BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 8040255)

  • 1. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.
    Aoyama T; Francke U; Dietz HC; Furthmayr H
    J Clin Invest; 1994 Jul; 94(1):130-7. PubMed ID: 8040255
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dermal fibroblast culture as a model system for studies of fibrillin assembly and pathogenetic mechanisms: defects in distinct groups of individuals with Marfan's syndrome.
    Brenn T; Aoyama T; Francke U; Furthmayr H
    Lab Invest; 1996 Sep; 75(3):389-402. PubMed ID: 8804362
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.
    Eldadah ZA; Brenn T; Furthmayr H; Dietz HC
    J Clin Invest; 1995 Feb; 95(2):874-80. PubMed ID: 7860770
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.
    Aoyama T; Tynan K; Dietz HC; Francke U; Furthmayr H
    Hum Mol Genet; 1993 Dec; 2(12):2135-40. PubMed ID: 8111384
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation.
    Raghunath M; Kielty CM; Steinmann B
    J Mol Biol; 1995 May; 248(5):901-9. PubMed ID: 7760331
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.
    Aoyama T; Francke U; Gasner C; Furthmayr H
    Am J Med Genet; 1995 Aug; 58(2):169-76. PubMed ID: 8533811
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.
    Raghunath M; Kielty CM; Kainulainen K; Child A; Peltonen L; Steinmann B
    Biochem J; 1994 Sep; 302 ( Pt 3)(Pt 3):889-96. PubMed ID: 7945217
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
    Schrijver I; Liu W; Brenn T; Furthmayr H; Francke U
    Am J Hum Genet; 1999 Oct; 65(4):1007-20. PubMed ID: 10486319
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome.
    Kielty CM; Shuttleworth CA
    J Cell Biol; 1994 Mar; 124(6):997-1004. PubMed ID: 8132720
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.
    Lönnqvist L; Karttunen L; Rantamäki T; Kielty C; Raghunath M; Peltonen L
    Genomics; 1996 Sep; 36(3):468-75. PubMed ID: 8884270
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene.
    Gibson MA; Ellis SL; Ades LC; Haan E; Cleary EG
    Eur J Biochem; 1998 Aug; 256(1):221-8. PubMed ID: 9746367
    [TBL] [Abstract][Full Text] [Related]  

  • 12. New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse.
    Gayraud B; Keene DR; Sakai LY; Ramirez F
    J Cell Biol; 2000 Aug; 150(3):667-80. PubMed ID: 10931876
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.
    Superti-Furga A; Raghunath M; Willems PJ
    J Med Genet; 1992 Dec; 29(12):875-8. PubMed ID: 1479602
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.
    Milewicz DM; Pyeritz RE; Crawford ES; Byers PH
    J Clin Invest; 1992 Jan; 89(1):79-86. PubMed ID: 1729284
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.
    Liu W; Qian C; Comeau K; Brenn T; Furthmayr H; Francke U
    Hum Mol Genet; 1996 Oct; 5(10):1581-7. PubMed ID: 8894692
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Defective calcium binding to fibrillin-1: consequence of an N2144S change for fibrillin-1 structure and function.
    Kettle S; Yuan X; Grundy G; Knott V; Downing AK; Handford PA
    J Mol Biol; 1999 Jan; 285(3):1277-87. PubMed ID: 9887276
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Abnormal fibrillin metabolism in bovine Marfan syndrome.
    Potter KA; Hoffman Y; Sakai LY; Byers PH; Besser TE; Milewicz DM
    Am J Pathol; 1993 Mar; 142(3):803-10. PubMed ID: 8456941
    [TBL] [Abstract][Full Text] [Related]  

  • 18. RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome.
    Booms P; Pregla R; Ney A; Barthel F; Reinhardt DP; Pletschacher A; Mundlos S; Robinson PN
    Hum Genet; 2005 Jan; 116(1-2):51-61. PubMed ID: 15517394
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts.
    Kielty CM; Phillips JE; Child AH; Pope FM; Shuttleworth CA
    Matrix Biol; 1994 Mar; 14(2):191-9. PubMed ID: 8061930
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
    Hutchinson S; Furger A; Halliday D; Judge DP; Jefferson A; Dietz HC; Firth H; Handford PA
    Hum Mol Genet; 2003 Sep; 12(18):2269-76. PubMed ID: 12915484
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.