmann R, Vogel A, Grant ME, Harwood R, Sear CH.
    Helv Paediatr Acta; 1975 Oct 01; 30(3):255-74. PubMed ID: 1184396
    [Abstract] [Full Text] [Related]

  • 20. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.
    Hyland J, Ala-Kokko L, Royce P, Steinmann B, Kivirikko KI, Myllylä R.
    Nat Genet; 1992 Nov 01; 2(3):228-31. PubMed ID: 1345174
    [Abstract] [Full Text] [Related]

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