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Results: 1 to 20 of 49

References for PMC Articles for PubMed (Select 15254584)

1.

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 15;12(18):2269-76. Epub 2003 Jul 22.

2.

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome.

Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC.

Nat Genet. 2003 Mar;33(3):407-11. Epub 2003 Feb 24.

PMID:
12598898
3.

Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences.

Charbonneau NL, Dzamba BJ, Ono RN, Keene DR, Corson GM, Reinhardt DP, Sakai LY.

J Biol Chem. 2003 Jan 24;278(4):2740-9. Epub 2002 Nov 11.

4.

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U.

Am J Hum Genet. 2002 Aug;71(2):223-37. Epub 2002 Jun 14.

5.

Interactions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assembly.

Tiedemann K, Bätge B, Müller PK, Reinhardt DP.

J Biol Chem. 2001 Sep 21;276(38):36035-42. Epub 2001 Jul 18.

6.

FBN1 exon 2 splicing error in a patient with Marfan syndrome.

Guo D, Tan FK, Cantu A, Plon SE, Milewicz DM.

Am J Med Genet. 2001 Jun 15;101(2):130-4.

PMID:
11391655
7.

The supramolecular organization of fibrillin-rich microfibrils.

Baldock C, Koster AJ, Ziese U, Rock MJ, Sherratt MJ, Kadler KE, Shuttleworth CA, Kielty CM.

J Cell Biol. 2001 Mar 5;152(5):1045-56.

8.

Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome.

Bunton TE, Biery NJ, Myers L, Gayraud B, Ramirez F, Dietz HC.

Circ Res. 2001 Jan 19;88(1):37-43.

9.

Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments.

Booms P, Tiecke F, Rosenberg T, Hagemeier C, Robinson PN.

Hum Genet. 2000 Sep;107(3):216-24.

PMID:
11071382
10.
11.

Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly.

Trask TM, Trask BC, Ritty TM, Abrams WR, Rosenbloom J, Mecham RP.

J Biol Chem. 2000 Aug 11;275(32):24400-6.

12.
13.

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.

PMID:
10647894
15.
16.

Nonsense-mediated mRNA decay in health and disease.

Frischmeyer PA, Dietz HC.

Hum Mol Genet. 1999;8(10):1893-900. Review.

17.
18.

Fibrillin degradation by matrix metalloproteinases: identification of amino- and carboxy-terminal cleavage sites.

Hindson VJ, Ashworth JL, Rock MJ, Cunliffe S, Shuttleworth CA, Kielty CM.

FEBS Lett. 1999 Jun 11;452(3):195-8.

19.

N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: a possible first step in microfibril assembly.

Trask TM, Ritty TM, Broekelmann T, Tisdale C, Mecham RP.

Biochem J. 1999 Jun 15;340 ( Pt 3):693-701.

20.

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1.

Pereira L, Lee SY, Gayraud B, Andrikopoulos K, Shapiro SD, Bunton T, Biery NJ, Dietz HC, Sakai LY, Ramirez F.

Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3819-23.

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