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Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Kainulainen K, et al. Among authors: sakai l. Nat Genet. 1994 Jan;6(1):64-9. doi: 10.1038/ng0194-64. Nat Genet. 1994. PMID: 8136837
Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.
Lönnqvist L, Reinhardt D, Sakai L, Peltonen L. Lönnqvist L, et al. Among authors: sakai l. Hum Mol Genet. 1998 Dec;7(13):2039-44. doi: 10.1093/hmg/7.13.2039. Hum Mol Genet. 1998. PMID: 9817919
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.
Boileau C, Jondeau G, Babron MC, Coulon M, Alexandre JA, Sakai L, Melki J, Delorme G, Dubourg O, Bonaïti-Pellié C, et al. Boileau C, et al. Among authors: sakai l. Am J Hum Genet. 1993 Jul;53(1):46-54. Am J Hum Genet. 1993. PMID: 8317497 Free PMC article.
A trans-acting protein effect causes severe eye malformation in the Mp mouse.
Rainger J, Keighren M, Keene DR, Charbonneau NL, Rainger JK, Fisher M, Mella S, Huang JT, Rose L, van't Hof R, Sakai LY, Jackson IJ, Fitzpatrick DR. Rainger J, et al. Among authors: sakai ly. PLoS Genet. 2013;9(12):e1003998. doi: 10.1371/journal.pgen.1003998. Epub 2013 Dec 12. PLoS Genet. 2013. PMID: 24348270 Free PMC article.
Marfan's syndrome and other microfibrillar diseases.
Dietz HC, Ramirez F, Sakai LY. Dietz HC, et al. Among authors: sakai ly. Adv Hum Genet. 1994;22:153-86. doi: 10.1007/978-1-4757-9062-7_4. Adv Hum Genet. 1994. PMID: 7762452 Review. No abstract available.
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
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
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.
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
Calcium stabilizes fibrillin-1 against proteolytic degradation.
Reinhardt DP, Ono RN, Sakai LY. Reinhardt DP, et al. Among authors: sakai ly. J Biol Chem. 1997 Jan 10;272(2):1231-6. doi: 10.1074/jbc.272.2.1231. J Biol Chem. 1997. PMID: 8995426
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