Publications




Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.
Nat Commun 2017 Jan 27;8:14174. Epub 2017 Jan 27.
Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, Whitechapel London E1 2AT, UK.

Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model.
J Invest Dermatol 2016 Dec 3;136(12):2387-2395. Epub 2016 Aug 3.
Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1163, Paris, France; Imagine Institute, Paris, France; Paris Descartes University, Sorbonne Cité, Paris, France; Department of Genetics, Necker Hospital for Sick Children, Paris, France. Electronic address:

Pancreatic metastasis of angiosarcoma (Stewart-Treves syndrome) diagnosed using endoscopic ultrasound-guided fine needle aspiration: A case report.
Medicine (Baltimore) 2016 Aug;95(33):e4316
aDivision of Gastroenterology and Hematology/Oncology, Department of Medicine bDepartment of Dermatology, Asahikawa Medical University, Hokkaido cGastroenterology Medicine Center, Shonan Kamakura General Hospital, Kanagawa dCenter for Clinical and Biomedical Research, Sapporo Higashi Tokushukai Hospital, Sapporo, Japan.

A founder deletion of corneodesmosin gene is prevalent in Japanese patients with peeling skin disease: Identification of 2 new cases.
J Dermatol Sci 2016 May 29;82(2):134-7. Epub 2016 Jan 29.
Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Fukuoka, Japan. Electronic address:




A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis.
J Allergy Clin Immunol 2013 Nov 20;132(5):1111-1120.e4. Epub 2013 Sep 20.
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan; Center for Integrated Medical Research, Keio University School of Medicine, Tokyo, Japan.



Cole Disease Results from Mutations in ENPP1.
Am J Hum Genet 2013 Oct 26;93(4):752-7. Epub 2013 Sep 26.
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 642395, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.

Reduction of E-cadherin by human defensin-5 in esophageal squamous cells.
Biochem Biophys Res Commun 2013 Sep 16;439(1):71-7. Epub 2013 Aug 16.
Division of Gastroenterology and Hepatology/Oncology, Department of Medicine, Asahikawa Medical University, Asahikawa, Hokkaido, Japan.






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