Sakai K - Search Results

1

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H. Akiyama M, et al. Among authors: sakai k. J Clin Invest. 2005 Jul;115(7):1777-84. doi: 10.1172/JCI24834. J Clin Invest. 2005. PMID: 16007253 Free PMC article.

2

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis.

Akiyama M, Sakai K, Wolff G, Hausser I, McMillan JR, Sawamura D, Shimizu H. Akiyama M, et al. Among authors: sakai k. Br J Dermatol. 2006 Nov;155(5):1064-6. doi: 10.1111/j.1365-2133.2006.07434.x. Br J Dermatol. 2006. PMID: 17034544 No abstract available.

3

Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.

Akiyama M, Sakai K, Sugiyama-Nakagiri Y, Yamanaka Y, McMillan JR, Sawamura D, Niizeki H, Miyagawa S, Shimizu H. Akiyama M, et al. Among authors: sakai k. J Invest Dermatol. 2006 Jul;126(7):1518-23. doi: 10.1038/sj.jid.5700295. Epub 2006 May 4. J Invest Dermatol. 2006. PMID: 16675967 Free article.

4

DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.

Akiyama M, Titeux M, Sakai K, McMillan JR, Tonasso L, Calvas P, Jossic F, Hovnanian A, Shimizu H. Akiyama M, et al. Among authors: sakai k. J Invest Dermatol. 2007 Mar;127(3):568-73. doi: 10.1038/sj.jid.5700617. Epub 2006 Nov 2. J Invest Dermatol. 2007. PMID: 17082782 Free article.

5

Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis.

Yamanaka Y, Akiyama M, Sugiyama-Nakagiri Y, Sakai K, Goto M, McMillan JR, Ota M, Sawamura D, Shimizu H. Yamanaka Y, et al. Among authors: sakai k. Am J Pathol. 2007 Jul;171(1):43-52. doi: 10.2353/ajpath.2007.061207. Am J Pathol. 2007. PMID: 17591952 Free PMC article.

6

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

Akiyama M, Sakai K, Ogawa M, McMillan JR, Sawamura D, Shimizu H. Akiyama M, et al. Among authors: sakai k. Muscle Nerve. 2007 Dec;36(6):856-9. doi: 10.1002/mus.20869. Muscle Nerve. 2007. PMID: 17657808

7

Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.

Akiyama M, Sakai K, Sato T, McMillan JR, Goto M, Sawamura D, Shimizu H. Akiyama M, et al. Among authors: sakai k. Dermatology. 2007;215(2):155-9. doi: 10.1159/000104269. Dermatology. 2007. PMID: 17684380

8

Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.

Sakai K, Akiyama M, Sugiyama-Nakagiri Y, McMillan JR, Sawamura D, Shimizu H. Sakai K, et al. Exp Dermatol. 2007 Nov;16(11):920-6. doi: 10.1111/j.1600-0625.2007.00614.x. Exp Dermatol. 2007. PMID: 17927575

9

DNA-based prenatal exclusion of harlequin ichthyosis.

Yanagi T, Akiyama M, Sakai K, Nagasaki A, Ozawa N, Kosaki R, Sago H, Shimizu H. Yanagi T, et al. Among authors: sakai k. J Am Acad Dermatol. 2008 Apr;58(4):653-6. doi: 10.1016/j.jaad.2007.12.018. Epub 2008 Feb 8. J Am Acad Dermatol. 2008. PMID: 18262308

10

Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.

Yanagi T, Akiyama M, Nishihara H, Sakai K, Nishie W, Tanaka S, Shimizu H. Yanagi T, et al. Among authors: sakai k. Hum Mol Genet. 2008 Oct 1;17(19):3075-83. doi: 10.1093/hmg/ddn204. Epub 2008 Jul 15. Hum Mol Genet. 2008. PMID: 18632686

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