山形 崇倫 やまがた たかのり 先生

来歴等

略歴

1986年　岐阜大学医学部卒業
1986年　自治医科大学附属病院研修医（小児科）　　
1996年　自治医科大学小児科学　講師　
1997年　米国ベイラー医科大学（テキサス州ヒューストン） 分子遺伝学　リサーチフェロー（2000年3月まで）
2002年　自治医科大学遺伝カウンセリング室室長補佐併任
2010年　自治医科大学小児科学発達医学部門　教授
2013年　自治医科大学小児科学主任教授
2014年　自治医科大学とちぎ子ども医療センター　センター長併任
2023年　独立行政法人 栃木県立リハビリテーションセンター 理事兼医療局長

論文

（2020年～2018年）
1. Kawahara Y, Morimoto A, Oh Y, Furukawa R, Wakabayashi K, Monden Y, Osaka H, Yamagata T. Serum and cerebrospinal fluid cytokines in children with acute encephalopathy. Brain Dev 2020;42:185-191.
2. Hanley M, Riby DM, Derges MJ, Douligeri A, Philyaw Z, Ikeda T, Monden Y, Shimoizumi H, Yamagata T, Hirai M. Does culture shape face perception in autism? Cross-cultural evidence of the own-race advantage from the UK and Japan. Dev Sci 2020:e12942.
3. Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. Am J Hum Genet 2020;106:549-558.
4. Batjargal K, Tajima T, Jimbo EF, Yamagata T. Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome. J Endocrinol Invest 2020.
5. Tulyeu J, Kumagai H, Jimbo E, Watanabe S, Yokoyama K, Cui L, Osaka H, Mieno M, Yamagata T. Probiotics Prevents Sensitization to Oral Antigen and Subsequent Increases in Intestinal Tight Junction Permeability in Juvenile-Young Adult Rats. Microorganisms 2019;7.
6. Shibata A, Kasai M, Hoshino A, Miyagawa T, Matsumoto H, Yamanaka G, Kikuchi K, Kuki I, Kumakura A, Hara S, Shiihara T, Yamazaki S, Ohta M, Yamagata T, Takanashi JI, Kubota M, Oka A, Mizuguchi M. Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy. Brain Dev 2019;41:862-869.
7. Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet 2019;64:1173-1186.
8. Negishi Y, Ieda D, Hori I, Nozaki Y, Yamagata T, Komaki H, Tohyama J, Nagasaki K, Tada H, Saitoh S. Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy. Orphanet J Rare Dis 2019;14:277.
9. Miyauchi A, Kouga T, Jimbo EF, Matsuhashi T, Abe T, Yamagata T, Osaka H. Apomorphine rescues reactive oxygen species-induced apoptosis of fibroblasts with mitochondrial disease. Mitochondrion 2019;49:111-120.
10. Kojima K, Nakajima T, Taga N, Miyauchi A, Kato M, Matsumoto A, Ikeda T, Nakamura K, Kubota T, Mizukami H, Ono S, Onuki Y, Sato T, Osaka H, Muramatsu SI, Yamagata T. Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency. Brain 2019;142:322-333.
11. Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N. Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy. Clin Genet 2018;93:266-274.
12. Nakamura S, Muramatsu SI, Takino N, Ito M, Jimbo EF, Shimazaki K, Onaka T, Ohtsuki S, Terasaki T, Yamagata T, Osaka H. Gene therapy for Glut1-deficient mouse using an adeno-associated virus vector with the human intrinsic GLUT1 promoter. J Gene Med 2018;20:e3013.
13. Kojima K, Shirai K, Kobayashi M, Miyauchi A, Saitsu H, Matsumoto N, Osaka H, Yamagata T. A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. Brain Dev 2018;40:69-73.
14. Ikeda T, Hirai M, Sakurada T, Monden Y, Tokuda T, Nagashima M, Shimoizumi H, Dan I, Yamagata T. Atypical neural modulation in the right prefrontal cortex during an inhibitory task with eye gaze in autism spectrum disorder as revealed by functional near-infrared spectroscopy. Neurophotonics 2018;5:035008.