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Journal Abstract Search

179 related items for PubMed ID: 6259441

  • 1. Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts.
    Byers PH, Holbrook KA, Barsh GS, Smith LT, Bornstein P.
    Lab Invest; 1981 Apr; 44(4):336-41. PubMed ID: 6259441
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 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. 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; 19(3):607-22. PubMed ID: 6507506
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  • 5. Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen.
    Steinmann B, Superti-Furga A, Joller-Jemelka HI, Cetta G, Byers PH.
    Am J Med Genet; 1989 Sep; 34(1):68-71. PubMed ID: 2816989
    [Abstract] [Full Text] [Related]

  • 6. Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.
    Thakker-Varia S, Anderson DW, Kuivaniemi H, Tromp G, Shin HG, van der Rest M, Glorieux FH, Ala-Kokko L, Stolle CA.
    Hum Mutat; 1995 Sep; 6(2):116-25. PubMed ID: 7581395
    [Abstract] [Full Text] [Related]

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

  • 8. Enzyme-linked immunoassay and electrophoretic separation of collagens secreted by cultured skin fibroblasts of patients with Ehlers-Danlos and Marfan syndromes.
    Borisova NV, Safronova EE, Krasnopol'skaya KD, Blinnikova OE, Polyudov SA.
    Biomed Sci; 1991 May; 2(5):523-9. PubMed ID: 1840842
    [Abstract] [Full Text] [Related]

  • 9. Lung collagen in type IV Ehlers-Danlos syndrome: ultrastructural and biochemical studies.
    Clark JG, Kuhn C, Uitto J.
    Am Rev Respir Dis; 1980 Dec; 122(6):971-8. PubMed ID: 7458068
    [Abstract] [Full Text] [Related]

  • 10. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
    Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC.
    Hum Mutat; 2007 Apr; 28(4):396-405. PubMed ID: 17206620
    [Abstract] [Full Text] [Related]

  • 11. Differential interaction of molecular chaperones with procollagen I and type IV collagen in corneal endothelial cells.
    Ko MK, Kay EP.
    Mol Vis; 2002 Jan 11; 8():1-9. PubMed ID: 11815750
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  • 16. 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
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  • 17. [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 20; (2):35-9. PubMed ID: 2946946
    [No Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
    Anderson DW, Thakker-Varia S, Tromp G, Kuivaniemi H, Stolle CA.
    Hum Mutat; 1997 Aug 20; 9(1):62-3. PubMed ID: 8990011
    [No Abstract] [Full Text] [Related]

  • 20. Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
    Nuytinck L, De Paepe A, Renard JP, Adriaens F, Leroy J.
    Hum Mutat; 1994 Aug 20; 3(3):268-74. PubMed ID: 8019562
    [Abstract] [Full Text] [Related]

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