182 related articles for article (PubMed ID: 16905551)
1. Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.
Mellody KT; Freeman LJ; Baldock C; Jowitt TA; Siegler V; Raynal BD; Cain SA; Wess TJ; Shuttleworth CA; Kielty CM
J Biol Chem; 2006 Oct; 281(42):31854-62. PubMed ID: 16905551
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Effects of the N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1.
Yuan X; Werner JM; Lack J; Knott V; Handford PA; Campbell ID; Downing AK
J Mol Biol; 2002 Feb; 316(1):113-25. PubMed ID: 11829507
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.
Pepe G; Giusti B; Evangelisti L; Porciani MC; Brunelli T; Giurlani L; Attanasio M; Fattori R; Bagni C; Comeglio P; Abbate R; Gensini GF
Clin Genet; 2001 Jun; 59(6):444-50. PubMed ID: 11453977
[TBL] [Abstract][Full Text] [Related]
7. Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.
Whiteman P; Willis AC; Warner A; Brown J; Redfield C; Handford PA
Hum Mol Genet; 2007 Apr; 16(8):907-18. PubMed ID: 17324963
[TBL] [Abstract][Full Text] [Related]
8. The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN; Godfrey M
J Med Genet; 2000 Jan; 37(1):9-25. PubMed ID: 10633129
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Fibrillin domain folding and calcium binding: significance to Marfan syndrome.
Wu YS; Bevilacqua VL; Berg JM
Chem Biol; 1995 Feb; 2(2):91-7. PubMed ID: 9383409
[TBL] [Abstract][Full Text] [Related]
13. The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.
Li D; Yu J; Gu F; Pang X; Ma X; Li R; Liu N; Ma X
Genet Test; 2008 Jun; 12(2):325-30. PubMed ID: 18471089
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Rommel K; Karck M; Haverich A; von Kodolitsch Y; Rybczynski M; Müller G; Singh KK; Schmidtke J; Arslan-Kirchner M
Hum Mutat; 2005 Dec; 26(6):529-39. PubMed ID: 16220557
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
Palz M; Tiecke F; Booms P; Göldner B; Rosenberg T; Fuchs J; Skovby F; Schumacher H; Kaufmann UC; von Kodolitsch Y; Nienaber CA; Leitner C; Katzke S; Vetter B; Hagemeier C; Robinson PN
Am J Med Genet; 2000 Mar; 91(3):212-21. PubMed ID: 10756346
[TBL] [Abstract][Full Text] [Related]
18. Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly.
Kielty CM; Rantamäki T; Child AH; Shuttleworth CA; Peltonen L
J Cell Sci; 1995 Mar; 108 ( Pt 3)():1317-23. PubMed ID: 7622614
[TBL] [Abstract][Full Text] [Related]
19. Marfan syndrome: new clues to genotype-phenotype correlations.
Ramirez F; Gayraud B; Pereira L
Ann Med; 1999 Jun; 31(3):202-7. PubMed ID: 10442675
[TBL] [Abstract][Full Text] [Related]
20. Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context.
McGettrick AJ; Knott V; Willis A; Handford PA
Hum Mol Genet; 2000 Aug; 9(13):1987-94. PubMed ID: 10942427
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
