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神田将和（コウダマサカズ）

研究テーマ	希少疾患を対象としたゲノム解析による新規原因遺伝子の解明
研究業績（論文）	2021年 1. Sawada, Keisuke; Momose, Shuji; Kawano, Ryutaro; Kohda, Masakazu; Irié, Tarou; Mishima, Kenji; Kaneko, Takahiro; Horie, Norio; Okazaki, Yasushi; Higashi, Morihiro; ,Immunohistochemical staining patterns of p53 predict the mutational status of TP53 in oral epithelial dysplasia,Modern Pathology,,,1-9,2021 2. Akiyama, Nana; Shimura, Masaru; Yamazaki, Taro; Harashima, Hiroko; Fushimi, Takuya; Tsuruoka, Tomoko; Ebihara, Tomohiro; Ichimoto, Keiko; Matsunaga, Ayako; Saito-Tsuruoka, Megumi; ,Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan,Scientific Reports,11,1,1-7,2021 3. Kishita, Yoshihito; Ishikawa, Kaori; Nakada, Kazuto; Hayashi, Jun-Ichi; Fushimi, Takuya; Shimura, Masaru; Kohda, Masakazu; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi; ,A high mutation load of m. 14597A> G in MT-ND6 causes Leigh syndrome,Scientific Reports,11,1,1-6,2021 4. Imai-Okazaki, Atsuko; Matsunaga, Ayako; Yatsuka, Yukiko; Nitta, Kazuhiro R; Kishita, Yoshihito; Sugiura, Ayumu; Sugiyama, Yohei; Fushimi, Takuya; Shimura, Masaru; Ichimoto, Keiko; ,Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients,International Journal of Cardiology,,,,2021 2020年 5. Borna, Nurun Nahar; Kishita, Yoshihito; Sakai, Norio; Hamada, Yusuke; Kamagata, Koji; Kohda, Masakazu; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi; ,Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL,Genes,11,11,1325,2020 6. Ogawa, Erika; Fushimi, Takuya; Ogawa‐Tominaga, Minako; Shimura, Masaru; Tajika, Makiko; Ichimoto, Keiko; Matsunaga, Ayako; Tsuruoka, Tomoko; Ishige, Mika; Fuchigami, Tatsuo; ,Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis,Journal of inherited metabolic disease,43,4,819-826,2020 7. Ohnuma, Kohei; Kishita, Yoshihito; Nyuzuki, Hiromi; Kohda, Masakazu; Ohtsu, Yuta; Takeo, Satomi; Asano, Tsunaki; Sato‐Miyata, Yukiko; Ohtake, Akira; Murayama, Kei; ,Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila,FEBS letters,594,13,2168-2181,2020 8. Kishita, Yoshihito; Shimura, Masaru; Kohda, Masakazu; Akita, Masumi; Imai‐Okazaki, Atsuko; Yatsuka, Yukiko; Nakajima, Yoko; Ito, Tetsuya; Ohtake, Akira; Murayama, Kei; ,A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome,Molecular genetics & genomic medicine,8,10,e1427,2020 2019年 9. Borna, Nurun Nahar; Kishita, Yoshihito; Kohda, Masakazu; Lim, Sze Chern; Shimura, Masaru; Wu, Yibo; Mogushi, Kaoru; Yatsuka, Yukiko; Harashima, Hiroko; Hisatomi, Yuichiro; ,Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome,neurogenetics,20,1,9-25,2019 10. Imai-Okazaki, Atsuko; Kishita, Yoshihito; Kohda, Masakazu; Mizuno, Yosuke; Fushimi, Takuya; Matsunaga, Ayako; Yatsuka, Yukiko; Hirata, Tomoko; Harashima, Hiroko; Takeda, Atsuhito; ,Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background,International journal of cardiology,279,,115-121,2019 11. Hirono, Keiichi; Ichida, Fukiko; Nishio, Natsuhito; Ogawa‐Tominaga, Minako; Fushimi, Takuya; ,Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report,Clinical case reports,7,3,553,2019 2018年 12. Akiyama, N; Murayama, K; Yamazaki, T; Harashima, H; Shimura, M; Fushimi, T; Ichimoto, K; Matsunaga, A; Yatsuka, Y; Kishita, Y; ,Prenatal diagnosis of mitochondrial respiratory chain disorders caused by nuclear gene mutations,EUROPEAN JOURNAL OF HUMAN GENETICS,26,,896-896,2018 13. Martin, Carol-Anne; Sarlós, Kata; Logan, Clare V; Thakur, Roshan Singh; Parry, David A; Bizard, Anna H; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A; ,Mutations in TOP3A cause a bloom syndrome-like disorder,The American Journal of Human Genetics,103,2,221-231,2018 14. Hirasaki M, Ueda A, Asaka MN, Uranishi K, Suzuki A, Kohda M, Mizuno Y, Okazaki Y, Nishimoto M, Sharif J, Koseki H, Okuda A.Hirasaki M, Ueda A, Asaka MN, Uranishi K, Suzuki A, Kohda M, Mizuno Y, Okazaki Y, Nishimoto M, Sharif J, Koseki H, Okuda A; Identification of the Coiled-Coil Domain as an Essential Mbd3 Element for Preserving Lineage Commitment Potential of Embryonic Stem Cells; Stem Cells; 2018 15. Miyauchi A, Osaka H, Nagashima M, Kuwajima M, Monden Y, Kohda M, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Yamagata T; Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation; Brain Dev; 40(6), 498-502, 2018 16. Takao M, Yamaguchi T, Eguchi H, Tada Y, Kohda M, Koizumi K, Horiguchi SI, Okazaki Y, Ishida H; Characteristics of MUTYH variants in Japanese colorectal polyposis patients; International Journal of Clinical Oncology; 23(3), 497-503, 2018 17. Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y; Barth Syndrome: Different Approaches to Diagnosis; Journal of Pediatrics; 193,256-260, 2018 2017年 18. Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H; Biallelic C1QBP mutations cause severe neonatal, childhood or later onset cardiomyopathy associated with combined respiratory chain deficiencies; Am J Hum Genet; 101(4), 525-538, 2017 19. Imai A, Kohda M, Kobayashi K, Hirata T, Sakata Y, Murayama K, Ohtake A, Okazaki Y, Nakaya A, Ott J; HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing; Hum mutat; 38(12), 1796-1800, 2017 20. Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombs A, Holt IJ, Thorburn DR, Spinazzola A; ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism; Brain; 140(6), 1595-1610, 2017 21. Borna NN, Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Tokuzawa Y, Kohda M, Nyuzuki H, Yamashita-Sugahara Y, Nasu T, Takeda A, Murayama K, Ohtake A, Okazaki Y; A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy; J Hum Genet; 62(5), 539-547, 2017 22. Ogawa E, Shimura M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Mori M, Kohda M, Kishita Y, Okazaki Y, Takahashi S, Ohtake A, Murayama K; Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients; Journal of inherited metabolic disease; , 2017 2016年 23. Imai A, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, Yatsuka Y, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y; Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy; International journal of cardiology; 221,446-449, 2016 24. Imai A, Kohda M, Nakaya A, Sakata Y, Murayama K, Ohtake A, Lathrop M, Okazaki Y, Ott J; HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families; J Hum Genet; 2016 25. Imai A, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, Harashima H, Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y; Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein; International journal of cardiology; 207,203-205, 2016 26. Kohda M, Kumamoto K, Eguchi H, Hirata T, Tada Y, Tanakaya K, Akagi K, Takenoshita S, Iwama T, Ishida H, Okazaki Y; Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies; Familial cancer; , 2016 27. Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y; A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies; PLoS genetics; 12(1), e1005679-, 2016 2015年 28. Eguchi H, Kumamoto K, Suzuki O, Kohda M, Tada Y, Okazaki Y, Ishida H; Identification of a Japanese Lynch syndrome patient with large deletion in the 3' region of the EPCAM gene; Japanese journal of clinical oncology; 46(2), 178-184, 2015 29. Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monn M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A; Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26; Am J Hum Genet; 97(5), 761-768, 2015 30. Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K; Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report; Brain & development; 37(7), 719-724, 2015 31. Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Bchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, and 28 others; Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement; Annals of Clinical and Translational Neurology; 2(5), 492-509, 2015 32. Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Brgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D; COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency; Am J Hum Genet; 96(2), 309-317, 2015 33. Awata T, Yamashita H, Kurihara S, Morita-Ohkubo T, Miyashita Y, Katayama S, Mori K, Yoneya S, Kohda M, Okazaki Y, Maruyama T, Shimada A, Yasuda K, Nishida N, Tokunaga K, Koike A; Correction: A Genome-Wide Association Study for Diabetic Retinopathy in a Japanese Population: Potential Association with a Long Intergenic Non-Coding RNA; PloS one; 10(4), e0126789-, 2015 2014年 34. Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, and 24 others; Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy; Am J Hum Genet; 95(6), 708-720, 2014 35. Takuya Awata, Hisakuni Yamashita, Susumu Kurihara, Tomoko Morita-Ohkubo, Yumi Miyashita, Shigehiro Katayama, Keisuke Mori, Shin Yoneya, Masakazu Kohda, Yasushi Okazaki, Taro Maruyama, Akira Shimada, Kazuki Yasuda, Nao Nishida, Katsushi Tokunaga, Asako Koike; A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA; PLoS ONE; 9(11), e111715-, 2014 36. Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K; Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report; Brain Dev; , 2014 37. Natsumi Uehara, Masato Mori, Yoshimi Tokuzawa, Yosuke Mizuno, Shunsuke Tamaru, Masakazu Kohda, Yohsuke Moriyama, Yutaka Nakachi, Nana Matoba, Tetsuro Sakai, Taro Yamazaki, Hiroko Harashima, Kei Murayama, Keisuke Hattori, Jun-Ichi Hayashi, Takanori Yamagata, Yasunori Fujita, Masafumi Ito, Masashi Tanaka, Ken-ichi Nibu, Akira Ohtake, Yasushi Okazaki; New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders; Ann Clin Transl Neurol; 1(5), 361-369, 2014 38. Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, Tamaru S, Yamashita Y, Kishita Y, Nakachi Y, Kohda M, Tokuzawa Y, Mizuno Y, Moriyama Y, Kato H, Okazaki Y; Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification; Biochim Biophys Acta; , 2014 2011年以前 39. Koichi Hagiwara, Hiroyuki Morino, Jun Shiihara, Tomoaki Tanaka, Hitoshi Miyazawa, Tomoko Suzuki, Masakazu Kohda, Yasushi Okazaki, Kuniaki Seyama, Hideshi Kawakami; Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients; PLoS ONE; 6(9).,e25059-, 2011 40. Huqun, Shun-ichiro Fukuyama, Hiroyuki Morino, Hiroshi Miyazawa, Tomoaki Tanaka, Tomoko Suzuki, Masakazu Kohda, Hideshi Kawakami, Yasushi Okazaki, Kuniaki Seyama, and Koichi Hagiwara; A quantitatively-modeled homozygosity mapping algorithm, HomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data; BMC Bioinformatics; , 2010 41. Miyazawa H, Kato M, Awata T, Kohda M, Iwasa H, Koyama N, Tanaka T, Huqun, Kyo S, Okazaki Y, Hagiwara K; Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients; Am J Hum Genet; 80(6), 1090-1102, 2007 和書 42. 次世代シークエンサーDRY解析教本, 学研メディカル秀潤社 2015年10月 43. 実験医学増刊 Vol.32 No.20 今日から使える! データベース・ウェブツール達人になるための実践ガイド100, 羊土社 2014年12月 ISBN:4758103437

研究テーマ

希少疾患を対象としたゲノム解析による新規原因遺伝子の解明

研究業績（論文）

2021年
1. Sawada, Keisuke; Momose, Shuji; Kawano, Ryutaro; Kohda, Masakazu; Irié, Tarou; Mishima, Kenji; Kaneko, Takahiro; Horie, Norio; Okazaki, Yasushi; Higashi, Morihiro; ,Immunohistochemical staining patterns of p53 predict the mutational status of TP53 in oral epithelial dysplasia,Modern Pathology,,,1-9,2021
2. Akiyama, Nana; Shimura, Masaru; Yamazaki, Taro; Harashima, Hiroko; Fushimi, Takuya; Tsuruoka, Tomoko; Ebihara, Tomohiro; Ichimoto, Keiko; Matsunaga, Ayako; Saito-Tsuruoka, Megumi; ,Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan,Scientific Reports,11,1,1-7,2021
3. Kishita, Yoshihito; Ishikawa, Kaori; Nakada, Kazuto; Hayashi, Jun-Ichi; Fushimi, Takuya; Shimura, Masaru; Kohda, Masakazu; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi; ,A high mutation load of m. 14597A> G in MT-ND6 causes Leigh syndrome,Scientific Reports,11,1,1-6,2021
4. Imai-Okazaki, Atsuko; Matsunaga, Ayako; Yatsuka, Yukiko; Nitta, Kazuhiro R; Kishita, Yoshihito; Sugiura, Ayumu; Sugiyama, Yohei; Fushimi, Takuya; Shimura, Masaru; Ichimoto, Keiko; ,Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients,International Journal of Cardiology,,,,2021

2020年
5. Borna, Nurun Nahar; Kishita, Yoshihito; Sakai, Norio; Hamada, Yusuke; Kamagata, Koji; Kohda, Masakazu; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi; ,Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL,Genes,11,11,1325,2020
6. Ogawa, Erika; Fushimi, Takuya; Ogawa‐Tominaga, Minako; Shimura, Masaru; Tajika, Makiko; Ichimoto, Keiko; Matsunaga, Ayako; Tsuruoka, Tomoko; Ishige, Mika; Fuchigami, Tatsuo; ,Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis,Journal of inherited metabolic disease,43,4,819-826,2020
7. Ohnuma, Kohei; Kishita, Yoshihito; Nyuzuki, Hiromi; Kohda, Masakazu; Ohtsu, Yuta; Takeo, Satomi; Asano, Tsunaki; Sato‐Miyata, Yukiko; Ohtake, Akira; Murayama, Kei; ,Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila,FEBS letters,594,13,2168-2181,2020
8. Kishita, Yoshihito; Shimura, Masaru; Kohda, Masakazu; Akita, Masumi; Imai‐Okazaki, Atsuko; Yatsuka, Yukiko; Nakajima, Yoko; Ito, Tetsuya; Ohtake, Akira; Murayama, Kei; ,A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome,Molecular genetics & genomic medicine,8,10,e1427,2020

2019年
9. Borna, Nurun Nahar; Kishita, Yoshihito; Kohda, Masakazu; Lim, Sze Chern; Shimura, Masaru; Wu, Yibo; Mogushi, Kaoru; Yatsuka, Yukiko; Harashima, Hiroko; Hisatomi, Yuichiro; ,Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome,neurogenetics,20,1,9-25,2019
10. Imai-Okazaki, Atsuko; Kishita, Yoshihito; Kohda, Masakazu; Mizuno, Yosuke; Fushimi, Takuya; Matsunaga, Ayako; Yatsuka, Yukiko; Hirata, Tomoko; Harashima, Hiroko; Takeda, Atsuhito; ,Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background,International journal of cardiology,279,,115-121,2019
11. Hirono, Keiichi; Ichida, Fukiko; Nishio, Natsuhito; Ogawa‐Tominaga, Minako; Fushimi, Takuya; ,Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report,Clinical case reports,7,3,553,2019

2018年
12. Akiyama, N; Murayama, K; Yamazaki, T; Harashima, H; Shimura, M; Fushimi, T; Ichimoto, K; Matsunaga, A; Yatsuka, Y; Kishita, Y; ,Prenatal diagnosis of mitochondrial respiratory chain disorders caused by nuclear gene mutations,EUROPEAN JOURNAL OF HUMAN GENETICS,26,,896-896,2018
13. Martin, Carol-Anne; Sarlós, Kata; Logan, Clare V; Thakur, Roshan Singh; Parry, David A; Bizard, Anna H; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A; ,Mutations in TOP3A cause a bloom syndrome-like disorder,The American Journal of Human Genetics,103,2,221-231,2018
14. Hirasaki M, Ueda A, Asaka MN, Uranishi K, Suzuki A, Kohda M, Mizuno Y, Okazaki Y, Nishimoto M, Sharif J, Koseki H, Okuda A.Hirasaki M, Ueda A, Asaka MN, Uranishi K, Suzuki A, Kohda M, Mizuno Y, Okazaki Y, Nishimoto M, Sharif J, Koseki H, Okuda A; Identification of the Coiled-Coil Domain as an Essential Mbd3 Element for Preserving Lineage Commitment Potential of Embryonic Stem Cells; Stem Cells; 2018
15. Miyauchi A, Osaka H, Nagashima M, Kuwajima M, Monden Y, Kohda M, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Yamagata T; Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation; Brain Dev; 40(6), 498-502, 2018
16. Takao M, Yamaguchi T, Eguchi H, Tada Y, Kohda M, Koizumi K, Horiguchi SI, Okazaki Y, Ishida H; Characteristics of MUTYH variants in Japanese colorectal polyposis patients; International Journal of Clinical Oncology; 23(3), 497-503, 2018
17. Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y; Barth Syndrome: Different Approaches to Diagnosis; Journal of Pediatrics; 193,256-260, 2018

2017年
18. Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H; Biallelic C1QBP mutations cause severe neonatal, childhood or later onset cardiomyopathy associated with combined respiratory chain deficiencies; Am J Hum Genet; 101(4), 525-538, 2017
19. Imai A, Kohda M, Kobayashi K, Hirata T, Sakata Y, Murayama K, Ohtake A, Okazaki Y, Nakaya A, Ott J; HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing; Hum mutat; 38(12), 1796-1800, 2017
20. Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombs A, Holt IJ, Thorburn DR, Spinazzola A; ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism; Brain; 140(6), 1595-1610, 2017
21. Borna NN, Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Tokuzawa Y, Kohda M, Nyuzuki H, Yamashita-Sugahara Y, Nasu T, Takeda A, Murayama K, Ohtake A, Okazaki Y; A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy; J Hum Genet; 62(5), 539-547, 2017
22. Ogawa E, Shimura M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Mori M, Kohda M, Kishita Y, Okazaki Y, Takahashi S, Ohtake A, Murayama K; Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients; Journal of inherited metabolic disease; , 2017

2016年
23. Imai A, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, Yatsuka Y, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y; Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy; International journal of cardiology; 221,446-449, 2016
24. Imai A, Kohda M, Nakaya A, Sakata Y, Murayama K, Ohtake A, Lathrop M, Okazaki Y, Ott J; HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families; J Hum Genet; 2016
25. Imai A, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, Harashima H, Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y; Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein; International journal of cardiology; 207,203-205, 2016
26. Kohda M, Kumamoto K, Eguchi H, Hirata T, Tada Y, Tanakaya K, Akagi K, Takenoshita S, Iwama T, Ishida H, Okazaki Y; Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies; Familial cancer; , 2016
27. Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y; A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies; PLoS genetics; 12(1), e1005679-, 2016

2015年
28. Eguchi H, Kumamoto K, Suzuki O, Kohda M, Tada Y, Okazaki Y, Ishida H; Identification of a Japanese Lynch syndrome patient with large deletion in the 3' region of the EPCAM gene; Japanese journal of clinical oncology; 46(2), 178-184, 2015
29. Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monn M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A; Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26; Am J Hum Genet; 97(5), 761-768, 2015
30. Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K; Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report; Brain & development; 37(7), 719-724, 2015
31. Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Bchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, and 28 others; Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement; Annals of Clinical and Translational Neurology; 2(5), 492-509, 2015
32. Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Brgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D; COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency; Am J Hum Genet; 96(2), 309-317, 2015
33. Awata T, Yamashita H, Kurihara S, Morita-Ohkubo T, Miyashita Y, Katayama S, Mori K, Yoneya S, Kohda M, Okazaki Y, Maruyama T, Shimada A, Yasuda K, Nishida N, Tokunaga K, Koike A; Correction: A Genome-Wide Association Study for Diabetic Retinopathy in a Japanese Population: Potential Association with a Long Intergenic Non-Coding RNA; PloS one; 10(4), e0126789-, 2015

2014年
34. Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, and 24 others; Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy; Am J Hum Genet; 95(6), 708-720, 2014
35. Takuya Awata, Hisakuni Yamashita, Susumu Kurihara, Tomoko Morita-Ohkubo, Yumi Miyashita, Shigehiro Katayama, Keisuke Mori, Shin Yoneya, Masakazu Kohda, Yasushi Okazaki, Taro Maruyama, Akira Shimada, Kazuki Yasuda, Nao Nishida, Katsushi Tokunaga, Asako Koike; A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA; PLoS ONE; 9(11), e111715-, 2014
36. Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K; Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report; Brain Dev; , 2014
37. Natsumi Uehara, Masato Mori, Yoshimi Tokuzawa, Yosuke Mizuno, Shunsuke Tamaru, Masakazu Kohda, Yohsuke Moriyama, Yutaka Nakachi, Nana Matoba, Tetsuro Sakai, Taro Yamazaki, Hiroko Harashima, Kei Murayama, Keisuke Hattori, Jun-Ichi Hayashi, Takanori Yamagata, Yasunori Fujita, Masafumi Ito, Masashi Tanaka, Ken-ichi Nibu, Akira Ohtake, Yasushi Okazaki; New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders; Ann Clin Transl Neurol; 1(5), 361-369, 2014
38. Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, Tamaru S, Yamashita Y, Kishita Y, Nakachi Y, Kohda M, Tokuzawa Y, Mizuno Y, Moriyama Y, Kato H, Okazaki Y; Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification; Biochim Biophys Acta; , 2014

2011年以前
39. Koichi Hagiwara, Hiroyuki Morino, Jun Shiihara, Tomoaki Tanaka, Hitoshi Miyazawa, Tomoko Suzuki, Masakazu Kohda, Yasushi Okazaki, Kuniaki Seyama, Hideshi Kawakami; Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients; PLoS ONE; 6(9).,e25059-, 2011
40. Huqun, Shun-ichiro Fukuyama, Hiroyuki Morino, Hiroshi Miyazawa, Tomoaki Tanaka, Tomoko Suzuki, Masakazu Kohda, Hideshi Kawakami, Yasushi Okazaki, Kuniaki Seyama, and Koichi Hagiwara; A quantitatively-modeled homozygosity mapping algorithm, HomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data; BMC Bioinformatics; , 2010
41. Miyazawa H, Kato M, Awata T, Kohda M, Iwasa H, Koyama N, Tanaka T, Huqun, Kyo S, Okazaki Y, Hagiwara K; Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients; Am J Hum Genet; 80(6), 1090-1102, 2007

和書
42. 次世代シークエンサーDRY解析教本, 学研メディカル秀潤社 2015年10月
43. 実験医学増刊 Vol.32 No.20 今日から使える! データベース・ウェブツール達人になるための実践ガイド100, 羊土社 2014年12月 ISBN:4758103437

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