Y. Toyomaki

发表

Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefèvre syndrome: implications for understanding the genotype/phenotype relationship.

D. Sawamura, H. Nakano, Y. Mitsuhashi, 2009, Journal of dermatological science.

A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome.

N. Umegaki, D. Sawamura, H. Nakano, 2008, Journal of dermatological science.

Calcineurin/NFAT-dependent regulation of 230-kDa bullous pemphigoid antigen (BPAG1) gene expression in normal human epidermal keratinocytes.

J. Uitto, K. Tamai, D. Sawamura, 2008, Journal of dermatological science.

A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens

Y. Matsuzaki, H. Nakano, Y. Mitsuhashi, 2007, The British journal of dermatology.

Reduction of Skin Barrier Function by Proteolytic Activity of a Recombinant House Dust Mite Major Allergen Der f 1

A. Kawada, K. Hanada, H. Nakano, 2006 .

Buschke–Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation

D. Sawamura, H. Nakano, D. Rokunohe, 2012, The British journal of dermatology.

BUSCHKE-OLLENDORFF SYNDROME PATHOGENETIC MUTATION IN AN INTRON/EXON BOUNDARY OF THE LEMD3 GENE

D. Sawamura, Y. Toyomaki, 2012 .

Novel SLC39A4 mutations in acrodermatitis enteropathica.

K. Nomura, K. Hanada, H. Nakano, 2003, The Journal of investigative dermatology.

Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population.

A. Kawada, K. Hanada, H. Nakano, 2006, The Journal of investigative dermatology.

Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.

H. Sueki, D. Sawamura, H. Nakano, 2015, Journal of dermatological science.

Identification of Skn-1n, a splice variant induced by high calcium concentration and specifically expressed in normal human keratinocytes.

J. Uitto, K. Tamai, T. Yamazaki, 2008, The Journal of investigative dermatology.

Novel COL7A1 mutations in a Japanese family with transient bullous dermolysis of the newborn associated with pseudosyndactyly

H. Nakano, Y. Mitsuhashi, H. Jin, 2007, The British journal of dermatology.

Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1)

K. Tamai, H. Nakano, Y. Tomita, 2006, The Journal of dermatology.

Buschke–Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation

D. Rokunohe, E. Akasaka, N. Takiyoshi, 2012, The British journal of dermatology.