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 *

204 related articles for article (PubMed ID: 2199725)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

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

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

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

  • 5. [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]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 3(3):268-74. PubMed ID: 8019562
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 109(1):33-41. PubMed ID: 9010914
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Surface located procollagen N-propeptides on dermatosparactic collagen fibrils are not cleaved by procollagen N-proteinase and do not inhibit binding of decorin to the fibril surface.
    Watson RB; Holmes DF; Graham HK; Nusgens BV; Kadler KE
    J Mol Biol; 1998 Apr; 278(1):195-204. PubMed ID: 9571043
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. [Collagen type I, III, IV and V and fibronectin in skin biopsies of patients with Ehlers-Danlos syndrome and cutis laxa].
    Shekhonin BV; Semiachkina AN; Makkaev KhM; Domogatskiĭ SP; Idel'son GL
    Arkh Patol; 1988; 50(12):41-8. PubMed ID: 3074749
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule.
    Superti-Furga A; Steinmann B
    Biochem Biophys Res Commun; 1988 Jan; 150(1):140-7. PubMed ID: 3337712
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 321(2):510-6. PubMed ID: 7646078
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 190(7):697-706; discussion 706-7. PubMed ID: 7808968
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Recurrent perforation of of the sigmoid colon associated with Ehlers-Danlos syndrome type IV].
    Doblado Cardellach B; Figueroa Andolla JM; Martín Pérez E; Delgado de Torres S; Pérez García A; Blasco Delgado O; López-Yarto J; Serrano Sánchez P
    Rev Esp Enferm Dig; 1996 Jan; 88(1):43-5. PubMed ID: 8616001
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Vascular Ehlers-Danlos syndromes--biochemical and molecular-genetic investigations].
    Lund AM
    Ugeskr Laeger; 2006 Feb; 168(9):915-20. PubMed ID: 16513057
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 269(2):169-77. PubMed ID: 7458408
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.