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429 related items for PubMed ID: 15589118

  • 1. 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; 83(4):312-21. PubMed ID: 15589118
    [Abstract] [Full Text] [Related]

  • 2. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.
    Yeowell HN, Walker LC.
    Mol Genet Metab; 2000 Dec; 71(1-2):212-24. PubMed ID: 11001813
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 20; 109(1):33-41. PubMed ID: 9010914
    [Abstract] [Full Text] [Related]

  • 5. A common duplication in the lysyl hydroxylase gene of patients with Ehlers Danlos syndrome type VI results in preferential stimulation of lysyl hydroxylase activity and mRNA by hydralazine.
    Yeowell HN, Walker LC, Murad S, Pinnell SR.
    Arch Biochem Biophys; 1997 Nov 01; 347(1):126-31. PubMed ID: 9344473
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
    Walker LC, Marini JC, Grange DK, Filie J, Yeowell HN.
    Mol Genet Metab; 1999 May 01; 67(1):74-82. PubMed ID: 10329027
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.
    Yeowell HN, Walker LC, Farmer B, Heikkinen J, Myllyla R.
    Hum Mutat; 2000 Jul 01; 16(1):90. PubMed ID: 10874315
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Tissue-specific expression and regulation of the alternatively-spliced forms of lysyl hydroxylase 2 (LH2) in human kidney cells and skin fibroblasts.
    Walker LC, Overstreet MA, Yeowell HN.
    Matrix Biol; 2005 Jan 01; 23(8):515-23. PubMed ID: 15694128
    [Abstract] [Full Text] [Related]

  • 12. The lysyl hydroxylase isoforms are widely expressed during mouse embryogenesis, but obtain tissue- and cell-specific patterns in the adult.
    Salo AM, Sipilä L, Sormunen R, Ruotsalainen H, Vainio S, Myllylä R.
    Matrix Biol; 2006 Oct 01; 25(8):475-83. PubMed ID: 16996725
    [Abstract] [Full Text] [Related]

  • 13. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
    Yeowell HN, Walker LC.
    Proc Assoc Am Physicians; 1997 Jul 01; 109(4):383-96. PubMed ID: 9220536
    [Abstract] [Full Text] [Related]

  • 14. An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.
    Yeowell HN, Walker LC, Neumann LM.
    Eur J Dermatol; 2005 Jul 01; 15(5):353-8. PubMed ID: 16172044
    [Abstract] [Full Text] [Related]

  • 15. The Ehlers-Danlos syndromes.
    Yeowell HN, Pinnell SR.
    Semin Dermatol; 1993 Sep 01; 12(3):229-40. PubMed ID: 8217561
    [Abstract] [Full Text] [Related]

  • 16. Differential expression of human lysyl hydroxylase genes, lysine hydroxylation, and cross-linking of type I collagen during osteoblastic differentiation in vitro.
    Uzawa K, Grzesik WJ, Nishiura T, Kuznetsov SA, Robey PG, Brenner DA, Yamauchi M.
    J Bone Miner Res; 1999 Aug 01; 14(8):1272-80. PubMed ID: 10457259
    [Abstract] [Full Text] [Related]

  • 17. Lysyl hydroxylase-2b directs collagen cross-linking pathways in MC3T3-E1 cells.
    Pornprasertsuk S, Duarte WR, Mochida Y, Yamauchi M.
    J Bone Miner Res; 2004 Aug 01; 19(8):1349-55. PubMed ID: 15231023
    [Abstract] [Full Text] [Related]

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  • 19. A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
    Pousi B, Hautala T, Hyland JC, Schröter J, Eckes B, Kivirikko KI, Myllylä R.
    Hum Mutat; 1998 Aug 01; 11(1):55-61. PubMed ID: 9450904
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 116(4):602-5. PubMed ID: 11286629
    [Abstract] [Full Text] [Related]

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