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]