論文 - 知念　安紹

Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.

Ganaha A, Kaname T, Shinjou A, Chinen Y, Yanagi K, Higa T, Kondo S, Suzuki M

American journal of medical genetics. Part A ( American Journal of Medical Genetics, Part A )  173 ( 10 ) 2826 - 2830   2017年10月 [ 査読有り ]

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Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study.

Chinen Y, Nakamura S, Tamashiro K, Sakamoto O, Tashiro K, Inokuchi T, Nakanishi K

Molecular genetics and metabolism reports ( Molecular Genetics and Metabolism Reports )  11   2 - 5   2017年06月 [ 査読有り ]

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A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

知念　安紹

Human Genome Variation   4 ( 17002 )   2017年04月

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A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.

Chinen Y, Nakamura S, Yoshida T, Maruyama H, Nakamura K

Human genome variation ( Human Genome Variation )  4   17002   2017年 [ 査読有り ]

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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Hayashi S, Uehara DT, Tanimoto K, Mizuno S, Chinen Y, Fukumura S, Takanashi JI, Osaka H, Okamoto N, Inazawa J

PloS one ( PLoS ONE )  12 ( 8 ) e0181791   2017年 [ 査読有り ]

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Activity of daily living for Morquio A syndrome.

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

Molecular genetics and metabolism ( Molecular Genetics and Metabolism )  118 ( 2 ) 111 - 22   2016年06月 [ 査読有り ]

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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.

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

Journal of human genetics ( Journal of Human Genetics )  61 ( 4 ) 335 - 43   2016年04月 [ 査読有り ]

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Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.

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

American journal of medical genetics. Part A ( American Journal of Medical Genetics, Part A )  170A ( 4 ) 908 - 17   2016年04月 [ 査読有り ]

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Hematopoietic stem cell transplantation for Morquio A syndrome.

Yabe H, Tanaka A, Chinen Y, Kato S, Sawamoto K, Yasuda E, Shintaku H, Suzuki Y, Orii T, Tomatsu S

Molecular genetics and metabolism ( Molecular Genetics and Metabolism )  117 ( 2 ) 84 - 94   2016年02月 [ 査読有り ]

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Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations.

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

Journal of dermatological science   81 ( 2 ) 140 - 2   2016年02月 [ 査読有り ]

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Hematopoietic stem cell transplantation for Morquio syndrome type A

Tomatsu, S; Yabe, H; Tanaka, A; Chinen, Y; Kato, S; Suzuki, Y; Orii, T

MOLECULAR GENETICS AND METABOLISM   117 ( 2 ) S114 - S114   2016年02月 [ 査読有り ]

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Progressive hip joint subluxation in Saul-Wilson syndrome.

Chinen Y, Kaneshi T, Kamiya T, Hata K, Nishimura G, Kaname T

American journal of medical genetics. Part A ( American Journal of Medical Genetics, Part A )  167A ( 11 ) 2834 - 8   2015年11月 [ 査読有り ]

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Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.

Sakamoto O, Arai-Ichinoi N, Mitsubuchi H, Chinen Y, Haruna H, Maruyama H, Sugawara H, Kure S

The Tohoku journal of experimental medicine ( 東北ジャーナル刊行会 )  236 ( 2 ) 103 - 6   2015年06月 [ 査読有り ]

掲載種別: 研究論文（学術雑誌）

　概要を見る

Isovaleric acidemia (IVA) is an autosomal recessive inborn error affecting leucine metabolism. It is caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD), a mitochondrial matrix enzyme that catalyzes the oxidation of isovaleryl-CoA to 3-methylcrotonyl-CoA. IVD is a FAD-containing enzyme, consisting of four identical subunits. Clinical features of IVA include poor feeding, vomiting, lethargy, developmental delay, metabolic acidosis, and a characteristic "sweaty foot" odor. IVA is one of the target disorders for newborn screening by tandem mass spectrometry (MS/MS). The human <i>IVD</i> gene is located on chromosome 15q. To date, over 50 disease-causing mutations have been reported worldwide. In this study, we searched for <i>IVD</i> mutations in five Japanese patients with IVA (neonatal type, two patients; chronic intermittent type, two patients; and mild biochemical type, one patient). The diagnosis of IVA was confirmed by urinary organic acid analysis using gas chromatography and mass spectrometry. All coding exons and the flanking introns in the <i>IVD </i>gene were amplified by PCR and were directly sequenced. We thus identified six hitherto unknown mutations (p.G94D, p.E116K, p.M167T, p.L243P, p.L246P, and c.696+1G>T) and four previously reported (p.R53P, p.R395C, p.Y403C, and p.E411K) pathogenic mutations. All patients were compound heterozygotes, and each mutation was identified in a single patient. Pathogenicity of newly identified mutations was validated using computational programs. Among them, the p.M167T is believed to influence FAD binding, as the position 167 is present in one of the FAD-binding sites. Our results have illustrated the heterogeneous mutation spectrum and clinical presentation of IVA in the Japanese patients.

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Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.

Hyakuna N, Muramatsu H, Higa T, Chinen Y, Wang X, Kojima S

Pediatric blood & cancer ( Pediatric Blood and Cancer )  62 ( 3 ) 542 - 4   2015年03月 [ 査読有り ]

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Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

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

Drug design, development and therapy ( Drug Design, Development and Therapy )  9   1937 - 53   2015年 [ 査読有り ]

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Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the α-N-acetylglucosaminidase gene from the Okinawa islands in Japan

Chinen Y, Tohma T, Izumikawa Y, Uehara H, Ohta T.

J Hum Genet ( その他の出版社 )  ( 50 ) 357 - 359   2005年03月

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Novel alternative splicing of human faciogenital dysplasia 1 gene.

Yanagi. K, Kaname. T, Chinen. Y, Naritomi. K.

Congenit Anom (Kyoto) ( その他の出版社 )  44 ( 3 ) 137 - 141   2004年03月

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A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome.

Matsuura. T, Tamura. T, Chinen. Y, Ohta. T.

Clin Genet ( その他の出版社 )  62 ( 3 ) 255 - 256   2002年03月

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Haploinsufficiency of NSD1 causes Sotos syndrome.

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.

Nat Genet ( その他の出版社 )  30 ( 4 ) 365 - 366   2002年03月

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limb-oto-cardiac syndrome

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日本臨床、領域別症候群シリーズ ( その他の出版社 )  34 ( 95 )   2001年03月

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