158 related articles for article (PubMed ID: 8040255)
21. 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]
22. 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]
23. Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
Kirschner R; Hubmacher D; Iyengar G; Kaur J; Fagotto-Kaufmann C; Brömme D; Bartels R; Reinhardt DP
J Biol Chem; 2011 Sep; 286(37):32810-23. PubMed ID: 21784848
[TBL] [Abstract][Full Text] [Related]
24. Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.
Milewicz DM
Tex Heart Inst J; 1994; 21(1):22-9. PubMed ID: 8180508
[TBL] [Abstract][Full Text] [Related]
25. Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.
Raghunath M; Superti-Furga A; Godfrey M; Steinmann B
Hum Genet; 1993 Jan; 90(5):511-5. PubMed ID: 8428751
[TBL] [Abstract][Full Text] [Related]
26. Fibrillin-1 mgΔ(lpn) Marfan syndrome mutation associates with preserved proteostasis and bypass of a protein disulfide isomerase-dependent quality checkpoint.
Meirelles T; Araujo TLS; Nolasco P; Moretti AIS; Guido MC; Debbas V; Pereira LV; Laurindo FR
Int J Biochem Cell Biol; 2016 Feb; 71():81-91. PubMed ID: 26718974
[TBL] [Abstract][Full Text] [Related]
27. The molecular basis of Marfan syndrome.
Maslen CL; Glanville RW
DNA Cell Biol; 1993 Sep; 12(7):561-72. PubMed ID: 8397814
[TBL] [Abstract][Full Text] [Related]
28. A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome.
Mir S; Wheatley HM; Hussels IE; Whittum-Hudson JA; Traboulsi EI
Invest Ophthalmol Vis Sci; 1998 Jan; 39(1):84-93. PubMed ID: 9430549
[TBL] [Abstract][Full Text] [Related]
29. Expression of fibrillins and other microfibril-associated proteins in human bone and osteoblast-like cells.
Kitahama S; Gibson MA; Hatzinikolas G; Hay S; Kuliwaba JL; Evdokiou A; Atkins GJ; Findlay DM
Bone; 2000 Jul; 27(1):61-7. PubMed ID: 10865210
[TBL] [Abstract][Full Text] [Related]
30. Characterisation of fibrillin-1 cDNA clones in a human fibroblast cell line that assembles microfibrils.
Kettle S; Card CM; Hutchinson S; Sykes B; Handford PA
Int J Biochem Cell Biol; 2000 Feb; 32(2):201-14. PubMed ID: 10687954
[TBL] [Abstract][Full Text] [Related]
31. The fibrillin microfibril scaffold: A niche for growth factors and mechanosensation?
Sengle G; Sakai LY
Matrix Biol; 2015 Sep; 47():3-12. PubMed ID: 25957947
[TBL] [Abstract][Full Text] [Related]
32. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
Dietz HC; McIntosh I; Sakai LY; Corson GM; Chalberg SC; Pyeritz RE; Francomano CA
Genomics; 1993 Aug; 17(2):468-75. PubMed ID: 8406497
[TBL] [Abstract][Full Text] [Related]
33. Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.
Godfrey M; Raghunath M; Cisler J; Bevins CL; DePaepe A; Di Rocco M; Gregoritch J; Imaizumi K; Kaplan P; Kuroki Y
Am J Pathol; 1995 Jun; 146(6):1414-21. PubMed ID: 7778680
[TBL] [Abstract][Full Text] [Related]
34. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Kainulainen K; Karttunen L; Puhakka L; Sakai L; Peltonen L
Nat Genet; 1994 Jan; 6(1):64-9. PubMed ID: 8136837
[TBL] [Abstract][Full Text] [Related]
35. Quantitation of fibrillin immunofluorescence in fibroblast cultures in the Marfan syndrome.
Schaefer GB; Godfrey M
Clin Genet; 1995 Mar; 47(3):144-9. PubMed ID: 7634537
[TBL] [Abstract][Full Text] [Related]
36. Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.
Hubmacher D; Cirulis JT; Miao M; Keeley FW; Reinhardt DP
J Biol Chem; 2010 Jan; 285(2):1188-98. PubMed ID: 19889633
[TBL] [Abstract][Full Text] [Related]
37. The fibrillin-Marfan syndrome connection.
Ramirez F; Pereira L; Zhang H; Lee B
Bioessays; 1993 Sep; 15(9):589-94. PubMed ID: 8240311
[TBL] [Abstract][Full Text] [Related]
38. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
Dietz HC; Pyeritz RE; Puffenberger EG; Kendzior RJ; Corson GM; Maslen CL; Sakai LY; Francomano CA; Cutting GR
J Clin Invest; 1992 May; 89(5):1674-80. PubMed ID: 1569206
[TBL] [Abstract][Full Text] [Related]
39. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
Dietz HC; Saraiva JM; Pyeritz RE; Cutting GR; Francomano CA
Hum Mutat; 1992; 1(5):366-74. PubMed ID: 1301946
[TBL] [Abstract][Full Text] [Related]
40. Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis.
Traboulsi EI; Whittum-Hudson JA; Mir SH; Maumenee IH
Ophthalmic Genet; 2000 Mar; 21(1):9-15. PubMed ID: 10779844
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]