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 *

85 related articles for article (PubMed ID: 8990011)

  • 1. 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; 9(1):62-3. PubMed ID: 8990011
    [No 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. Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
    Tromp G; De Paepe A; Nuytinck L; Madhatheri S; Kuivaniemi H
    Hum Mutat; 1995; 5(2):179-81. PubMed ID: 7749417
    [No 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. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
    Kontusaari S; Tromp G; Kuivaniemi H; Stolle C; Pope FM; Prockop DJ
    Am J Hum Genet; 1992 Sep; 51(3):497-507. PubMed ID: 1496983
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.
    Tromp G; Kuivaniemi H; Stolle C; Pope FM; Prockop DJ
    J Biol Chem; 1989 Nov; 264(32):19313-7. PubMed ID: 2808425
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.
    Gilchrist D; Schwarze U; Shields K; MacLaren L; Bridge PJ; Byers PH
    Am J Med Genet; 1999 Feb; 82(4):305-11. PubMed ID: 10051163
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.
    Madhatheri SL; Tromp G; Gustavson KH; Kuivaniemi H
    Hum Mol Genet; 1994 Mar; 3(3):511-2. PubMed ID: 7912131
    [No Abstract]   [Full Text] [Related]  

  • 13. A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.
    Tromp G; Kuivaniemi H; Shikata H; Prockop DJ
    J Biol Chem; 1989 Jan; 264(3):1349-52. PubMed ID: 2492273
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.
    Richards A; Narcisi P; Lloyd J; Ferguson C; Pope FM
    J Med Genet; 1993 Aug; 30(8):690-3. PubMed ID: 8411057
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
    Kontusaari S; Tromp G; Kuivaniemi H; Ladda RL; Prockop DJ
    Am J Hum Genet; 1990 Jul; 47(1):112-20. PubMed ID: 2349939
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
    Malfait F; Symoens S; De Backer J; Hermanns-Lê T; Sakalihasan N; Lapière CM; Coucke P; De Paepe A
    Hum Mutat; 2007 Apr; 28(4):387-95. PubMed ID: 17211858
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.
    Superti-Furga A; Steinmann B; Ramirez F; Byers PH
    Hum Genet; 1989 May; 82(2):104-8. PubMed ID: 2722184
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ehlers-Danlos syndrome type IV.
    Pinto YM; Pals G; Zijlstra JG; Tulleken JE
    N Engl J Med; 2000 Aug; 343(5):366-8. PubMed ID: 10928898
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. Ehlers-Danlos syndrome type III in pregnancy.
    Atalla A; Page I
    Obstet Gynecol; 1988 Mar; 71(3 Pt 2):508-9. PubMed ID: 3347446
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.