Sakai LY - Search Results

1

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.

2

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Dietz HC, et al. Among authors: sakai ly. J Clin Invest. 1992 May;89(5):1674-80. doi: 10.1172/JCI115766. J Clin Invest. 1992. PMID: 1569206 Free PMC article.

3

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

4

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end.

Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY. Corson GM, et al. Among authors: sakai ly. Genomics. 1993 Aug;17(2):476-84. doi: 10.1006/geno.1993.1350. Genomics. 1993. PMID: 7691719

5

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.

6

The structure and function of fibrillin.

Reinhardt DP, Chalberg SC, Sakai LY. Reinhardt DP, et al. Among authors: sakai ly. Ciba Found Symp. 1995;192:128-43; discussion 143-7. doi: 10.1002/9780470514771.ch7. Ciba Found Symp. 1995. PMID: 8575254 Review.

7

Partial sequence of a candidate gene for the Marfan syndrome.

Maslen CL, Corson GM, Maddox BK, Glanville RW, Sakai LY. Maslen CL, et al. Among authors: sakai ly. Nature. 1991 Jul 25;352(6333):334-7. doi: 10.1038/352334a0. Nature. 1991. PMID: 1852207

8

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC. Loeys BL, et al. Among authors: sakai ly. Sci Transl Med. 2010 Mar 17;2(23):23ra20. doi: 10.1126/scitranslmed.3000488. Sci Transl Med. 2010. PMID: 20375004 Free PMC article.

9

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome.

Hollister DW, Godfrey M, Sakai LY, Pyeritz RE. Hollister DW, et al. Among authors: sakai ly. N Engl J Med. 1990 Jul 19;323(3):152-9. doi: 10.1056/NEJM199007193230303. N Engl J Med. 1990. PMID: 2194127 Free article.

10

Fibrillin-1: organization in microfibrils and structural properties.

Reinhardt DP, Keene DR, Corson GM, Pöschl E, Bächinger HP, Gambee JE, Sakai LY. Reinhardt DP, et al. Among authors: sakai ly. J Mol Biol. 1996 Apr 26;258(1):104-16. doi: 10.1006/jmbi.1996.0237. J Mol Biol. 1996. PMID: 8613981

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