67 related articles for article (PubMed ID: 7945217)
1. Fibrillins 1 and 2 perform partially overlapping functions during aortic development.
Carta L; Pereira L; Arteaga-Solis E; Lee-Arteaga SY; Lenart B; Starcher B; Merkel CA; Sukoyan M; Kerkis A; Hazeki N; Keene DR; Sakai LY; Ramirez F
J Biol Chem; 2006 Mar; 281(12):8016-23. PubMed ID: 16407178
[TBL] [Abstract][Full Text] [Related]
2. Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.
Buki G; Szalai R; Pinter A; Hadzsiev K; Melegh B; Rauch T; Bene J
Mol Genet Genomic Med; 2023 Jul; 11(7):e2166. PubMed ID: 36945115
[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. Profibrillin-1 maturation by human dermal fibroblasts: proteolytic processing and molecular chaperones.
Wallis DD; Putnam EA; Cretoiu JS; Carmical SG; Cao SN; Thomas G; Milewicz DM
J Cell Biochem; 2003 Oct; 90(3):641-52. PubMed ID: 14523997
[TBL] [Abstract][Full Text] [Related]
5. Multi-exon deletions of the FBN1 gene in Marfan syndrome.
Liu W; Schrijver I; Brenn T; Furthmayr H; Francke U
BMC Med Genet; 2001; 2():11. PubMed ID: 11710961
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. Microfibrillar assemblies of foetal bovine skin. Developmental expression and relative abundance of type VI collagen and fibrillin.
Kielty CM; Berry L; Whittaker SP; Grant ME; Shuttleworth CA
Matrix; 1993 Mar; 13(2):103-12. PubMed ID: 8492740
[TBL] [Abstract][Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
