Sakai L - Search Results

1

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.

2

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

3

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M. Elbitar S, et al. Among authors: sakai ly. Genet Med. 2021 Jan;23(1):111-122. doi: 10.1038/s41436-020-00947-4. Epub 2020 Aug 28. Genet Med. 2021. PMID: 32855533 Free PMC article.

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

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

6

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.

Judge DP, Biery NJ, Keene DR, Geubtner J, Myers L, Huso DL, Sakai LY, Dietz HC. Judge DP, et al. Among authors: sakai ly. J Clin Invest. 2004 Jul;114(2):172-81. doi: 10.1172/JCI20641. J Clin Invest. 2004. PMID: 15254584 Free PMC article.

7

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.

8

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Among authors: sakai ly. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.

9

Versican interacts with fibrillin-1 and links extracellular microfibrils to other connective tissue networks.

Isogai Z, Aspberg A, Keene DR, Ono RN, Reinhardt DP, Sakai LY. Isogai Z, et al. J Biol Chem. 2002 Feb 8;277(6):4565-72. doi: 10.1074/jbc.M110583200. Epub 2001 Nov 28. J Biol Chem. 2002. PMID: 11726670 Free article.

10

Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development.

Quondamatteo F, Reinhardt DP, Charbonneau NL, Pophal G, Sakai LY, Herken R. Quondamatteo F, et al. Among authors: sakai ly. Matrix Biol. 2002 Dec;21(8):637-46. doi: 10.1016/s0945-053x(02)00100-2. Matrix Biol. 2002. PMID: 12524050

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