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159 related items for PubMed ID: 6773953

  • 1. 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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  • 3. A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
    Chiodo AA, Hockey A, Cole WG.
    J Biol Chem; 1992 Mar 25; 267(9):6361-9. PubMed ID: 1556139
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  • 4. Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.
    Cole WG, Chan D, Chambers GW, Walker ID, Bateman JF.
    J Biol Chem; 1986 Apr 25; 261(12):5496-503. PubMed ID: 3082886
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  • 5. Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII.
    Ho KK, Kong RY, Kuffner T, Hsu LH, Ma L, Cheah KS.
    Hum Mutat; 1994 Apr 25; 3(4):358-64. PubMed ID: 8081389
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  • 9. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
    Smith LT, Wertelecki W, Milstone LM, Petty EM, Seashore MR, Braverman IM, Jenkins TG, Byers PH.
    Am J Hum Genet; 1992 Aug 25; 51(2):235-44. PubMed ID: 1642226
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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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  • 12. [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 25; (1):19-23. PubMed ID: 3561422
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  • 13. 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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  • 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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  • 17. 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 25; 63(2):181-8. PubMed ID: 2199725
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  • 18. 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 25; 123(1):76-9. PubMed ID: 3800425
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  • 19. 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 25; 19(3):607-22. PubMed ID: 6507506
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  • 20. A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.
    Vasan NS, Kuivaniemi H, Vogel BE, Minor RR, Wootton JA, Tromp G, Weksberg R, Prockop DJ.
    Am J Hum Genet; 1991 Feb 25; 48(2):305-17. PubMed ID: 1990839
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