Kaori Sakai

Humanization of autoantigen

Wataru Nishie, Daisuke Sawamura, Maki Goto et al. · Nature Medicine · 2007 · 312 citations

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

Toshifumi Nomura, Aileen Sandilands, Masashi Akiyama et al. · Journal of Allergy and Clinical Immunology · 2007 · 272 citations · Full text

Life Sciences, Dermatology, Genetics +17

Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and Are Significantly Associated with Atopic Dermatitis in Japan

Toshifumi Nomura, Masashi Akiyama, Aileen Sandilands et al. · Journal of Investigative Dermatology · 2008 · 147 citations · Full text

Medicine, Dermatology, Genetics +13

Targeted Skipping of a Single Exon Harboring a Premature Termination Codon Mutation: Implications and Potential for Gene Correction Therapy for Selective Dystrophic Epidermolysis Bullosa Patients

Maki Goto, Daisuke Sawamura, Wataru Nishie et al. · Journal of Investigative Dermatology · 2006 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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

Masashi Akiyama, Kaori Sakai, Masaya Ogawa et al. · Muscle & Nerve · 2007 · 82 citations

Life Sciences, Genetics, Molecular Genetics +17