Publications

Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation.
J Orthop Sci 2017 Sep 23;22(5):967-971. Epub 2016 Feb 23.
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan. Electronic address:


Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Clin Biochem 2017 Aug 24;50(12):670-677. Epub 2017 Feb 24.
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan; Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science Hokkaido University, Sapporo 001-0021, Japan. Electronic address:









Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.
Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:




Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
J Med Genet 2016 Aug 7;53(8):568-74. Epub 2016 Apr 7.
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan Department of Orthopaedics, National Rehabilitation Center for Disabled Children, Tokyo, Japan.

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
Am J Med Genet A 2016 Aug 5;170(8):1967-73. Epub 2016 Jun 5.
Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.




BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Am J Hum Genet 2016 Jun 26;98(6):1243-1248. Epub 2016 May 26.
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea. Electronic address:










Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.
Hum Genet 2016 Jan 12;135(1):61-8. Epub 2015 Nov 12.
Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.


Prevention of Lethal Murine Hypophosphatasia by Neonatal Ex Vivo Gene Therapy Using Lentivirally Transduced Bone Marrow Cells.
Hum Gene Ther 2015 Dec 19;26(12):801-12. Epub 2015 Nov 19.
1 Division of Gene Therapy, Department of Biochemistry and Molecular Biology, Research Center for Advanced Medical Technology, Nippon Medical School, Tokyo, Japan .






A case of Candida albicans fungus balls in the urinary tract appeared during the course of antifungal treatment for Candida endophthalmitis.
J Infect Chemother 2015 Sep 8;21(9):687-90. Epub 2015 May 8.
Department of Medicine and Biosystemic Science, Faculty of Medicine, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka City, Fukuoka 812-8582, Japan.


Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector.
Sci Rep 2015 Aug 18;5:13104. Epub 2015 Aug 18.
Department of Biochemistry and Molecular Biology; Division of Gene Therapy, Research Center for Advanced Medical Technology; Nippon Medical School, Tokyo, 113-8603, Japan.





A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.
J Clin Endocrinol Metab 2015 Apr 9;100(4):1221-4. Epub 2015 Feb 9.
Developmental Endocrinology Research Group (A.K.L.-H., S.F.A.), School of Medicine, University of Glasgow, Royal Hospital for Sick Children (RHSC), Yorkhill, Glasgow, G3 8SJ United Kingdom; Department of Clinical Genetics (E.K.), Southern General Hospital, Glasgow, G51 4TF United Kingdom; Laboratory of Bone and Joint Diseases (A.I., Z.W., S.I.), Center for Integrative Medical Sciences, RIKEN, Tokyo 108-8639, Japan; Department of Human Genetics (N.M.), Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; and Department of Biochemistry (J.M.), Southern General Hospital, 1345 Govan Rd, Glasgow, G51 4TF United Kingdom.


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