代謝、神経・筋、内分泌、遺伝

発表論文

Chinen Y, Nakamura S, Tamashiro K, Sakamoto O, Tashiro K, Inokuchi T, Nakanishi K. 2017 Isovaleric acidemia: Therapeutic response to supplementation with glycine, L-carnitine, or both in combination and a 10-year follow-up case study. Molecular Genetics and Metabolism Reports 11:2–5.

Chinen Y, Nakamura N, Yoshida T, Maruyama H, Nakamura K. 2017 A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels. Human Genome Variation 16:17002.

Hayashi S, Uehara DT, Tanimoto K, Mizuno S, Chinen Y, Fukumura S, Takanashi JI, Osaka H, Okamoto N, Inazawa J. 2017 Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PLoS One. 12(8): e0181791.

Ganaha A, Kaname T, Shinjou A, Chinen Y, Yanagi K, Higa T, Kondo S, Suzuki M. 2017 Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease. Am J Med Genet A. 173: 2826-2830.

Yasuda E, Suzuki Y, Shimada T, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Xie L, Miller F, Rahman T, Kecskemethy HH, Nagao K, Morlet T, Shaffer TH, Chinen Y, Yabe H, Tanaka A, Shintaku H, Orii KE, Orii KO, Mason RW, Montaño AM, Fukao T, Orii T, Tomatsu S. 2016 Activity of daily living for Morquio A syndrome. Mol Genet Metab. 118:111-122

Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J. 2016 SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements. J Hum Genet. 61:335-343.  

Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T. 2016 Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome. Am J Med Genet A. 170:908-17.

Yabe H*, Tanaka A*, Chinen Y*, Kato S, Sawamoto K, Yasuda E, Shintaku H, Suzuki Y, Orii T, Tomatsu S. 2016 Hematopoietic stem cell transplantation for Morquio A syndrome. Mol Genet Metab. 117:84-94

Okamura K, Araki Y, Abe Y, Shigyou A, Fujiyama T, Baba A, Kanekura T, Chinen Y, Kono M, Niizeki H, Tsubota A, Konno T, Hozumi Y, Suzuki T. 2016 Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. J Dermatol Sci. 81:140-2.

Chinen Y, Kaneshi T, Kamiya T, Hata K, Nishimura G, Kaname T. 2015 Progressive Hip Joint Subluxation in Saul-Wilson Syndrome. (Chinen Y, 2015, Am J Med Genet. Aug 4. doi: 10.1002/ajmg.a.37278.)

Sakamoto O, Arai-Ichinoi N, Mitsubuchi H, Chinen Y, Haruna H, Maruyama H, Sugawara H, Kure S. 2015 Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia. Tohoku J Exp Med. 236:103-106.

Nakamura S, Saito Y, Ishiyama A, Sugai K, Iso T, Inagaki M, Sasaki M. 2015 Correlation of augmented startle reflex with brainstem electrophysiological responses in Tay-Sachs disease. Brain Dev. 37(1):101-6.

Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Montaño AM, Giugliani R, Kubaski F, Yasuda E, Rodríguez-López A, Espejo-Mojica AJ, Sánchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T. 2015 Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome. Drug Des Devel Ther 9:1937-1953.

Chinen Y, Higa T, Tomatsu S, Suzuki Y, Orii T, Hyakuna N. 2014 Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA. MGM reports 1:31-41.

Shimada T, Kelly J, LaMarr WA, van Vlies N, Yasuda E, Mason RW, Mackenzie W, Kubaski F, Giugliani R, Chinen Y, Yamaguchi S, Suzuki Y, Orii KE, Fukao T, Orii T, Tomatsu S. 2014 Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses. Mol Genet Metab. 113:92-99.

Hyakuna N, Muramatsu H, Higa T, Chinen Y, Wang X, Kojima S. 2014 Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder. Pediatr Blood Cancer. 62:542-544.

Tomatsu S, Yasuda E, Patel P, Ruhnke K, Shimada T, Mackenzie WG, Mason R, Thacker MM, Theroux M, Montaño AM, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Sly WS, Rowan D, Suzuki Y, Orii T. 2014 Morquio A syndrome: diagnosis and current and future therapies. Pediatr Endocrinol Rev 12:141-151.

Tomatsu S, Yasuda E, Patel P, Ruhnke K, Shimada T, Mackenzie WG, Mason R, Thacker MM, Theroux M, Montaño AM, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Sly WS, Rowan D, Suzuki Y, Orii T. 2014 Orphan Drug Therapy in the treatment of Lysosomal Storage Disorders. Pediatr Endocrinol Rev 11: 1-11.

Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J. 2012 Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet. 131:99-110.

Tomatsu S, Mackenzie WG, Theroux MC, Mason RW, Thacker MM, Shaffer TH, Montaño AM, Rowan D, Sly W, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Yasuda E, Ruhnke K, Suzuki Y, Orii T. 2012 Current and emerging treatments and surgical interventions for Morquio A syndrome: a review. Res Rep Endocr Disord 2012(2):65-77.

Tomatsu S, Montaño AM, Oikawa H, Smith M, Barrera L, Chinen Y, Thacker MM, Mackenzie WG, Suzuki Y, Orii T. 2011 Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol 12:931-45.
Takagi M, Hori N, Chinen Y, Kurosawa K, Tanaka Y, Oku K, Sakata H, Fukuzawa R, Nishimura G, Spranger J, Hasegawa T. 2011 Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant. Am J Med Genet A.155:2269-2273.

Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J. 2011 Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet. 56:110–124.

Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. 2007 Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet.81:835-41.

Chinen Y, Kaname T, Yanagi K, Saito N, Naritomi K, Ohta T. 2006 Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). Am J Med Genet A.140:1655-7.

Chinen Y*, Tohma T, Izumikawa Y, Uehara H, Ohta T. 2005 Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. J Hum Genet. 50:357-9.

Miyake N, Visser R, Kinoshita A, Yoshiura K, Niikawa N, Kondoh T, Matsumoto N, Harada N, Okamoto N, Sonoda T, Naritomi K, Kaname T, Chinen Y, Tonoki H, Kurosawa K. 2005 Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. Am J Med Genet A. 135:103-5.

Yanagi K, Kaname T, Chinen Y, Naritomi K. 2004 Novel alternative splicing of human faciogenital dysplasia 1 gene. Congenit Anom (Kyoto). 44:137-41.
Matsuura T, Tamura T, Chinen Y, Ohta T. 2002 A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. Clin Genet.62:255-6.

Matsuura T, Chinen Y, Arashiro R, Katsuren K, Tamura T, Hyakuna N, Ohta T. 2002 Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. Mol Genet Metab. 76:207-10.

Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. 2002 Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet.30: 365-6.

Kobayashi S, Uemura H, Kohda T, Nagai T, Chinen Y, Naritomi K, Kinoshita EI, Ohashi H, Imaizumi K, Tsukahara M, Sugio Y, Tonoki H, Kishino T, Tanaka T, Yamada M, Tsutsumi O, Niikawa N, Kaneko-Ishino T, Ishino F. 2001 No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. Am J Med Genet. 104:225-31.

Chinen Y, Ohta T, Naritomi K. 1999 Two sisters with Toriello-Carey syndrome. Am J Med Genet.87:262-264.
Chinen Y*, Izumikawa Y, Naritomi K. 1997 Characterization of Marker Chromosomes by FISH Using Microdissected Probes from Old Carnoy-Fixed Cells: Report of Two Cases. Jpn J Hum Genet.42:543-549.

Naritomi K, Chinen Y. 1997 The Cohen syndrome: report of a case. Jpn J Hum Genet. 42:457-9.

Naritomi K, Chinen Y, Tohma T. 1997 Megalocornea-mental retardation syndrome: an additional case report. Jpn J Hum Genet. 42:461-5.

Chinen Y, Tohma T, Naritomi K. 1996 Small Interstitial Deletion of The Long Arm of Chromosome 2 (2q24.3): Further Delineation of 2q Medial Monosomy Syndrome. Jpn J Hum Genet. 41:323-328.

Chinen Y, Naritomi K. 1995 Malpuech Facial Clefting Syndrome in a Japanese Boy with Cardiac Defects. Jpn J Hum Genet.40:335-338.