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Journal Abstract Search

184 related items for PubMed ID: 3115194

  • 21. [Various characteristics of the structure and synthesis of procollagens produced by cultured skin fibroblasts from patients with Danlos-Ehlers syndrome type I].
    Sokolov BP, Sher BM, Lomova TIu, Kukharenko VI, Blinnikova OE.
    Mol Gen Mikrobiol Virusol; 1987 Jan; (1):19-23. PubMed ID: 3561422
    [Abstract] [Full Text] [Related]

  • 22. 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; 76(3):211-6. PubMed ID: 12126935
    [Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. Understanding genetic disorders of collagen.
    Krane SM.
    N Engl J Med; 1980 Jul 10; 303(2):101-2. PubMed ID: 7383059
    [No Abstract] [Full Text] [Related]

  • 25. Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management.
    Heim P, Raghunath M, Meiss L, Heise U, Myllylä R, Kohlschütter A, Steinmann B.
    Acta Paediatr; 1998 Jun 10; 87(6):708-10. PubMed ID: 9686670
    [Abstract] [Full Text] [Related]

  • 26. [Ehlers-Danlos syndrome. Description of 2 clinical cases].
    Ottolini A, Berardinelli A, Besana D, Cetta G, Dyne KM, Lanzi G.
    Minerva Pediatr; 1992 May 10; 44(5):231-6. PubMed ID: 1620075
    [Abstract] [Full Text] [Related]

  • 27. Defects in the biochemistry of collagen in diseases of connective tissue.
    Uitto J, Lichtenstein JR.
    J Invest Dermatol; 1976 Feb 10; 66(02):59-79. PubMed ID: 1448
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. Another mechanism for the defect in type III collagen accumulation in Ehlers-Danlos syndrome type IV: increased intracellular degradation of the procollagen.
    Utani A, Tanaka T, Nishigori C, Miyachi Y, Danno K, Imamura S, Hosokawa M, Takeda T, Hirayoshi K, Nagata K.
    Lab Invest; 1990 Aug 20; 63(2):181-8. PubMed ID: 2199725
    [Abstract] [Full Text] [Related]

  • 30. Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.
    Hamel BC, Pals G, Engels CH, van den Akker E, Boers GH, van Dongen PW, Steijlen PM.
    Clin Genet; 1998 Jun 20; 53(6):440-6. PubMed ID: 9712532
    [Abstract] [Full Text] [Related]

  • 31. Molecular defects in the Ehlers-Danlos syndrome.
    Pinnell SR.
    J Invest Dermatol; 1982 Jul 20; 79 Suppl 1():90s-92s. PubMed ID: 7086195
    [Abstract] [Full Text] [Related]

  • 32. Pathomorphological and biochemical alterations in Ehlers-Danlos-syndrome type IV.
    Nerlich AG, Stöss H, Lehmann H, Krieg T, Müller PK.
    Pathol Res Pract; 1994 Aug 20; 190(7):697-706; discussion 706-7. PubMed ID: 7808968
    [Abstract] [Full Text] [Related]

  • 33. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
    Lichtenstein JR, Martin GR, Kohn LD, Byers PH, McKusick VA.
    Science; 1973 Oct 19; 182(4109):298-300. PubMed ID: 4742738
    [Abstract] [Full Text] [Related]

  • 34. Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
    Seidler DG, Faiyaz-Ul-Haque M, Hansen U, Yip GW, Zaidi SH, Teebi AS, Kiesel L, Götte M.
    J Mol Med (Berl); 2006 Jul 19; 84(7):583-94. PubMed ID: 16583246
    [Abstract] [Full Text] [Related]

  • 35. Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes.
    Minor RR, Sippola-Thiele M, McKeon J, Berger J, Prockop DJ.
    J Biol Chem; 1986 Jul 25; 261(21):10006-14. PubMed ID: 3733683
    [Abstract] [Full Text] [Related]

  • 36. Abnormally soluble collagen produced in fibroblasts cultures.
    Francis G, Donnelly PV, Di Ferrante N.
    Experientia; 1976 Jun 15; 32(6):691-3. PubMed ID: 950007
    [Abstract] [Full Text] [Related]

  • 37. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.
    Mao JR, Taylor G, Dean WB, Wagner DR, Afzal V, Lotz JC, Rubin EM, Bristow J.
    Nat Genet; 2002 Apr 15; 30(4):421-5. PubMed ID: 11925569
    [Abstract] [Full Text] [Related]

  • 38. 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]

  • 39. 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 03; 36(4):783-90. PubMed ID: 6089551
    [Abstract] [Full Text] [Related]

  • 40. Transcriptional activation of type I collagen genes by ascorbic acid 2-phosphate in human skin fibroblasts and its failure in cells from a patient with alpha 2(I)-chain-defective Ehlers-Danlos syndrome.
    Kurata S, Senoo H, Hata R.
    Exp Cell Res; 1993 May 03; 206(1):63-71. PubMed ID: 8482361
    [Abstract] [Full Text] [Related]

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