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254 related items for PubMed ID: 2145268

  • 1. A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
    Cole WG, Chiodo AA, Lamande SR, Janeczko R, Ramirez F, Dahl HH, Chan D, Bateman JF.
    J Biol Chem; 1990 Oct 05; 265(28):17070-7. PubMed ID: 2145268
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
    Chiodo AA, Sillence DO, Cole WG, Bateman JF.
    Biochem J; 1995 Nov 01; 311 ( Pt 3)(Pt 3):939-43. PubMed ID: 7487954
    [Abstract] [Full Text] [Related]

  • 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 Nov 01; 3(4):358-64. PubMed ID: 8081389
    [Abstract] [Full Text] [Related]

  • 6. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
    Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH.
    Am J Hum Genet; 2001 Nov 01; 69(5):989-1001. PubMed ID: 11577371
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  • 9. G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.
    Lee B, Vitale E, Superti-Furga A, Steinmann B, Ramirez F.
    J Biol Chem; 1991 Mar 15; 266(8):5256-9. PubMed ID: 1672129
    [Abstract] [Full Text] [Related]

  • 10. 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 Mar 15; 3(3):268-74. PubMed ID: 8019562
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 48(2):305-17. PubMed ID: 1990839
    [Abstract] [Full Text] [Related]

  • 12. 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 Feb 15; 6(2):116-25. PubMed ID: 7581395
    [Abstract] [Full Text] [Related]

  • 13. Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.
    Sillence DO, Chiodo AA, Campbell PE, Cole WG.
    J Med Genet; 1991 Dec 15; 28(12):840-5. PubMed ID: 1757960
    [Abstract] [Full Text] [Related]

  • 14. A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.
    Lloyd J, Narcisi P, Richards A, Pope FM.
    J Med Genet; 1993 May 15; 30(5):376-80. PubMed ID: 8320698
    [Abstract] [Full Text] [Related]

  • 15. A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.
    Bateman JF, Chan D, Moeller I, Hannagan M, Cole WG.
    Biochem J; 1994 Sep 15; 302 ( Pt 3)(Pt 3):729-35. PubMed ID: 7945197
    [Abstract] [Full Text] [Related]

  • 16. Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.
    Nuytinck L, Narcisi P, Nicholls A, Renard JP, Pope FM, De Paepe A.
    J Med Genet; 1992 Jun 15; 29(6):375-80. PubMed ID: 1619632
    [Abstract] [Full Text] [Related]

  • 17. Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.
    D'Alessio M, Ramirez F, Blumberg BD, Wirtz MK, Rao VH, Godfrey MD, Hollister DW.
    Am J Hum Genet; 1991 Aug 15; 49(2):400-6. PubMed ID: 1867198
    [Abstract] [Full Text] [Related]

  • 18. Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases.
    Stolle CA, Pyeritz RE, Myers JC, Prockop DJ.
    J Biol Chem; 1985 Feb 10; 260(3):1937-44. PubMed ID: 2981879
    [Abstract] [Full Text] [Related]

  • 19. Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV.
    Wu Y, Kuivaniemi H, Tromp G, Strobel D, Romanic AM, Prockop DJ.
    Hum Mutat; 1993 Feb 10; 2(1):28-36. PubMed ID: 8477261
    [Abstract] [Full Text] [Related]

  • 20. Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.
    Vissing H, D'Alessio M, Lee B, Ramirez F, Byers PH, Steinmann B, Superti-Furga A.
    J Biol Chem; 1991 Mar 15; 266(8):5244-8. PubMed ID: 2002056
    [Abstract] [Full Text] [Related]

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