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163 related items for PubMed ID: 6432919

  • 1. Ehlers-Danlos syndrome type VI: collagen type specificity of defective lysyl hydroxylation in various tissues.
    Ihme A, Krieg T, Nerlich A, Feldmann U, Rauterberg J, Glanville RW, Edel G, Müller PK.
    J Invest Dermatol; 1984 Sep; 83(3):161-5. PubMed ID: 6432919
    [Abstract] [Full Text] [Related]

  • 2. A comparison of lysyl hydroxylation in various types of collagen from type VI Ehlers-Danlos syndrome fibroblasts.
    Tajima S, Murad S, Pinnell SR.
    Coll Relat Res; 1983 Nov; 3(6):511-5. PubMed ID: 6421539
    [Abstract] [Full Text] [Related]

  • 3. Collagen synthesis by cultured skin fibroblasts from siblings with hydroxylysine-deficient collagen.
    Quinn RS, Krane SM.
    Biochim Biophys Acta; 1979 Jul 18; 585(4):589-98. PubMed ID: 465542
    [Abstract] [Full Text] [Related]

  • 4. Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant.
    Krieg T, Feldmann U, Kessler W, Müller PK.
    Hum Genet; 1979 Jan 19; 46(1):41-9. PubMed ID: 429005
    [Abstract] [Full Text] [Related]

  • 5. Defects in the biochemistry of collagen in diseases of connective tissue.
    Uitto J, Lichtenstein JR.
    J Invest Dermatol; 1976 Feb 19; 66(02):59-79. PubMed ID: 1448
    [Abstract] [Full Text] [Related]

  • 6. 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 19; 13(4):357-62. PubMed ID: 6413223
    [Abstract] [Full Text] [Related]

  • 7. Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI.
    Pasquali M, Still MJ, Vales T, Rosen RI, Evinger JD, Dembure PP, Longo N, Elsas LJ.
    Proc Assoc Am Physicians; 1997 Jan 19; 109(1):33-41. PubMed ID: 9010914
    [Abstract] [Full Text] [Related]

  • 8. Collagen biosynthesis and isomorphism in a case of Ehlers-Danlos syndrome type VI.
    Chamson A, Berbis P, Fabre JF, Privat Y, Frey J.
    Arch Dermatol Res; 1987 Jan 19; 279(5):303-7. PubMed ID: 3115194
    [Abstract] [Full Text] [Related]

  • 9. The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine.
    Eyre D, Shao P, Weis MA, Steinmann B.
    Mol Genet Metab; 2002 Jul 19; 76(3):211-6. PubMed ID: 12126935
    [Abstract] [Full Text] [Related]

  • 10. Patients with Ehlers-Danlos syndrome type IV lack type III collagen.
    Pope FM, Martin GR, Lichtenstein JR, Penttinen R, Gerson B, Rowe DW, McKusick VA.
    Proc Natl Acad Sci U S A; 1975 Apr 19; 72(4):1314-6. PubMed ID: 1055406
    [Abstract] [Full Text] [Related]

  • 11. 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 19; 116(4):602-5. PubMed ID: 11286629
    [Abstract] [Full Text] [Related]

  • 12. Molecular defects in the Ehlers-Danlos syndrome.
    Pinnell SR.
    J Invest Dermatol; 1982 Jul 19; 79 Suppl 1():90s-92s. PubMed ID: 7086195
    [Abstract] [Full Text] [Related]

  • 13. P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.
    Hudson DM, Weis M, Rai J, Joeng KS, Dimori M, Lee BH, Morello R, Eyre DR.
    J Biol Chem; 2017 Mar 03; 292(9):3877-3887. PubMed ID: 28115524
    [Abstract] [Full Text] [Related]

  • 14. 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 03; 83(4):312-21. PubMed ID: 15589118
    [Abstract] [Full Text] [Related]

  • 15. 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
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  • 17. 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]

  • 18. 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]

  • 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 large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings.
    Hautala T, Heikkinen J, Kivirikko KI, Myllylä R.
    Genomics; 1993 Feb 01; 15(2):399-404. PubMed ID: 8449506
    [Abstract] [Full Text] [Related]

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