Shimizu H - Search Results

1

An update on molecular aspects of the non-syndromic ichthyoses.

Akiyama M, Shimizu H. Akiyama M, et al. Among authors: shimizu h. Exp Dermatol. 2008 May;17(5):373-82. doi: 10.1111/j.1600-0625.2007.00691.x. Epub 2008 Mar 12. Exp Dermatol. 2008. PMID: 18341575 Review.

2

Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.

Akiyama M, Sawamura D, Nomura Y, Sugawara M, Shimizu H. Akiyama M, et al. Among authors: shimizu h. J Invest Dermatol. 2003 Nov;121(5):1029-34. doi: 10.1046/j.1523-1747.2003.12520.x. J Invest Dermatol. 2003. PMID: 14708602 Free article.

3

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: shimizu h. J Clin Invest. 2005 Jul;115(7):1777-84. doi: 10.1172/JCI24834. J Clin Invest. 2005. PMID: 16007253 Free PMC article.

4

Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis.

Tomita Y, Akiyama M, Shimizu H. Tomita Y, et al. Among authors: shimizu h. Exp Dermatol. 2005 Aug;14(8):619-24. doi: 10.1111/j.0906-6705.2005.00341.x. Exp Dermatol. 2005. PMID: 16026584

5

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: shimizu h. 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.

6

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: shimizu h. 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.

7

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis.

Nomura T, Sandilands A, Akiyama M, Liao H, Evans AT, Sakai K, Ota M, Sugiura H, Yamamoto K, Sato H, Palmer CN, Smith FJ, McLean WH, Shimizu H. Nomura T, et al. Among authors: shimizu h. J Allergy Clin Immunol. 2007 Feb;119(2):434-40. doi: 10.1016/j.jaci.2006.12.646. J Allergy Clin Immunol. 2007. PMID: 17291859

8

Low-grade myxofibrosarcoma invaded into the underlying skeletal muscle.

Motoda N, Akiyama M, Aoyagi S, Sawamura D, Shimizu H. Motoda N, et al. Among authors: shimizu h. J Dermatol. 2007 Aug;34(8):561-4. doi: 10.1111/j.1346-8138.2007.00331.x. J Dermatol. 2007. PMID: 17683388

9

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: shimizu h. Dermatology. 2007;215(2):155-9. doi: 10.1159/000104269. Dermatology. 2007. PMID: 17684380

10

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. Among authors: shimizu h. Exp Dermatol. 2007 Nov;16(11):920-6. doi: 10.1111/j.1600-0625.2007.00614.x. Exp Dermatol. 2007. PMID: 17927575

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