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 *

168 related articles for article (PubMed ID: 21384)

  • 1. [Hereditary deficiency in the enzymes of the biosynthesis of collagen. The Ehlers-Danlos syndromes (author's transl)].
    Gajdos A
    Nouv Presse Med; 1977 Oct; 6(34):3101-5. PubMed ID: 21384
    [TBL] [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; 71(1-2):212-24. PubMed ID: 11001813
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis.
    Nusgens BV; Verellen-Dumoulin C; Hermanns-Lê T; De Paepe A; Nuytinck L; Piérard GE; Lapière CM
    Nat Genet; 1992 Jun; 1(3):214-7. PubMed ID: 1303238
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Ehlers-Danlos syndrome].
    Ueki Y; Yoshino T; Yoshioka H
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):514-7. PubMed ID: 9645123
    [No 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; 347(1):126-31. PubMed ID: 9344473
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 15(2):399-404. PubMed ID: 8449506
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ehlers-Danlos type V (X-linked form): a lysyl oxidase deficiency.
    Di Ferrante N; Leachman RD; Angelini P; Donnelly PV; Francis G; Almazan A; Segni G; Franzblau C; Jordan RE
    Birth Defects Orig Artic Ser; 1975; 11(6):31-7. PubMed ID: 101
    [No Abstract]   [Full Text] [Related]  

  • 9. Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency.
    Wenstrup RJ; Murad S; Pinnell SR
    J Pediatr; 1989 Sep; 115(3):405-9. PubMed ID: 2504907
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 321(2):510-6. PubMed ID: 7646078
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 36(4):783-90. PubMed ID: 6089551
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A case of Ehlers Danlos syndrome type VI.
    Salavoura K; Valari M; Kolialexi A; Mavrou A; Kitsiou S
    Genet Couns; 2006; 17(3):291-4. PubMed ID: 17100196
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 15. 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; 30(3):255-74. PubMed ID: 1184396
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 2(3):228-31. PubMed ID: 1345174
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The biosynthesis of collagen and its disorders (second of two parts).
    Prockop DJ; Kivirikko KI; Tuderman L; Guzman NA
    N Engl J Med; 1979 Jul; 301(2):77-85. PubMed ID: 36559
    [No Abstract]   [Full Text] [Related]  

  • 18. Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.
    Heikkinen J; Hautala T; Kivirikko KI; Myllylä R
    Genomics; 1994 Dec; 24(3):464-71. PubMed ID: 7713497
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome.
    Sussman M; Lichtenstein JR; Nigra TP; Martin GR; McKusick VA
    J Bone Joint Surg Am; 1974 Sep; 56(6):1228-34. PubMed ID: 4373475
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Enzymes converting procollagens to collagens.
    Peltonen L; Halila R; Ryhänen L
    J Cell Biochem; 1985; 28(1):15-21. PubMed ID: 3928635
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.