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Journal Abstract Search

139 related items for PubMed ID: 3800425

  • 1. Ehlers-Danlos syndrome. A variant characterized by the deficiency of pro alpha 2 chain of type I procollagen.
    Sasaki T, Arai K, Ono M, Yamaguchi T, Furuta S, Nagai Y.
    Arch Dermatol; 1987 Jan; 123(1):76-9. PubMed ID: 3800425
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  • 2. Low levels of serum type III procollagen aminoterminal propeptide confirmed type III collagen deficiency in patients without typical clinical symptoms of Ehlers-Danlos type IV.
    Dyne KM, Zanaboni G, Annoni G, De Agostini MP, Cetta G.
    Eur J Clin Invest; 1989 Aug; 19(4):362-6. PubMed ID: 2506053
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  • 3. [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
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  • 4. 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; 63(2):181-8. PubMed ID: 2199725
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  • 5. Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.
    Steinmann B, Tuderman L, Peltonen L, Martin GR, McKusick VA, Prockop DJ.
    J Biol Chem; 1980 Sep 25; 255(18):8887-93. PubMed ID: 6773953
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  • 8. Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos syndrome type IV. Demonstrate reduced type III collagen synthesis.
    Aumailley M, Krieg T, Dessau W, Müller PK, Timpl R, Bricaud H.
    Arch Dermatol Res; 1980 Sep 25; 269(2):169-77. PubMed ID: 7458408
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  • 9. Existence of malfunctioning pro alpha2(I) collagen genes in a patient with a pro alpha 2(I)-chain-defective variant of Ehlers-Danlos syndrome.
    Hata R, Kurata S, Shinkai H.
    Eur J Biochem; 1988 Jun 01; 174(2):231-7. PubMed ID: 3383844
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  • 10. Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen.
    Pyeritz RE, Stolle CA, Parfrey NA, Myers JC.
    Am J Med Genet; 1984 Nov 01; 19(3):607-22. PubMed ID: 6507506
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  • 11. 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
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  • 15. Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.
    Weil D, Bernard M, Combates N, Wirtz MK, Hollister DW, Steinmann B, Ramirez F.
    J Biol Chem; 1988 Jun 25; 263(18):8561-4. PubMed ID: 2454224
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  • 16. [Synthesis of procollagen proteins in cultured skin fibroblasts of patients with Ehlers-Danlos type I syndrome from a subisolated Azerbaijan population].
    Lomova TIu, Sher BM, Shakhova IK, Del'vig AA, Kukharenko VI.
    Mol Gen Mikrobiol Virusol; 1986 Feb 25; (2):35-9. PubMed ID: 2946946
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  • 17. 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 25; 109(1):33-41. PubMed ID: 9010914
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  • 19. Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.
    Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ.
    J Biol Chem; 1989 Nov 15; 264(32):19313-7. PubMed ID: 2808425
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