These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 2993307)

  • 1. A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.
    Eyre DR; Shapiro FD; Aldridge JF
    J Biol Chem; 1985 Sep; 260(20):11322-9. PubMed ID: 2993307
    [TBL] [Abstract][Full Text] [Related]  

  • 2. In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.
    Wirtz MK; Keene DR; Hori H; Glanville RW; Steinmann B; Rao VH; Hollister DW
    J Biol Chem; 1990 Apr; 265(11):6312-7. PubMed ID: 2318855
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 267(9):6361-9. PubMed ID: 1556139
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 261(12):5496-503. PubMed ID: 3082886
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.
    Wirtz MK; Glanville RW; Steinmann B; Rao VH; Hollister DW
    J Biol Chem; 1987 Dec; 262(34):16376-85. PubMed ID: 3680255
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
    Carr AJ; Chiodo AA; Hilton JM; Chow CW; Hockey A; Cole WG
    J Med Genet; 1994 Apr; 31(4):306-11. PubMed ID: 8071956
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 3(4):358-64. PubMed ID: 8081389
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 265(28):17070-7. PubMed ID: 2145268
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 255(18):8887-93. PubMed ID: 6773953
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 260(3):1937-44. PubMed ID: 2981879
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chain.
    Nicholls AC; Oliver J; Renouf DV; McPheat J; Palan A; Pope FM
    Hum Genet; 1991 Jun; 87(2):193-8. PubMed ID: 1712342
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.
    Watson RB; Wallis GA; Holmes DF; Viljoen D; Byers PH; Kadler KE
    J Biol Chem; 1992 May; 267(13):9093-100. PubMed ID: 1577745
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 51(2):235-44. PubMed ID: 1642226
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 266(8):5244-8. PubMed ID: 2002056
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 263(18):8561-4. PubMed ID: 2454224
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen.
    Cole WG; Evans R; Sillence DO
    J Med Genet; 1987 Nov; 24(11):698-701. PubMed ID: 3430546
    [TBL] [Abstract][Full Text] [Related]  

  • 18. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
    Nicholls AC; Oliver JE; McCarron S; Harrison JB; Greenspan DS; Pope FM
    J Med Genet; 1996 Nov; 33(11):940-6. PubMed ID: 8950675
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.
    Weil D; D'Alessio M; Ramirez F; Eyre DR
    J Biol Chem; 1990 Sep; 265(26):16007-11. PubMed ID: 2394758
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Isolation of collagen from the skins of Ehlers-Danlos syndrome-affected dogs by acetic acid extraction and pepsin digestion.
    Counts DF
    Biochim Biophys Acta; 1980 Nov; 626(1):208-17. PubMed ID: 6779875
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.