• 1087 引用
  • 17 h指数
1985 …2020

年単位の研究成果

Pureに変更を加えた場合、すぐここに表示されます。

研究成果

フィルター
Article
2020
公開

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

Kishita, Y., Shimura, M., Kohda, M., Akita, M., Imai-Okazaki, A., Yatsuka, Y., Nakajima, Y., Ito, T., Ohtake, A., Murayama, K. & Okazaki, Y., 2020, (Accepted/In press) : : Molecular genetics & genomic medicine.

研究成果: Article

公開

Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer

Yokoi, K., Nakajima, Y., Matsuoka, H., Shinkai, Y., Ishihara, T., Maeda, Y., Kato, T., Katsuno, H., Masumori, K., Kawada, K., Yoshikawa, T., Ito, T. & Kurahashi, H., 2020, (Accepted/In press) : : Cancer science.

研究成果: Article

公開
2019

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Wada, Y., Kikuchi, A., Arai-Ichinoi, N., Sakamoto, O., Takezawa, Y., Iwasawa, S., Niihori, T., Nyuzuki, H., Nakajima, Y., Ogawa, E., Ishige, M., Hirai, H., Sasai, H., Fujiki, R., Shirota, M., Funayama, R., Yamamoto, M., Ito, T., Ohara, O., Nakayama, K. および4人, Aoki, Y., Koshiba, S., Fukao, T. & Kure, S., 01-06-2019, : : Genetics in Medicine. 21, 6, p. 1286-1294 9 p.

研究成果: Article

10 引用 (Scopus)

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

Yokoi, K., Nakajima, Y., Shinkai, Y., Sano, Y., Imamura, M., Akiyama, T., Yoshikawa, T., Ito, T. & Kurahashi, H., 12-2019, : : Molecular Genetics and Metabolism Reports. 21, 100515.

研究成果: Article

公開
2018
2017
1 引用 (Scopus)

Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening

Nakano, M., Uemura, O., Honda, M., Ito, T., Nakajima, Y. & Saitoh, S., 01-08-2017, : : Pediatric Research. 82, 2, p. 237-243 7 p.

研究成果: Article

3 引用 (Scopus)

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity

Nakajima, Y., Meijer, J., Dobritzsch, D., Ito, T., Zhang, C., Wang, X., Watanabe, Y., Tashiro, K., Meinsma, R., Roelofsen, J., Zoetekouw, L. & van Kuilenburg, A. B. P., 12-2017, : : Molecular Genetics and Metabolism. 122, 4, p. 216-222 7 p.

研究成果: Article

4 引用 (Scopus)

Liver transplantation from female donors provokes higher complement component C5a activity

Hussein, M. H., Hashimoto, T., Suzuki, T., Daoud, G. A. H., Kato, T., Hibi, M., Tomishige, H., Hara, F., Ito, T., Kato, I., Kazuhiko, K., Sobajima, H., Tamura, M. & Togari, H., 2017, : : Annals of Transplantation. 22, p. 694-700 7 p.

研究成果: Article

1 引用 (Scopus)
2016

Altered pre-mrna splicing caused by a novel intronic mutation c.1443+5G>A in the dihydropyrimidinase (DPYS) gene

Nakajima, Y., Meijer, J., Zhang, C., Wang, X., Kondo, T., Ito, T., Dobritzsch, D. & Van Kuilenburg, A. B. P., 12-01-2016, : : International journal of molecular sciences. 17, 1, 86.

研究成果: Article

4 引用 (Scopus)
3 引用 (Scopus)
6 引用 (Scopus)
2015
3 引用 (Scopus)
6 引用 (Scopus)
2014

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Nakajima, Y., Meijer, J., Dobritzsch, D., Ito, T., Meinsma, R., Abeling, N. G. G. M., Roelofsen, J., Zoetekouw, L., Watanabe, Y., Tashiro, K., Lee, T., Takeshima, Y., Mitsubuchi, H., Yoneyama, A., Ohta, K., Eto, K., Saito, K., Kuhara, T. & van Kuilenburg, A. B. P., 01-09-2014, : : Journal of Inherited Metabolic Disease. 37, 5, p. 801-812 12 p.

研究成果: Article

13 引用 (Scopus)

Homoplasmy of a mitochondrial 3697G >A mutation causes Leigh syndrome

Negishi, Y., Hattori, A., Takeshita, E., Sakai, C., Ando, N., Ito, T., Goto, Y. I. & Saitoh, S., 07-2014, : : Journal of Human Genetics. 59, 7, p. 405-407 3 p.

研究成果: Article

7 引用 (Scopus)
2013

Children undergoing liver transplantation for treatment of inherited metabolic diseases are prone to higher oxidative stress, complement activity and transforming growth factor-β1

Hussein, M. H., Hashimoto, T., Suzuki, T., Daoud, G. A. H., Goto, T., Nakajima, Y., Kato, T., Hibi, M., Tomishige, H., Hara, F., Kato, S., Kakita, H., Kamei, M., Ito, T., Kato, I., Sugioka, A. & Togari, H., 2013, : : Annals of Transplantation. 18, 1, p. 63-68 6 p.

研究成果: Article

12 引用 (Scopus)

Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient

Satoh, D., Maeda, T., Ito, T., Nakajima, Y., Ohte, M., Ukai, A., Nakamura, K., Enosawa, S., Toyota, M., Miyagawa, Y., Okita, H., Kiyokawa, N., Akutsu, H., Umezawa, A. & Matsunaga, T., 12-2013, : : Genes to Cells. 18, 12, p. 1053-1069 17 p.

研究成果: Article

8 引用 (Scopus)

Fatigue and quality of life in citrin deficiency during adaptation and compensation stage

Okano, Y., Kobayashi, K., Ihara, K., Ito, T., Yoshino, M., Watanabe, Y., Kaji, S., Ohura, T., Nagao, M., Noguchi, A., Mushiake, S., Hohashi, N. & Hashimoto-Tamaoki, T., 05-2013, : : Molecular Genetics and Metabolism. 109, 1, p. 9-13 5 p.

研究成果: Article

12 引用 (Scopus)

Identification of a novel synonymous mutation in the human β-ureidopropionase gene UPB1 affecting pre-mRNA splicing

Meijer, J., Nakajima, Y., Zhang, C., Meinsma, R., Ito, T. & Van Kuilenburg, A. B. P., 01-01-2013, : : Nucleosides, Nucleotides and Nucleic Acids. 32, 12, p. 639-645 7 p.

研究成果: Article

3 引用 (Scopus)
2012

Endothelin receptor antagonist attenuates oxidative stress in a neonatal sepsis piglet model

Goto, T., Hussein, M. H., Kato, S., Daoud, G. A. H., Kato, T., Sugiura, T., Kakita, H., Nobata, M., Kamei, M., Mizuno, H., Imai, M., Ito, T., Kato, I., Suzuki, S., Okada, N., Togari, H. & Okada, H., 12-2012, : : Pediatric Research. 72, 6, p. 600-605 6 p.

研究成果: Article

6 引用 (Scopus)

Hypothermia attenuates the severity of oxidative stress development in asphyxiated newborns

Kakita, H., Hussein, M. H., Kato, S., Yamada, Y., Nagaya, Y., Asai, H., Goto, T., Ito, K., Sugiura, T., Daoud, G. A. H., Ito, T., Kato, I. & Togari, H., 01-10-2012, : : Journal of Critical Care. 27, 5, p. 469-473 5 p.

研究成果: Article

6 引用 (Scopus)

ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients

Van Kuilenburg, A. B. P., Dobritzsch, D., Meijer, J., Krumpel, M., Selim, L. A., Rashed, M. S., Assmann, B., Meinsma, R., Lohkamp, B., Ito, T., Abeling, N. G. G. M., Saito, K., Eto, K., Smitka, M., Engvall, M., Zhang, C., Xu, W., Zoetekouw, L. & Hennekam, R. C. M., 07-2012, : : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1822, 7, p. 1096-1108 13 p.

研究成果: Article

16 引用 (Scopus)
2011

CD36 deficiency predisposing young children to fasting hypoglycemia

Nagasaka, H., Yorifuji, T., Takatani, T., Okano, Y., Tsukahara, H., Yanai, H., Hirano, K. I., Hui, S. P., Hirayama, S., Ito, T., Chiba, H. & Miida, T., 06-2011, : : Metabolism: Clinical and Experimental. 60, 6, p. 881-887 7 p.

研究成果: Article

3 引用 (Scopus)

Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening

Nagasaka, H., Tsukahara, H., Takatani, T., Sanayama, Y., Takayanagi, M., Ohura, T., Sakamoto, O., Ito, T., Wada, M., Yoshino, M., Ohtake, A., Yorifuji, T., Hirayama, S., Miida, T., Fujimoto, H., Mochizuki, H., Hattori, T. & Okano, Y., 11-2011, : : Journal of Bone and Mineral Metabolism. 29, 6, p. 737-743 7 p.

研究成果: Article

24 引用 (Scopus)

Edaravone, a hydroxyl radical Scavenger, ameliorates the severity of pulmonary hypertension in a porcine model of neonatal sepsis

Yamaguchi, S., Hussein, M. H., Daoud, G. A. E. H., Goto, T., Kato, S., Kakita, H., Mizuno, H., Ito, T., Fukuda, S., Kato, I., Suzuki, S., Hashimoto, L. & Togari, H., 2011, : : Tohoku Journal of Experimental Medicine. 223, 4, p. 235-241 7 p.

研究成果: Article

6 引用 (Scopus)

Endogenous erythropoietin from astrocyte protects the oligodendrocyte precursor cell against hypoxic and reoxygenation injury

Kato, S., Aoyama, M., Kakita, H., Hida, H., Kato, I., Ito, T., Goto, T., Hussein, M. H., Sawamoto, K., Togari, H. & Asai, K., 10-2011, : : Journal of Neuroscience Research. 89, 10, p. 1566-1574 9 p.

研究成果: Article

41 引用 (Scopus)

Evaluation of valproate effects on acylcarnitine in epileptic children by LC-MS/MS

Nakajima, Y., Ito, T., Maeda, Y., Ichiki, S., Kobayashi, S., Ando, N., Hussein, M. H., Kurono, Y., Sugiyama, N. & Togari, H., 01-11-2011, : : Brain and Development. 33, 10, p. 816-823 8 p.

研究成果: Article

17 引用 (Scopus)

Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria

Sanayama, Y., Nagasaka, H., Takayanagi, M., Ohura, T., Sakamoto, O., Ito, T., Ishige-Wada, M., Usui, H., Yoshino, M., Ohtake, A., Yorifuji, T., Tsukahara, H., Hirayama, S., Miida, T., Fukui, M. & Okano, Y., 07-2011, : : Molecular Genetics and Metabolism. 103, 3, p. 220-225 6 p.

研究成果: Article

47 引用 (Scopus)

Oxidative stress after living related liver transplantation subsides with time in pediatric patients

Hussein, M. H., Hashimoto, T., Daoud, G. A. H., Kakita, H., Kato, S., Goto, T., Hibi, M., Kato, T., Okumura, N., Tomishige, H., Hara, F., Ito, T., Fukuda, S., Kato, I., Suzuki, T., Suzuki, S. & Togari, H., 01-2011, : : Pediatric Surgery International. 27, 1, p. 17-22 6 p.

研究成果: Article

9 引用 (Scopus)

Pediatric patients receiving ABO-incompatible living related liver transplantation exhibit higher serum transforming growth factor-β1, interferon-γ and interleukin-2 levels

Hussein, M. H., Hashimoto, T., Abdel-Hamid Daoud, G., Kato, T., Hibi, M., Tomishige, H., Hara, F., Suzuki, T., Nakajima, Y., Goto, T., Ito, T., Kato, I., Sugioka, A. & Togari, H., 03-2011, : : Pediatric Surgery International. 27, 3, p. 263-268 6 p.

研究成果: Article

6 引用 (Scopus)
2010

Detection of pivaloylcarnitine in pediatric patients with hypocarnitinemia after long-term administration of pivalate-containing antibiotics.

Nakajima, Y., Ito, T., Maeda, Y., Ichiki, S., Sugiyama, N., Mizuno, M., Makino, Y., Sugiura, T., Kurono, Y. & Togari, H., 2010, : : The Tohoku Journal of Experimental Medicine. 221, 4, p. 309-313 5 p.

研究成果: Article

14 引用 (Scopus)

Effectiveness of vigabatrin in West syndrome associated with tuberous sclerosis

Ando, N., Fujimoto, S., Ishikawa, T., Kobayashi, S., Hattori, A., Ito, T. & Togari, H., 01-12-2010, : : No To Hattatsu. 42, 6, p. 444-448 5 p.

研究成果: Article

1 引用 (Scopus)

Effect of polymyxin B-immobilized fiber hemoperfusion on respiratory impairment, hepatocellular dysfunction, and leucopenia in a neonatal sepsis model

Hussein, M. H., Daoud, G. A., Kakita, H., Kato, S., Goto, T., Kamei, M., Goto, K., Ozaki, Y., Ito, T., Fukuda, S., Kato, I., Suzuki, S., Hashimoto, T. & Togari, H., 02-2010, : : Pediatric Surgery International. 26, 2, p. 187-193 7 p.

研究成果: Article

5 引用 (Scopus)

Endothelin receptor antagonist attenuates inflammatory response and prolongs the survival time in a neonatal sepsis model

Goto, T., Hussein, M. H., Kato, S., Daoud, G. A. H., Kato, T., Kakita, H., Mizuno, H., Imai, M., Ito, T., Kato, I., Suzuki, S., Okada, N., Togari, H. & Okada, H., 01-12-2010, : : Intensive Care Medicine. 36, 12, p. 2132-2139 8 p.

研究成果: Article

9 引用 (Scopus)

High cerebrospinal fluid antioxidants and interleukin 8 are protective of hypoxic brain damage in newborns

Hussein, M. H., Daoud, G. A., Kakita, H., Kato, S., Goto, T., Kamei, M., Goto, K., Nobata, M., Ozaki, Y., Ito, T., Fukuda, S., Kato, I., Suzuki, S., Sobajima, H., Hara, F., Hashimoto, T. & Togari, H., 2010, : : Free Radical Research. 44, 4, p. 422-429 8 p.

研究成果: Article

20 引用 (Scopus)

Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report

Okanishi, T., Ito, T., Nakajima, Y., Ito, K., Kakita, H., Yamada, Y., Kobayashi, S., Ando, N. & Togari, H., 01-08-2010, : : Brain and Development. 32, 7, p. 567-570 4 p.

研究成果: Article

3 引用 (Scopus)

Two patients with acute rotavirus encephalitis associated with cerebellar signs and symptoms

Kobayashi, S., Negishi, Y., Ando, N., Ito, T., Nakano, M., Togari, H., Wakuda, M. & Taniguchi, K., 10-2010, : : European Journal of Pediatrics. 169, 10, p. 1287-1291 5 p.

研究成果: Article

27 引用 (Scopus)
2009

A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy

Yokoi, K., Ito, T., Maeda, Y., Nakajima, Y., Kurono, Y., Sugiyama, N. & Togari, H., 01-11-2009, : : Brain and Development. 31, 10, p. 775-778 4 p.

研究成果: Article

7 引用 (Scopus)
7 引用 (Scopus)

Diclofenac enhances proinflammatory cytokine-induced nitric oxide production through NF-κB signaling in cultured astrocytes

Kakita, H., Aoyama, M., Hussein, M. H., Kato, S., Suzuki, S., Ito, T., Togari, H. & Asai, K., 01-07-2009, : : Toxicology and Applied Pharmacology. 238, 1, p. 56-63 8 p.

研究成果: Article

10 引用 (Scopus)

Edaravone, a novel free radical scavenger, reduces high-mobility group bOX 1 and prolongs survival in a neonatal sepsis model

Kato, S., Hussein, M. H., Kakita, H., Goto, T., Daoud, G. A., Kato, T., Sugiura, T., Nobata, M., Nakajima, Y., Endo, T., Mizuno, K., Ito, T., Kato, I., Suzuki, S. & Togari, H., 01-12-2009, : : Shock. 32, 6, p. 586-592 7 p.

研究成果: Article

26 引用 (Scopus)

HapMap scanning of novel human minor histocompatibility antigens

Kamei, M., Nannya, Y., Torikai, H., Kawase, T., Taura, K., Inamoto, Y., Takahashi, T., Yazaki, M., Morishima, S., Tsujimura, K., Miyamura, K., Ito, T., Togari, H., Riddell, S. R., Kodera, Y., Morishima, Y., Takahashi, T., Kuzushima, K., Ogawa, S. & Akatsuka, Y., 2009, : : Blood. 113, 21, p. 5041-5048 8 p.

研究成果: Article

40 引用 (Scopus)

High postnatal oxidative stress in neonatal cystic periventricular leukomalacia

Kakita, H., Hussein, M. H., Yamada, Y., Henmi, H., Kato, S., Kobayashi, S., Ito, T., Kato, I., Fukuda, S., Suzuki, S. & Togari, H., 01-10-2009, : : Brain and Development. 31, 9, p. 641-648 8 p.

研究成果: Article

16 引用 (Scopus)

Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene

Mizuno, H., Kanda, K., Sugiyama, Y., Imamine, H., Ito, T., Kato, I., Togari, H., Kamoda, T. & Onigata, K., 01-06-2009, : : Hormone Research. 71, 6, p. 318-323 6 p.

研究成果: Article

14 引用 (Scopus)
2008

A drop in gas temperature in the external part of the endotracheal tube is problematic during neonatal respiratory support

Yamada, Y., Kyuno, T., Suzuki, S., Ito, T., Kato, I. & Togari, H., 01-07-2008, : : Pediatric Pulmonology. 43, 7, p. 666-673 8 p.

研究成果: Article

11 引用 (Scopus)
25 引用 (Scopus)