Sato-Matsumura K - Search Results

1

COL7A1 mutation G2037E causes epidermal retention of type VII collagen.

Sawamura D, Sato-Matsumura K, Shibata S, Tashiro A, Furue M, Goto M, Sakai K, Akiyama M, Nakamura H, Shimizu H. Sawamura D, et al. J Hum Genet. 2006;51(5):418-423. doi: 10.1007/s10038-006-0378-5. Epub 2006 Mar 24. J Hum Genet. 2006. PMID: 16557343 Free article.

2

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H. Sawamura D, et al. J Hum Genet. 2005;50(10):543-546. doi: 10.1007/s10038-005-0290-4. Epub 2005 Sep 28. J Hum Genet. 2005. PMID: 16189623 Free article.

3

Erratum to: Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H. Sawamura D, et al. J Hum Genet. 2006 Sep;51(9):839. doi: 10.1007/s10038-006-0046-9. J Hum Genet. 2006. PMID: 32033509

4

Exclusion of COL7A1 mutation in Kindler syndrome.

Yasukawa K, Sato-Matsumura KC, McMillan J, Tsuchiya K, Shimizu H. Yasukawa K, et al. J Am Acad Dermatol. 2002 Mar;46(3):447-50. doi: 10.1067/mjd.2002.117523. J Am Acad Dermatol. 2002. PMID: 11862187

5

The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.

Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H. Nakamura H, et al. J Dermatol Sci. 2004 May;34(3):195-200. doi: 10.1016/j.jdermsci.2004.02.005. J Dermatol Sci. 2004. PMID: 15113589

6

The majority of keratinocytes incorporate intradermally injected plasmid DNA regardless of size but only a small proportion of cells can express the gene product.

Sawamura D, Yasukawa K, Kodama K, Yokota K, Sato-Matsumura KC, Toshihiro T, Shimizu H. Sawamura D, et al. J Invest Dermatol. 2002 Jun;118(6):967-71. doi: 10.1046/j.1523-1747.2002.01756.x. J Invest Dermatol. 2002. PMID: 12060390 Free article.

7

A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

Sato-Matsumura KC, Sawamura D, Goto M, Goto M, Nakamura H, Shimizu H. Sato-Matsumura KC, et al. Acta Derm Venereol. 2003;83(2):137-8. doi: 10.1080/00015550310007526. Acta Derm Venereol. 2003. PMID: 12735646 Free article. No abstract available.

8

Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome.

Kawasaki H, Sawamura D, Nakazawa H, Hattori N, Goto M, Sato-Matsumura KC, Akiyama M, Shimizu H. Kawasaki H, et al. Br J Dermatol. 2005 Jan;152(1):142-5. doi: 10.1111/j.1365-2133.2004.06283.x. Br J Dermatol. 2005. PMID: 15656814

9

Two cases of atypical melanocytic lesions in recessive dystrophic epidermolysis bullosa infants.

Natsuga K, Akiyama M, Sato-Matsumura KC, Tsuchiya K, Shimizu H. Natsuga K, et al. Clin Exp Dermatol. 2005 Nov;30(6):636-9. doi: 10.1111/j.1365-2230.2005.01822.x. Clin Exp Dermatol. 2005. PMID: 16197375

10

Elephantiasis nostras verrucosa successfully treated by surgical debridement.

Iwao F, Sato-Matsumura KC, Sawamura D, Shimizu H. Iwao F, et al. Dermatol Surg. 2004 Jun;30(6):939-41. doi: 10.1111/j.1524-4725.2004.30267.x. Dermatol Surg. 2004. PMID: 15171776

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