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:




Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Am J Hum Genet 2017 Feb;100(2):364-370
St John's Institute of Dermatology, King's College London (Guy's Campus), London SE1 9RT, UK; Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee DD1 5EH, UK. Electronic address:



Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Cell 2016 Sep;167(1):187-202.e17
Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey; Department of Paediatrics, National University of Singapore, Singapore 119228, Singapore. Electronic address:

HMGCR antibody-associated myopathy as a paraneoplastic manifestation of esophageal carcinoma.
Neurology 2016 Aug 22;87(8):841-3. Epub 2016 Jul 22.
From the Department of Neurology (K.T., K.H., H.N., S.N., Y.R., K.S., N.A., M.I., M. Katsuno), Department of Dermatology (Y.M., M.A.), Department of Gastroenterological Surgery (Surgery II) (Y.N., M. Koike), and Department of Pathology and Laboratory Medicine/Diagnostic Pathology (Y.S.), Nagoya University Graduate School of Medicine, Japan.



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;

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

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Am J Hum Genet 2014 Sep 21;95(3):308-14. Epub 2014 Aug 21.
St. John's Institute of Dermatology, King's College London, Guy's Campus, London SE1 9RT, UK; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry, and Nursing, University of Dundee, Dundee DD1 5EH, UK. Electronic address:


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