Publications

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
J Invest Dermatol 2017 Nov 31;137(11):2344-2353. Epub 2017 Jul 31.
St. John's Institute of Dermatology, King's College London (Guy's Campus), London, UK; Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK. Electronic address:




Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation.
Proc Natl Acad Sci U S A 2015 Jun 8;112(25):7707-12. Epub 2015 Jun 8.
Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Kita-ku, Sapporo 060-0812, Japan;

Diversity of humoral responses to the centromere proteins among HCV-related chronic liver disease, PBC and AIH patients.
Clin Res Hepatol Gastroenterol 2015 Apr 15;39(2):222-9. Epub 2014 Sep 15.
Department of Gastroenterology and Neurology, Kagawa University School of Medicine, Kagawa, Japan.

Childhood-onset PsA in Down syndrome with psoriasis susceptibility variant CARD14 rs11652075.
Rheumatology (Oxford) 2015 Jan 22;54(1):197-9. Epub 2014 Oct 22.
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Department of Pediatrics, Department of Dermatology, Aichi Medical University, Nagakute and Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.

Autoantibodies to DNA mismatch repair enzymes in polymyositis/dermatomyositis and other autoimmune diseases: a possible marker of favorable prognosis.
Arthritis Rheumatol 2014 Dec;66(12):3457-62
Division of Connective Tissue Disease and Autoimmunity, Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. ymuro@ med.nagoya-u.ac.jp

UVB-irradiated keratinocytes induce melanoma-associated ganglioside GD3 synthase gene in melanocytes via secretion of tumor necrosis factor α and interleukin 6.
Biochem Biophys Res Commun 2014 Mar 15;445(2):504-10. Epub 2014 Feb 15.
Department of Life and Medical Sciences, Chubu University Faculty of Life and Health Sciences, Matsumoto, Kasugai 487-8501, Japan; Department of Biochemistry II, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-0065, Japan.


Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.
Hum Mol Genet 2013 Sep 10;22(17):3524-33. Epub 2013 May 10.
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

Limitations of a single-point evaluation of anti-MDA5 antibody, ferritin, and IL-18 in predicting the prognosis of interstitial lung disease with anti-MDA5 antibody-positive dermatomyositis.
Clin Rheumatol 2013 Mar 19;32(3):395-8. Epub 2012 Dec 19.
Division of Connective Tissue Disease and Autoimmunity, Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

Impetigo Herpetiformis Complicated with Intrauterine Growth Restriction Treated Successfully with Granulocyte and Monocyte Apheresis.
Acta Derm Venereol 2017 03;97(3):410-411
Department of Dermatology, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu , 807-8555, Japan.

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