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 *

209 related articles for article (PubMed ID: 7945217)

  • 1. 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]  

  • 2. 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]  

  • 3. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
    Milewicz DM; Grossfield J; Cao SN; Kielty C; Covitz W; Jewett T
    J Clin Invest; 1995 May; 95(5):2373-8. PubMed ID: 7738200
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
    Karttunen L; Raghunath M; Lönnqvist L; Peltonen L
    Am J Hum Genet; 1994 Dec; 55(6):1083-91. PubMed ID: 7977366
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects.
    Kielty CM; Davies SJ; Phillips JE; Jones CJ; Shuttleworth CA; Charles SJ
    J Med Genet; 1995 Jan; 32(1):1-6. PubMed ID: 7897619
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome.
    Beene LC; Wang LW; Hubmacher D; Keene DR; Reinhardt DP; Annis DS; Mosher DF; Mecham RP; Traboulsi EI; Apte SS
    Invest Ophthalmol Vis Sci; 2013 Dec; 54(13):8337-44. PubMed ID: 24265020
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
    Whiteman P; Handford PA
    Hum Mol Genet; 2003 Apr; 12(7):727-37. PubMed ID: 12651868
    [TBL] [Abstract][Full Text] [Related]  

  • 12. In vivo studies of mutant fibrillin-1 microfibrils.
    Charbonneau NL; Carlson EJ; Tufa S; Sengle G; Manalo EC; Carlberg VM; Ramirez F; Keene DR; Sakai LY
    J Biol Chem; 2010 Aug; 285(32):24943-55. PubMed ID: 20529844
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.
    Dietz HC; Pyeritz RE
    Hum Mol Genet; 1995; 4 Spec No():1799-809. PubMed ID: 8541880
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains.
    Cardy CM; Handford PA
    J Mol Biol; 1998 Mar; 276(5):855-60. PubMed ID: 9566191
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils.
    Lin G; Tiedemann K; Vollbrandt T; Peters H; Batge B; Brinckmann J; Reinhardt DP
    J Biol Chem; 2002 Dec; 277(52):50795-804. PubMed ID: 12399449
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular analysis of eight mutations in FBN1.
    Halliday D; Hutchinson S; Kettle S; Firth H; Wordsworth P; Handford PA
    Hum Genet; 1999 Dec; 105(6):587-97. PubMed ID: 10647894
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.
    Zeyer KA; Reinhardt DP
    Mutat Res Rev Mutat Res; 2015; 765():7-18. PubMed ID: 26281765
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fibrillin-1, a calcium binding protein of extracellular matrix.
    Handford PA
    Biochim Biophys Acta; 2000 Dec; 1498(2-3):84-90. PubMed ID: 11108952
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.