Sakai L - Search Results

1

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

2

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.

3

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

4

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. Neptune ER, et al. Among authors: sakai ly. Nat Genet. 2003 Mar;33(3):407-11. doi: 10.1038/ng1116. Epub 2003 Feb 24. Nat Genet. 2003. PMID: 12598898

5

Microenvironmental regulation by fibrillin-1.

Sengle G, Tsutsui K, Keene DR, Tufa SF, Carlson EJ, Charbonneau NL, Ono RN, Sasaki T, Wirtz MK, Samples JR, Fessler LI, Fessler JH, Sekiguchi K, Hayflick SJ, Sakai LY. Sengle G, et al. Among authors: sakai ly. PLoS Genet. 2012 Jan;8(1):e1002425. doi: 10.1371/journal.pgen.1002425. Epub 2012 Jan 5. PLoS Genet. 2012. PMID: 22242013 Free PMC article.

6

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.

Sakai LY, Keene DR, Renard M, De Backer J. Sakai LY, et al. Gene. 2016 Oct 10;591(1):279-291. doi: 10.1016/j.gene.2016.07.033. Epub 2016 Jul 18. Gene. 2016. PMID: 27437668 Free PMC article. Review.

7

The fibrillin microfibril scaffold: A niche for growth factors and mechanosensation?

Sengle G, Sakai LY. Sengle G, et al. Matrix Biol. 2015 Sep;47:3-12. doi: 10.1016/j.matbio.2015.05.002. Epub 2015 May 7. Matrix Biol. 2015. PMID: 25957947 Free article. Review.

8

Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans.

Campens L, Renard M, Trachet B, Segers P, Muino Mosquera L, De Sutter J, Sakai L, De Paepe A, De Backer J. Campens L, et al. Among authors: sakai l. Pediatr Res. 2015 Sep;78(3):256-63. doi: 10.1038/pr.2015.110. Epub 2015 Jun 4. Pediatr Res. 2015. PMID: 26042521

9

Sex, pregnancy and aortic disease in Marfan syndrome.

Renard M, Muiño-Mosquera L, Manalo EC, Tufa S, Carlson EJ, Keene DR, De Backer J, Sakai LY. Renard M, et al. Among authors: sakai ly. PLoS One. 2017 Jul 14;12(7):e0181166. doi: 10.1371/journal.pone.0181166. eCollection 2017. PLoS One. 2017. PMID: 28708846 Free PMC article.

10

Fibrillin protein pleiotropy: Acromelic dysplasias.

Sakai LY, Keene DR. Sakai LY, et al. Matrix Biol. 2019 Jul;80:6-13. doi: 10.1016/j.matbio.2018.09.005. Epub 2018 Sep 13. Matrix Biol. 2019. PMID: 30219651 Review.

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