Sakai LY - Search Results

1

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhänen L, Palotie A, Kaitila I, Peltonen L. Kainulainen K, et al. Among authors: sakai ly. Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):5917-21. doi: 10.1073/pnas.89.13.5917. Proc Natl Acad Sci U S A. 1992. PMID: 1631074 Free PMC article.

2

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. Pereira L, et al. Among authors: sakai ly. Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3819-23. doi: 10.1073/pnas.96.7.3819. Proc Natl Acad Sci U S A. 1999. PMID: 10097121 Free PMC article.

3

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1.

Magenis RE, Maslen CL, Smith L, Allen L, Sakai LY. Magenis RE, et al. Among authors: sakai ly. Genomics. 1991 Oct;11(2):346-51. doi: 10.1016/0888-7543(91)90142-2. Genomics. 1991. PMID: 1769651

4

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

Pereira L, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Biery NJ, Bunton T, Dietz HC, Ramirez F. Pereira L, et al. Among authors: sakai ly. Nat Genet. 1997 Oct;17(2):218-22. doi: 10.1038/ng1097-218. Nat Genet. 1997. PMID: 9326947

5

Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome.

Reinhardt DP, Ono RN, Notbohm H, Müller PK, Bächinger HP, Sakai LY. Reinhardt DP, et al. Among authors: sakai ly. J Biol Chem. 2000 Apr 21;275(16):12339-45. doi: 10.1074/jbc.275.16.12339. J Biol Chem. 2000. PMID: 10766875 Free article.

6

Abnormal fibrillin metabolism in bovine Marfan syndrome.

Potter KA, Hoffman Y, Sakai LY, Byers PH, Besser TE, Milewicz DM. Potter KA, et al. Among authors: sakai ly. Am J Pathol. 1993 Mar;142(3):803-10. Am J Pathol. 1993. PMID: 8456941 Free PMC article.

7

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Dietz HC, et al. Among authors: sakai ly. Nature. 1991 Jul 25;352(6333):337-9. doi: 10.1038/352337a0. Nature. 1991. PMID: 1852208

8

A BamHI polymorphism at the fibrillin (FBN) locus.

Clark BA, Maslen CL, Sakai LY, Dhalimi MA, Litt R, Litt M. Clark BA, et al. Among authors: sakai ly. Nucleic Acids Res. 1991 Aug 11;19(15):4309. doi: 10.1093/nar/19.15.4309. Nucleic Acids Res. 1991. PMID: 1678510 Free PMC article.

9

Fibrillin: monomers and microfibrils.

Sakai LY, Keene DR. Sakai LY, et al. Methods Enzymol. 1994;245:29-52. doi: 10.1016/0076-6879(94)45004-8. Methods Enzymol. 1994. PMID: 7760739 No abstract available.

10

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. Dietz HC, et al. Among authors: sakai ly. Genomics. 1993 Aug;17(2):468-75. doi: 10.1006/geno.1993.1349. Genomics. 1993. PMID: 8406497 Free article.

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