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研究業績詳細

岡﨑康司（オカザキヤスシ）

研究テーマ	ミトコンドリア呼吸鎖異常症のゲノム解析•病態解明／診断疾患•遺伝性腫瘍症候群のゲノム•オミックス解析／糖尿病の治療を目指した膵β細胞•膵島の再生ゲノム医学研究／診断マーカー開発、新規生理活性物質の探索
研究業績（論文）	「英文原著」 [2022] 1. Utsunomiya H, Akazawa Y, Ueyama H, Iwano T, Yamamoto M, Uchida R, Oki S, Suzuki N, Abe D, Ikeda A, Takeda T, Ueda K, Hojo M, Yube Y, Kaji S, Okano S, Tsuyama S, Eguchi H, Okazaki Y, Arai M, Fukunaga T, Yao T, Nagahara A. Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging: A Case Report. Intern Med. 2023 Mar 31. doi: 10.2169/internalmedicine.1612-23. Online ahead of print.PMID: 37005260 2. Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M. Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. Ann Neurol. 2023 Feb;93(2):330-335. doi: 10.1002/ana.26544. Epub 2022 Nov 18.PMID: 36333996 3. Fujitani Hiroo, Eguchi Hidetaka, Kochi Yuta, Arai Tomio, Muramatsu Masaaki, Okazaki Yasushi. Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study. Eur J Cancer Prev. 2023 May 1;32(3): 286-297.doi:10.1097/CEJ.0000000000000787. Epub 2023 Mar 2. PMID: 36896836: PMCID: PMC10063194. 4. Naganuma T, Imasawa T, Nukui I, Wakasugi M, Kitamura H, Yatsuka Y, Kishita Y, Okazaki Y, Murayama K, Jinguji Y. Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report. Mol Genet Metab Rep. 2023 Mar 9;35:100963. doi: 10.1016/j.ymgmr.2023.100963. eCollection 2023 Jun. 5. Kananazawa Y, Yamada T, Yamaguchi T, Saito Y, Kakinuma D, Masuda Y, Ando F, Ohashi R, Eguchi H, Okazaki Y, Ishida H, Yoshida H.A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Jpn J Clin Oncol. 2023 Mar 7;53(3):275-279. doi: 10.1093/jjco/hyac189. PMID: 36546711 6. Sayaka Suzuki-Ajihara , Megumi Saito-Tsuruoka , Hiroko Harashima , Katsumi Arai , Hiroyoshi Koide , Yukiko Yatsuka , Atsuko Imai-Okazaki , Yasushi Okazaki , Kei Murayama , Chikahiko Numakura , Yuko Akioka , Akira Ohtake .Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G>A MT-TS2 pathogenic variant in a Japanese family. Mol Genet Metab Rep.2023 Mar 17;35: 100966.doi: 10.1016/j.ymgmr.2023.100966. eCollection 2023 Jun. PMID: 36967720; PMCID: PMC10034148. 7. Johnson TA, Maekawa S, Fujita M, An J, Ju YS, Maejima K, Kanazashi Y, Jikuya R, Okawa Y, Sasagawa S, Yagi K, Okazaki Y, Kuroda N, Takata R, Obara W, Nakagawa H. Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis. Hum Mol Genet. 2023 Jan 6;32(2):290-303. doi: 10.1093/hmg/ddac180. PMID: 35981075 8. Chika Watanabe , Hitoshi Osaka , Miyuki Watanabe , Akihiko Miyauchi, Eriko F Jimbo , Takeshi Tokuyama , Hideki Uosaki , Yoshihito Kishita , Yasushi Okazaki, Takanori Onuki , Tomohiro Ebihara , Kenichi Aizawa , Kei Murayama , Akira Ohtake , Takanori Yamagata. Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease. Mol Genet Metab Rep. 2023 Jan 3;34: 100951.doi: 10.1016/j.ymgmr.2022.100951. eCollection 2023 Mar. PMID: 36632326: PMCID: 9826971 9. Ayane Ohyama-Tamagake, Kimihiko Kaneko, Ryo Itami, Masatsugu Nakano, Yasuhiro Namioka, Rumiko Izumi, Haruka Sato, Hideaki Suzuki, Atsuhito Takeda, Yasushi Okazaki, Yukiko Yatsuka, Takaaki Abe, Kei Murayama, Naoto Sugeno, Tatsuro Misu, Masashi Aoki. Adult-onset Leigh Syndrome with a m.9176 T>C Mutation Manifested as Reversible Cerebral Vasoconstriction Syndrome.Intern Med..2022 Dec 21. doi: 10.2169/internalmedicine.0773-22. Online ahead of print. PMID: 36543208. 34987801 10. Yip CW, Hon CC, Yasuzawa K, Sivaraman DM, Ramilowski JA, Shibayama Y, Agrawal S, Prabhu AV, Parr C, Severin J, Lan YJ, Dostie J, Petri A, Nishiyori-Sueki H, Tagami M, Itoh M, López-Redondo F, Kouno T, Chang JC, Luginbühl J, Kato M, Murata M, Yip WH, Shu X, Abugessaisa I, Hasegawa A, Suzuki H, Kauppinen S, Yagi K, Okazaki Y, Kasukawa T, de Hoon M, Carninci P, Shin JW. Antisense-oligonucleotide-mediated perturbation of long non-coding RNA reveals functional features in stem cells and across cell types. Cell Rep. 2022 Dec 27;41(13):111893. doi: 10.1016/j.celrep.2022.111893. 11. Kobayashi M, Suzuki Y, Nodera M, Matsunaga A, Kohda M, Okazaki Y, Murayama K,Yamagata T, Osaka H. A Japanese patient with neonatal biotin-responsive basal ganglia disease. Hum Genome Var. 2022 Sep 29;9(1):35. doi:10.1038/s41439-022-00210-z. PMID: 36175418; PMCID: PMC9522647.　 12. Shimozawa H, Sato T, Osaka H, Takeda A, Miyauchi A, Omika N, Yada Y, Kono Y, Murayama K, Okazaki Y, Kishita Y, Yamagata T. A Case of Infantile Mitochondrial Cardiomyopathy Treated with a Combination of Low-Dose Propranolol and Cibenzoline for Left Ventricular Outflow Tract Stenosis. Int Heart J. 2022 Sep30;63(5):970-977. doi: 10.1536/ihj.21-859. Epub 2022 Sep 14. PMID: 36104228.　　 13. Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Ichimoto K, Naruke Y, Akiyama N, Lim SC, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Okazaki A, Ohtake A, Okazaki Y, Murayama K. Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion. Mol Genet Metab Rep.2022 Aug 24; 33:100912. doi: 10.1016/j.ymgmr.2022.100912. PMID: 36061954; PMCID:PMC9428837.　 14. Imai-Okazaki A, Nitta KR, Yatsuka Y, Sugiura A, Arao M, Shimura M, Ebihara T, Onuki T, Ichimoto K, Ohtake A, Murayama K, Okazaki Y. Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease. J Inherit Metab Dis. 2022 Aug 13.doi: 10.1002/jimd.12547. Epub ahead of print. PMID: 36053827.　 15. Yoshida N, Ishikawa H, Eguchi H, Okazaki Y, Hirose R, Inoue K, Dohi O, Itoh Y, Mutoh M, Ishiguro S, Ishida H. Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis. Case RepGastroenterol. 2022 Jun 13;16(2):375-381. doi: 10.1159/000524944. PMID: 35949244; PMCID: PMC9247489. 16. Kawata-Shimamura Y, Eguchi H, Kawabata-Iwakawa R, Nakahira M, Okazaki Y, Yoda,T, Grénman R, Sugasawa M, Nishiyama M. Biomarker discovery for practice of precision medicine in hypopharyngeal cancer: a theranostic study on response prediction of the key therapeutic agents. BMC Cancer. 2022 Jul 16;22(1):779.doi: 10.1186/s12885-022-09853-1. PMID: 35841085; PMCID: PMC9288037. 　 17. Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med. 2022 Apr 5;14(1):38.doi: 10.1186/s13073-022-01019-9. PMID: 35379322; PMCID: PMC8981716.　 18. Mori Y, Amano K, Chikatani K, Ito T, Suzuki O, Kamae N, Hatano S, Chika N, Yamamoto A, Ishibashi K, Eguchi H, Okazaki Y, Iwama T, Ishida H. Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan. Int J Clin Oncol. 2022 Jun;27(6):1034-1042. doi: 10.1007/s10147-022-02146-4. Epub 2022 Mar 11. PMID:35274183.　 19. Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Eguchi H, Okazaki Y, Akagi K, Tamaru JI, Arai T, Yamaguchi T, Ishida H. Corrigendum to: Prevalence and clinicopathological/molecular characteristics of mismatch repair protein- deficient tumours among surgically treated patients with prostate cancer in a Japanese hospital-based population.Jpn J Clin Oncol. 2022 Apr 6;52(4):402. doi:10.1093/jjco/hyac021. Erratum for: Jpn J Clin Oncol. 2021 Apr 1;51(4):639-645.PMID: 35137153. 36053827 　 20. Tong D, Tanaka M, Eguchi H, Okazaki Y, Muramatsu M, Arai T. COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study.Mol Clin Oncol. 2022 Feb;16(2):32. doi: 10.3892/mco.2021.2465. Epub 2021 Dec 14. PMID: 34987801 Free PMC article. [2021] 21. Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K. Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A. Mitochondrion. 2022 Mar;63:1-8. doi: 10.1016/j.mito.2021.12.005. Epub 2021 Dec 18. PMID: 34933128 Free article. 22. Hashimoto M, Saito Y, Nakagawa R, Ogahara I, Takagi S, Takata S, Amitani H, Endo M, Yuki H, Ramilowski JA, Severin J, Manabe RI, Watanabe T, Ozaki K, Kaneko A, Kajita H, Fujiki S, Sato K, Honma T, Uchida N, Fukami T, Okazaki Y, Ohara O, Shultz LD, Yamada M, Taniguchi S, Vyas P, de Hoon M, Momozawa Y, Ishikawa F.Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive acute myeloid leukemia.Nat Cancer. 2021 Mar;2(3):340-356. doi: 10.1038/s43018-021-00177-w. Epub 2021 Mar 18. PMID: 35121960 23. Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K. Valine metabolites analysis in ECHS1 deficiency. Mol Genet Metab Rep 2021;29:100809.PMID: 34667719, PMCID: PMC8507190 (doi: 10.1016/j.ymgmr.2021.100809.) 24. Ozaki K, Irioka T, Uchihara T, Yamada A, Nakamura A, Majima T, Igarashi S, Shintaku H, Yakeishi M, Tsuura Y, Okazaki Y, Ishikawa K, Yokota T. Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study. Acta Neuropathol Commun 2021;9(1):172.PMID: 34689836, PMCID: PMC8543940 (doi: 10.1186/s40478-021-01272-w.) 25. Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta K.R, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K. Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis. Arch Dis Child Fetal Neonatal Ed 　2022 May;107(3):329-334. doi:10.1136/archdischild-2021-321633. Epub 2021 Oct 7.　PMID: 34625524 26. Keisuke Sawada, Shuji Momose, Ryutaro Kawano, Masakazu Kohda, Tarou Irié, Kenji Mishima, Takahiro Kaneko, Norio Horie, Yasushi Okazaki, Morihiro Higashi, and Jun-ichi Tamaru [Paper #MP-21-0371-A-R]. Immunohistochemical staining patterns of p53 predict the mutational status of TP53 in oral epithelial dysplasia: implication for the diagnostic utility. Mod Pathol 2021.PMID: 34404905 27. Kimura-Nakajima C, Sakaguchi K, Hatano Y, Matsumoto M, Okazaki Y, Tanaka K, Yamane T, Oishi Y, Kamimoto K, Iwatsuki K. Ngn3-Positive Cells Arise from Pancreatic Duct Cells. Int J Mol Sci 2021;22(16):8548. PMID: 34445257, PMCID: PMC8395223 (doi: 10.3390/ijms22168548.) 28. Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta K.R, Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y. Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Hum Mutat 2021;42(11):1422-1428. PMID: 34405929 (doi: 10.1002/humu.24274. Online ahead of print.) 29. Shintaro Kinoshita, Miki Ando, Jun Ando, Midori Ishii, Yoshiki Furukawa, Osamu Tomita, Yoko Azusawa, Shuichi Shirane, Yoshihito Kishita, Yukiko Yatsuka, Hidetaka Eguchi, Yasushi Okazaki, Norio Komatsu. Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome. Heliyon 2021;7(8):e07804. PMID: 34458631, PMCID: PMC8379496 (doi: 10.1016/j.heliyon.2021.e07804. eCollection 2021 Aug.) 30. Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta K.R, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. Int J Cardiol 2021 341:48-55. PMID: 34298071 (doi: 10.1016/j.ijcard.2021.06.042.) 31. Inaba A, Arinaga A, Tanaka K, Endo T, Hayatsu N, Okazaki Y, Yamane T, Oishi Y, Imai H, Iwatsuki K. Interleukin-4 Promotes Tuft Cell Differentiation and Acetylcholine Production in Intestinal Organoids of Non-Human Primate. Int J Mol Sci 2021;22(15)7921. PMID: 34360687, PMCID: PMC8348364, DOI: 10.3390/ijms22157921 (2021 Jul 24;22(15):7921. doi: 10.3390/ijms22157921) 32. Watanabe A, Tanaka A, Koga C, Matsumoto M, Okazaki Y, Kin T, Miyajima A. CD82 is a marker to isolate beta cell precursors from human iPS cells and plays a role for the maturation of beta cells. Sci Rep 2021;11(1):9530. PMID: 33953224, PMCID: PMC8100138. (2021 May 5;11(11):9530. doi: doi: 10.1038/s41598-021-88978-y) 33. Aiba K, Nakamura Y, Sugimoto M, Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S. A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction. Eur J Med Genet 2021;64(8):104251. PMID: 34051360, DOI: 10.1016/j.ejmg.2021.104251 (2021 Aug;64(8):104251. doi: 10.1016/j.ejmg.2021.104251. Epub 2021 May 27.) 34. Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan. Sci Rep 2021;11(1):3531. PMID: 33574353, PMCID: PMC7878886, DOI: 10.1038/s41598-021-81015-y (2021 Feb 11;11(1):3531. doi: 10.1038/s41598-021-81015-y.) Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan. Sci Rep 2021;11(1):22682. PMID: 34785734, PMCID: PMC8595368 (doi: 10.1038/s41598-021-02108-2.) *12.のAuthour’s correctionなので、業績としては12.のオリジナルを載せる。 35. Frazier A.E, Compton A.G, Kishita Y, Hock D.H, Welch A.E, Amarasekera S.S.C, Rius R, Formosa L.E, Imai-Okazaki A, Francis D, Wang M, Lake N.J, Tregoning S, Jabbari J.S, Lucattini A, Nitta K.R, Ohtake A, Murayama K, Amor D.J, McGillivray G, Wong F.Y, van der Knaap M.S, Jeroen Vermeulen R, Wiltshire E.J, Fletcher J.M, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann M.L, Arbuckle S, Rodriguez M, Taft R.J, Sadedin S, Cowley M.J, Minoche A.E, Calvo S.E, Mootha V.K, Ryan M.T, Okazaki Y, Stroud D.A, Simons C, Christodoulou J, Thorburn D.R. Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. Med (N Y) 2021;2(1):49-73. PMID: 33575671, PMCID: PMC7875323, DOI: 10.1016/j.medj.2020.06.004 (2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9.) 36. Imai-Okazaki A, Yagi N, Nitta K.R, Murayama K, Ohtake A, Okazaki Y. Clinical heterogeneity in patients with m.4412G>A MT-TM mutation and different heteroplasmy levels. Mitochondrion 2021;59:214-215. PMID: 34089906, DOI: 10.1016/j.mito.2021.06.001 (2021 Jun 3;59:214-215. doi: 10.1016/j.mito.2021.06.001. Online ahead of print.) 37. Ito T, Suzuki O, Kamae N, Tamaru J.I, Arai T, Yamaguchi T, Akagi K, Eguchi H, Okazaki Y, Mochiki E, Ishida H. Comprehensive analysis of DNA mismatch repair-deficient gastric cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(6):886-894. PMID: 33728435, DOI: 10.1093/jjco/hyab026 (2021 May 28;51(6):886-894. doi: 10.1093/jjco/hyab026.) 38. Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Eguchi H, Okazaki Y, Akagi K, Tamaru J.I, Arai T, Yamaguchi T, Ishida H. Prevalence and clinicopathological/molecular characteristics of mismatch repair protein-deficient tumours among surgically treated patients with prostate cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(4):639-645. PMID: 33244609, DOI: 10.1093/jjco/hyaa207 (2021 Apr 1;51(4):639-645. doi: 10.1093/jjco/hyaa207.) 39. Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Kamae N, Eguchi H, Okazaki Y, Yamamoto G, Akagi K, Tamaru J.I, Yamaguchi T, Arai T, Ishida H. Identification of Lynch syndrome-associated DNA mismatch repair-deficient bladder cancer in a Japanese hospital-based population. Int J Clin Oncol 2021;26(8):1524-1532. PMID: 34213665, DOI: 10.1007/s10147-021-01922-y (2021 Jul 2. doi: 10.1007/s10147-021-01922-y. Online ahead of print.) 40. Kishita Y, Ishikawa K, Nakada K, Hayashi J.I, Fushimi T, Shimura M, Kohda M, Ohtake A, Murayama K, Okazaki Y. A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome. Sci Rep 2021;11(1):11123. PMID: 34045482, PMCID: PMC8160132, DOI: 10.1038/s41598-021-90196-5 (2021 May 27;11(1):11123. doi: 10.1038/s41598-021-90196-5.) 41. Natsume S, Yamaguchi T, Eguchi H, Okazaki Y, Horiguchi S.I, Ishida H. Germline deletion of chromosome 2p16-21 associated with Lynch syndrome. Hum Genome Var 2021;8(1):19. PMID: 34012011, PMCID: PMC8134480, DOI: 10.1038/s41439-021-00152-y (2021 May 19;8(1):19. doi: 10.1038/s41439-021-00152-y.) 42. Takao M, Yamaguchi T, Eguchi H, Yamada T, Okazaki Y, Tomita N, Nomizu T, Momma T, Takayama T, Tanakaya K, Akagi K, Ishida H. APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients. Int J Clin Oncol 2021;26(9)1661-1670. PMID: 34106356, DOI: 10.1007/s10147-021-01946-4 (Jun 9. doi: 10.1007/s10147-021-01946-4. Online ahead of print.) 43. Watanabe A, Tanaka A, Koga C, Matsumoto M, Okazaki Y, Kin T, Miyajima A. CD82 is a marker to isolate beta cell precursors from human iPS cells and plays a role for the maturation of beta cells. Sci Rep 2021;11(1):9530. PMID: 33953224, PMCID: PMC8100138, DOI: 10.1038/s41598-021-88978-y (2021 May 5;11(1):9530. doi: 10.1038/s41598-021-88978-y.) 44. Yamamoto A, Yamaguchi T, Suzuki O, Ito T, Chika N, Kamae N, Tamaru J.I, Nagai T, Seki H, Arai T, Tachikawa T, Akagi K, Eguchi H, Okazaki Y, Ishida H. Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(1):60-69. PMID: 32844218, DOI: 10.1093/jjco/hyaa142 (2021 Jan 1;51(1):60-69. doi: 10.1093/jjco/hyaa142.) 45. Ito T, Suzuki O, Kamae N, Tamaru J.I, Arai T, Yamaguchi T, Akagi K, Eguchi H, Okazaki Y, Mochiki E, Ishida H. Comprehensive analysis of DNA mismatch repair-deficient gastric cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(6):886-894. PMID: 33728435, DOI: 10.1093/jjco/hyab026 (2021 May 28;51(6):886-894. doi: 10.1093/jjco/hyab026.) 46. Sato Y, Aoki R, Nagano N, Takano C, Seimiya A, Kato R, Ogawa E, Ishige M, Okazaki Y, Murayama K, Morioka I. Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease. Sci Prog 2021;104(2):368504211011873. PMID: 33890810, DOI: 10.1177/00368504211011873 (Apr-Jun 2021;104(2):368504211011873. doi: 10.1177/00368504211011873.) [2020] 47. Borna N.N, Kishita Y, Abe J, Furukawa T, Ogawa-Tominaga M, Fushimi T, Imai-Okazaki A, Takeda A, Ohtake A, Murayama K, Okazaki Y. NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness. Brain 2020;143(7):e54. PMID: 32462209, DOI: 10.1093/brain/awaa130 (2020 Jul 1;143(7):e54. doi: 10.1093/brain/awaa130.) 48. Borna N.N, Kishita Y, Sakai N, Hamada Y, Kamagata K, Kohda M, Ohtake A, Murayama K, Okazaki Y. Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL. Genes (Basel) 2020;11(11). PMID: 33182419, PMCID: PMC7697158, DOI: 10.3390/genes11111325 (2020 Nov 9;11(11):1325. doi: 10.3390/genes11111325.) 49. Chikatani K, Chika N, Suzuki O, Sakimoto T, Ishibashi K, Eguchi H, Okazaki Y, Ishida H. 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PMID: 24462578 「和文総説」 1. 木下善仁, 岡崎康司. 【ミトコンドリアと病気】(第1章)ミトコンドリア病の診断　ミトコンドリア病における包括的遺伝子検査. 遺伝子医学MOOK(1349-2527)35号 Page48-54(2020.05) 2. 江口英孝, 岡崎康司, 石田秀行, SGHGCSグループ. 【研究者間、研究者-医療者間のリンケージ】次世代シーケエンシング技術を用いた遺伝子解析による遺伝性消化管腫瘍症候群の診断法確立に関する研究グループ(SGHGCS). 家族性腫瘍(1346-1052)19巻1号 Page15-18(2019.09) 3. 江口英孝, 岡崎康司. 【腎泌尿器の遺伝性疾患・難病医療】次世代遺伝子解析技術を用いた希少難治性疾患の原因究明. 腎臓内科・泌尿器科(2188-9147)9巻5号 Page442-447(2019.05) 4. 江口英孝, 岡崎康司. 【リンチ症候群と遺伝性消化管ポリポーシス】遺伝学的検査とその臨床応用　リンチ症候群関連の遺伝学的検査. 臨床消化器内科(0911-601X)34巻6号 Page661-666(2019.05) 5. 松永綾子[藤浪], 倉信奈緒美, 田鹿牧子, 志村優, 伏見拓矢, 市本景子, 鶴岡智子, 千葉文子, 山本琢磨, 岡崎康司, 大竹明, 村山圭. 乳幼児突然死における原因検索ネットワークの構築　遺伝性疾患を見逃さないために. 日本SIDS・乳幼児突然死予防学会雑誌(1346-1680)18巻1号 Page34-38(2018.12) 6. 新井正美, 加藤俊介, 岡崎康司, 【ゲノム医療の実用化に向けた現状と課題】がん領域、特に遺伝性腫瘍におけるゲノム医療に関する最近の動向. 臨床医薬(0910-8211)34巻8号 Page583-589(2018.08) 7. 岡﨑康司. 【ゲノム医療の実用化に向けた現状と課題】全ゲノム情報を活用した米国医療の現状. 臨床医薬(0910-8211)34巻8号 Page561-566(2018.08) 8. 新井一(順天堂大学), 岡崎康司, 西川伸一【ゲノム医療の実用化に向けた現状と課題】座談会「ゲノム医療の未来」　全ゲノム解析がもたらす近未来の世界(座談会/特集)  臨床医薬 (0910-8211)34巻8号 Page590-594(2018.08) 9. 江口英孝, 岡﨑康司：日本のがんゲノム医療の現状と展望．呼吸器内科33（3）, 285-291, 科学評論社 (2018.3) 10. 大竹明, 村山圭, 岡﨑康司：ミトコンドリア病の診断 (特集先天代謝異常症 : エキスパートによる最新情報) -- (各疾患の進歩). 小児科診療 79(6)：789-795, 診断と治療社（2016-06） 11. 神田将和, 岡﨑康司：ミトコンドリア呼吸鎖異常症のゲノム解析, バイオサイエンスとインダストリー2016　Vol.74(2016) 12. 岡﨑康司, 菅原哲雄：ラボノートの書き方-記載上の留意点-　今更聞けないシリーズ：No.96 知財管理Vol.65 No.8 (2015) 13. 大竹　明, 岡﨑康司：「ミトコンドリア病の治療と予防」　機能性アミノ酸5-アミノレブリン酸の科学と医学応用-がんの診断・治療を中心に-　ポルフィリン-ALA学会編　現代科学・増刊45　東京化学同人（2015） 14. 岡﨑康司：「次世代シーケンサーを用いたミトコンドリア疾患の機能解析」アンチ・エイジング医学-日本抗加齢医学会雑誌 Vol.11 No.3 メディカルレビュー社（2015.6.1発行） 15. 岡﨑康司, 大竹明：別冊・医学のあゆみエクソーム解析－成果と将来 11.「トコンドリア呼吸鎖異常症のエクソーム解析」P68-74 医歯薬(2014) 16. 岡﨑康司, 大竹明：医学のあゆみエクソーム解析－成果と将来「トコンドリア呼吸鎖異常症のエクソーム解析」245(5)408-14 医歯薬(2013) 「和文著書」 1. 大竹明，岡﨑康司，村山圭　監訳：代謝ナビゲーション Navdeep S.Chandel著　NAVIGATING METABOLISM　メディカル・サイエンス・インターナショナル（2017） 2. 岡﨑康司，隅蔵康一：理系なら知っておきたいラボノートの書き方改訂版―論文作成, データ捏造防止,　特許に役立つ書き方+管理法がよくわかる！羊土社 (2016)

研究テーマ

ミトコンドリア呼吸鎖異常症のゲノム解析•病態解明／診断疾患•遺伝性腫瘍症候群のゲノム•オミックス解析／糖尿病の治療を目指した膵β細胞•膵島の再生ゲノム医学研究／診断マーカー開発、新規生理活性物質の探索

研究業績（論文）

「英文原著」
[2022]
1. Utsunomiya H, Akazawa Y, Ueyama H, Iwano T, Yamamoto M, Uchida R, Oki S, Suzuki N, Abe D, Ikeda A, Takeda T, Ueda K, Hojo M, Yube Y, Kaji S, Okano S, Tsuyama S, Eguchi H, Okazaki Y, Arai M, Fukunaga T, Yao T, Nagahara A. Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging: A Case Report. Intern Med. 2023 Mar 31. doi: 10.2169/internalmedicine.1612-23. Online ahead of print.PMID: 37005260

2. Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M. Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. Ann Neurol. 2023 Feb;93(2):330-335. doi: 10.1002/ana.26544. Epub 2022 Nov 18.PMID: 36333996

3. Fujitani Hiroo, Eguchi Hidetaka, Kochi Yuta, Arai Tomio, Muramatsu Masaaki, Okazaki Yasushi. Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study. Eur J Cancer Prev. 2023 May 1;32(3): 286-297.doi:10.1097/CEJ.0000000000000787. Epub 2023 Mar 2. PMID: 36896836: PMCID: PMC10063194.

4. Naganuma T, Imasawa T, Nukui I, Wakasugi M, Kitamura H, Yatsuka Y, Kishita Y, Okazaki Y, Murayama K, Jinguji Y. Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report. Mol Genet Metab Rep. 2023 Mar 9;35:100963. doi: 10.1016/j.ymgmr.2023.100963. eCollection 2023 Jun.

5. Kananazawa Y, Yamada T, Yamaguchi T, Saito Y, Kakinuma D, Masuda Y, Ando F, Ohashi R, Eguchi H, Okazaki Y, Ishida H, Yoshida H.A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Jpn J Clin Oncol. 2023 Mar 7;53(3):275-279. doi: 10.1093/jjco/hyac189. PMID: 36546711

6. Sayaka Suzuki-Ajihara , Megumi Saito-Tsuruoka , Hiroko Harashima , Katsumi Arai , Hiroyoshi Koide , Yukiko Yatsuka , Atsuko Imai-Okazaki , Yasushi Okazaki , Kei Murayama , Chikahiko Numakura , Yuko Akioka , Akira Ohtake .Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G>A MT-TS2 pathogenic variant in a Japanese family. Mol Genet Metab Rep.2023 Mar 17;35: 100966.doi: 10.1016/j.ymgmr.2023.100966. eCollection 2023 Jun. PMID: 36967720; PMCID: PMC10034148.

7. Johnson TA, Maekawa S, Fujita M, An J, Ju YS, Maejima K, Kanazashi Y, Jikuya R, Okawa Y, Sasagawa S, Yagi K, Okazaki Y, Kuroda N, Takata R, Obara W, Nakagawa H. Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis. Hum Mol Genet. 2023 Jan 6;32(2):290-303. doi: 10.1093/hmg/ddac180. PMID: 35981075

8. Chika Watanabe , Hitoshi Osaka , Miyuki Watanabe , Akihiko Miyauchi, Eriko F Jimbo , Takeshi Tokuyama , Hideki Uosaki , Yoshihito Kishita , Yasushi Okazaki, Takanori Onuki , Tomohiro Ebihara , Kenichi Aizawa , Kei Murayama , Akira Ohtake , Takanori Yamagata. Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease. Mol Genet Metab Rep. 2023 Jan 3;34: 100951.doi: 10.1016/j.ymgmr.2022.100951. eCollection 2023 Mar. PMID: 36632326: PMCID: 9826971

9. Ayane Ohyama-Tamagake, Kimihiko Kaneko, Ryo Itami, Masatsugu Nakano, Yasuhiro Namioka, Rumiko Izumi, Haruka Sato, Hideaki Suzuki, Atsuhito Takeda, Yasushi Okazaki, Yukiko Yatsuka, Takaaki Abe, Kei Murayama, Naoto Sugeno, Tatsuro Misu, Masashi Aoki. Adult-onset Leigh Syndrome with a m.9176 T>C Mutation Manifested as Reversible Cerebral Vasoconstriction Syndrome.Intern Med..2022 Dec 21. doi: 10.2169/internalmedicine.0773-22. Online ahead of print. PMID: 36543208. 34987801

10. Yip CW, Hon CC, Yasuzawa K, Sivaraman DM, Ramilowski JA, Shibayama Y, Agrawal S, Prabhu AV, Parr C, Severin J, Lan YJ, Dostie J, Petri A, Nishiyori-Sueki H, Tagami M, Itoh M, López-Redondo F, Kouno T, Chang JC, Luginbühl J, Kato M, Murata M, Yip WH, Shu X, Abugessaisa I, Hasegawa A, Suzuki H, Kauppinen S, Yagi K, Okazaki Y, Kasukawa T, de Hoon M, Carninci P, Shin JW. Antisense-oligonucleotide-mediated perturbation of long non-coding RNA reveals functional features in stem cells and across cell types. Cell Rep. 2022 Dec 27;41(13):111893. doi: 10.1016/j.celrep.2022.111893.

11. Kobayashi M, Suzuki Y, Nodera M, Matsunaga A, Kohda M, Okazaki Y, Murayama K,Yamagata T, Osaka H. A Japanese patient with neonatal biotin-responsive basal
ganglia disease. Hum Genome Var. 2022 Sep 29;9(1):35. doi:10.1038/s41439-022-00210-z. PMID: 36175418; PMCID: PMC9522647.　

12. Shimozawa H, Sato T, Osaka H, Takeda A, Miyauchi A, Omika N, Yada Y, Kono Y,
Murayama K, Okazaki Y, Kishita Y, Yamagata T. A Case of Infantile Mitochondrial
Cardiomyopathy Treated with a Combination of Low-Dose Propranolol and
Cibenzoline for Left Ventricular Outflow Tract Stenosis. Int Heart J. 2022 Sep30;63(5):970-977. doi: 10.1536/ihj.21-859. Epub 2022 Sep 14. PMID: 36104228.　　

13. Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M,
Ichimoto K, Naruke Y, Akiyama N, Lim SC, Yatsuka Y, Nitta KR, Kishita Y, Fushimi
T, Okazaki A, Ohtake A, Okazaki Y, Murayama K. Severe spinal cord hypoplasia due
to a novel ATAD3A compound heterozygous deletion. Mol Genet Metab Rep.2022 Aug 24; 33:100912. doi: 10.1016/j.ymgmr.2022.100912. PMID: 36061954; PMCID:PMC9428837.　

14. Imai-Okazaki A, Nitta KR, Yatsuka Y, Sugiura A, Arao M, Shimura M, Ebihara T,
Onuki T, Ichimoto K, Ohtake A, Murayama K, Okazaki Y. Impact of measuring
heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level
in individuals with mitochondrial disease. J Inherit Metab Dis. 2022 Aug 13.doi: 10.1002/jimd.12547. Epub ahead of print. PMID: 36053827.　

15. Yoshida N, Ishikawa H, Eguchi H, Okazaki Y, Hirose R, Inoue K, Dohi O, Itoh
Y, Mutoh M, Ishiguro S, Ishida H. Promotion Effects of Smoking in Polyp
Development in Monozygotic Twins with Atypical Colorectal Polyposis. Case RepGastroenterol. 2022 Jun 13;16(2):375-381. doi: 10.1159/000524944. PMID:
35949244; PMCID: PMC9247489.

16. Kawata-Shimamura Y, Eguchi H, Kawabata-Iwakawa R, Nakahira M, Okazaki Y, Yoda,T, Grénman R, Sugasawa M, Nishiyama M. Biomarker discovery for practice of precision medicine in hypopharyngeal cancer: a theranostic study on response
prediction of the key therapeutic agents. BMC Cancer. 2022 Jul 16;22(1):779.doi: 10.1186/s12885-022-09853-1. PMID: 35841085; PMCID: PMC9288037.
　
17. Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo
S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J,
Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C,
Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A,
Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM,
Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D,
Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB,
Murayama K, Meitinger T, Gagneur J, Prokisch H. Clinical implementation of RNA
sequencing for Mendelian disease diagnostics. Genome Med. 2022 Apr 5;14(1):38.doi: 10.1186/s13073-022-01019-9. PMID: 35379322; PMCID: PMC8981716.　

18. Mori Y, Amano K, Chikatani K, Ito T, Suzuki O, Kamae N, Hatano S, Chika N,
Yamamoto A, Ishibashi K, Eguchi H, Okazaki Y, Iwama T, Ishida H. Recent trends
in the morbidity and mortality in patients with familial adenomatous polyposis:
a retrospective single institutional study in Japan. Int J Clin Oncol. 2022 Jun;27(6):1034-1042. doi: 10.1007/s10147-022-02146-4. Epub 2022 Mar 11. PMID:35274183.　

19. Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Eguchi H, Okazaki Y, Akagi K,
Tamaru JI, Arai T, Yamaguchi T, Ishida H. Corrigendum to: Prevalence and
clinicopathological/molecular characteristics of mismatch repair protein-
deficient tumours among surgically treated patients with prostate cancer in a
Japanese hospital-based population.Jpn J Clin Oncol. 2022 Apr 6;52(4):402. doi:10.1093/jjco/hyac021. Erratum for: Jpn J Clin Oncol. 2021 Apr 1;51(4):639-645.PMID: 35137153. 36053827
　
20. Tong D, Tanaka M, Eguchi H, Okazaki Y, Muramatsu M, Arai T.
COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study.Mol Clin Oncol. 2022 Feb;16(2):32. doi: 10.3892/mco.2021.2465. Epub 2021 Dec 14.
PMID: 34987801 Free PMC article.

[2021]
21. Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K. Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Mitochondrion. 2022 Mar;63:1-8. doi: 10.1016/j.mito.2021.12.005. Epub 2021 Dec 18.
PMID: 34933128 Free article.

22. Hashimoto M, Saito Y, Nakagawa R, Ogahara I, Takagi S, Takata S, Amitani H, Endo M, Yuki H, Ramilowski JA, Severin J, Manabe RI, Watanabe T, Ozaki K, Kaneko A, Kajita H, Fujiki S, Sato K, Honma T, Uchida N, Fukami T, Okazaki Y, Ohara O, Shultz LD, Yamada M, Taniguchi S, Vyas P, de Hoon M, Momozawa Y, Ishikawa F.Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive acute myeloid leukemia.Nat Cancer. 2021 Mar;2(3):340-356. doi: 10.1038/s43018-021-00177-w. Epub 2021 Mar 18.
PMID: 35121960

23. Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K. Valine metabolites analysis in ECHS1 deficiency. Mol Genet Metab Rep 2021;29:100809.PMID: 34667719, PMCID: PMC8507190
(doi: 10.1016/j.ymgmr.2021.100809.)

24. Ozaki K, Irioka T, Uchihara T, Yamada A, Nakamura A, Majima T, Igarashi S, Shintaku H, Yakeishi M, Tsuura Y, Okazaki Y, Ishikawa K, Yokota T. Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study.
Acta Neuropathol Commun 2021;9(1):172.PMID: 34689836, PMCID: PMC8543940
(doi: 10.1186/s40478-021-01272-w.)

25. Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta K.R, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K. Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Arch Dis Child Fetal Neonatal Ed 　2022 May;107(3):329-334. doi:10.1136/archdischild-2021-321633. Epub 2021 Oct 7.　PMID: 34625524

26. Keisuke Sawada, Shuji Momose, Ryutaro Kawano, Masakazu Kohda, Tarou Irié, Kenji Mishima, Takahiro Kaneko, Norio Horie, Yasushi Okazaki, Morihiro Higashi, and Jun-ichi Tamaru [Paper #MP-21-0371-A-R]. Immunohistochemical staining patterns of p53 predict the mutational status of TP53 in oral epithelial dysplasia: implication for the diagnostic utility.
Mod Pathol 2021.PMID: 34404905

27. Kimura-Nakajima C, Sakaguchi K, Hatano Y, Matsumoto M, Okazaki Y, Tanaka K, Yamane T, Oishi Y, Kamimoto K, Iwatsuki K. Ngn3-Positive Cells Arise from Pancreatic Duct Cells. Int J Mol Sci 2021;22(16):8548.
PMID: 34445257, PMCID: PMC8395223
(doi: 10.3390/ijms22168548.)

28. Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta K.R, Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y. Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Hum Mutat 2021;42(11):1422-1428.
PMID: 34405929
(doi: 10.1002/humu.24274. Online ahead of print.)

29. Shintaro Kinoshita, Miki Ando, Jun Ando, Midori Ishii, Yoshiki Furukawa, Osamu Tomita, Yoko Azusawa, Shuichi Shirane, Yoshihito Kishita, Yukiko Yatsuka, Hidetaka Eguchi, Yasushi Okazaki, Norio Komatsu. Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome. Heliyon 2021;7(8):e07804.
PMID: 34458631, PMCID: PMC8379496
(doi: 10.1016/j.heliyon.2021.e07804. eCollection 2021 Aug.)

30. Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta K.R, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. Int J Cardiol 2021 341:48-55.
PMID: 34298071
(doi: 10.1016/j.ijcard.2021.06.042.)

31. Inaba A, Arinaga A, Tanaka K, Endo T, Hayatsu N, Okazaki Y, Yamane T, Oishi Y, Imai H, Iwatsuki K. Interleukin-4 Promotes Tuft Cell Differentiation and Acetylcholine Production in Intestinal Organoids of Non-Human Primate. Int J Mol Sci 2021;22(15)7921.
PMID: 34360687, PMCID: PMC8348364, DOI: 10.3390/ijms22157921
(2021 Jul 24;22(15):7921. doi: 10.3390/ijms22157921)

32. Watanabe A, Tanaka A, Koga C, Matsumoto M, Okazaki Y, Kin T, Miyajima A. CD82 is a marker to isolate beta cell precursors from human iPS cells and plays a role for the maturation of beta cells. Sci Rep 2021;11(1):9530.
PMID: 33953224, PMCID: PMC8100138.
(2021 May 5;11(11):9530. doi: doi: 10.1038/s41598-021-88978-y)

33. Aiba K, Nakamura Y, Sugimoto M, Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S. A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction. Eur J Med Genet 2021;64(8):104251.
PMID: 34051360, DOI: 10.1016/j.ejmg.2021.104251
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34. Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan. Sci Rep 2021;11(1):3531.
PMID: 33574353, PMCID: PMC7878886, DOI: 10.1038/s41598-021-81015-y
(2021 Feb 11;11(1):3531. doi: 10.1038/s41598-021-81015-y.)

Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan. Sci Rep 2021;11(1):22682.
PMID: 34785734, PMCID: PMC8595368
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*12.のAuthour’s correctionなので、業績としては12.のオリジナルを載せる。

35. Frazier A.E, Compton A.G, Kishita Y, Hock D.H, Welch A.E, Amarasekera S.S.C, Rius R, Formosa L.E, Imai-Okazaki A, Francis D, Wang M, Lake N.J, Tregoning S, Jabbari J.S, Lucattini A, Nitta K.R, Ohtake A, Murayama K, Amor D.J, McGillivray G, Wong F.Y, van der Knaap M.S, Jeroen Vermeulen R, Wiltshire E.J, Fletcher J.M, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann M.L, Arbuckle S, Rodriguez M, Taft R.J, Sadedin S, Cowley M.J, Minoche A.E, Calvo S.E, Mootha V.K, Ryan M.T, Okazaki Y, Stroud D.A, Simons C, Christodoulou J, Thorburn D.R. Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. Med (N Y) 2021;2(1):49-73.
PMID: 33575671, PMCID: PMC7875323, DOI: 10.1016/j.medj.2020.06.004
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36. Imai-Okazaki A, Yagi N, Nitta K.R, Murayama K, Ohtake A, Okazaki Y. Clinical heterogeneity in patients with m.4412G>A MT-TM mutation and different heteroplasmy levels. Mitochondrion 2021;59:214-215.
PMID: 34089906, DOI: 10.1016/j.mito.2021.06.001
(2021 Jun 3;59:214-215. doi: 10.1016/j.mito.2021.06.001. Online ahead of print.)

37. Ito T, Suzuki O, Kamae N, Tamaru J.I, Arai T, Yamaguchi T, Akagi K, Eguchi H, Okazaki Y, Mochiki E, Ishida H. Comprehensive analysis of DNA mismatch repair-deficient gastric cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(6):886-894.
PMID: 33728435, DOI: 10.1093/jjco/hyab026
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38. Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Eguchi H, Okazaki Y, Akagi K, Tamaru J.I, Arai T, Yamaguchi T, Ishida H. Prevalence and clinicopathological/molecular characteristics of mismatch repair protein-deficient tumours among surgically treated patients with prostate cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(4):639-645.
PMID: 33244609, DOI: 10.1093/jjco/hyaa207
(2021 Apr 1;51(4):639-645. doi: 10.1093/jjco/hyaa207.)

39. Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Kamae N, Eguchi H, Okazaki Y, Yamamoto G, Akagi K, Tamaru J.I, Yamaguchi T, Arai T, Ishida H. Identification of Lynch syndrome-associated DNA mismatch repair-deficient bladder cancer in a Japanese hospital-based population. Int J Clin Oncol 2021;26(8):1524-1532.
PMID: 34213665, DOI: 10.1007/s10147-021-01922-y
(2021 Jul 2. doi: 10.1007/s10147-021-01922-y. Online ahead of print.)

40. Kishita Y, Ishikawa K, Nakada K, Hayashi J.I, Fushimi T, Shimura M, Kohda M, Ohtake A, Murayama K, Okazaki Y. A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome. Sci Rep 2021;11(1):11123.
PMID: 34045482, PMCID: PMC8160132, DOI: 10.1038/s41598-021-90196-5
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41. Natsume S, Yamaguchi T, Eguchi H, Okazaki Y, Horiguchi S.I, Ishida H. Germline deletion of chromosome 2p16-21 associated with Lynch syndrome. Hum Genome Var 2021;8(1):19.
PMID: 34012011, PMCID: PMC8134480, DOI: 10.1038/s41439-021-00152-y
(2021 May 19;8(1):19. doi: 10.1038/s41439-021-00152-y.)

42. Takao M, Yamaguchi T, Eguchi H, Yamada T, Okazaki Y, Tomita N, Nomizu T, Momma T, Takayama T, Tanakaya K, Akagi K, Ishida H. APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients. Int J Clin Oncol 2021;26(9)1661-1670.
PMID: 34106356, DOI: 10.1007/s10147-021-01946-4
(Jun 9. doi: 10.1007/s10147-021-01946-4. Online ahead of print.)

43. Watanabe A, Tanaka A, Koga C, Matsumoto M, Okazaki Y, Kin T, Miyajima A. CD82 is a marker to isolate beta cell precursors from human iPS cells and plays a role for the maturation of beta cells. Sci Rep 2021;11(1):9530.
PMID: 33953224, PMCID: PMC8100138, DOI: 10.1038/s41598-021-88978-y
(2021 May 5;11(1):9530. doi: 10.1038/s41598-021-88978-y.)

44. Yamamoto A, Yamaguchi T, Suzuki O, Ito T, Chika N, Kamae N, Tamaru J.I, Nagai T, Seki H, Arai T, Tachikawa T, Akagi K, Eguchi H, Okazaki Y, Ishida H. Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(1):60-69.
PMID: 32844218, DOI: 10.1093/jjco/hyaa142
(2021 Jan 1;51(1):60-69. doi: 10.1093/jjco/hyaa142.)

45. Ito T, Suzuki O, Kamae N, Tamaru J.I, Arai T, Yamaguchi T, Akagi K, Eguchi H, Okazaki Y, Mochiki E, Ishida H. Comprehensive analysis of DNA mismatch repair-deficient gastric cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2021;51(6):886-894.
PMID: 33728435, DOI: 10.1093/jjco/hyab026
(2021 May 28;51(6):886-894. doi: 10.1093/jjco/hyab026.)

46. Sato Y, Aoki R, Nagano N, Takano C, Seimiya A, Kato R, Ogawa E, Ishige M, Okazaki Y, Murayama K, Morioka I. Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease. Sci Prog 2021;104(2):368504211011873.
PMID: 33890810, DOI: 10.1177/00368504211011873
(Apr-Jun 2021;104(2):368504211011873. doi: 10.1177/00368504211011873.)

[2020]
47. Borna N.N, Kishita Y, Abe J, Furukawa T, Ogawa-Tominaga M, Fushimi T, Imai-Okazaki A, Takeda A, Ohtake A, Murayama K, Okazaki Y. NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness. Brain 2020;143(7):e54.
PMID: 32462209, DOI: 10.1093/brain/awaa130
(2020 Jul 1;143(7):e54. doi: 10.1093/brain/awaa130.)

48. Borna N.N, Kishita Y, Sakai N, Hamada Y, Kamagata K, Kohda M, Ohtake A, Murayama K, Okazaki Y. Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL. Genes (Basel) 2020;11(11).
PMID: 33182419, PMCID: PMC7697158, DOI: 10.3390/genes11111325
(2020 Nov 9;11(11):1325. doi: 10.3390/genes11111325.)

49. Chikatani K, Chika N, Suzuki O, Sakimoto T, Ishibashi K, Eguchi H, Okazaki Y, Ishida H. A Model for Predicting DNA Mismatch Repair-deficient Colorectal Cancer. Anticancer Res 2020;40(8):4379-4385.
PMID: 32727766, DOI: 10.21873/anticanres.14441
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50. Chikatani K, Chika N, Suzuki O, Sakimoto T, Ishibashi K, Eguchi H, Okazaki Y, Ishida H. Clinically applicable cases of anti-programmed cell death protein 1 immunotherapy for colorectal cancer patients. Surg Today 2020;50(12):1694-1698.
PMID: 32253514, DOI: 10.1007/s00595-020-01998-5
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51. Ito T, Ishida H, Suzuki O, Chika N, Amano K, Ishibashi K, Kamae N, Tada Y, Akagi K, Eguchi H, Okazaki Y. Prevalence and Molecular Characterization of Defective DNA Mismatch Repair in Small-bowel Carcinoma in a Japanese Hospital-based Population. J Anus Rectum Colon 2020;4(4):165-173.
PMID: 33134597, PMCID: PMC7595680, DOI: 10.23922/jarc.2020-026
(2020 Oct 29;4(4):165-173. doi: 10.23922/jarc.2020-026.)

52. Ito T, Kono K, Eguchi H, Okazaki Y, Yamamoto G, Tachikawa T, Akagi K, Okada Y, Kawakami S, Morozumi M, Tamaru J.I, Ishida H. Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population. Jpn J Clin Oncol 2020;50(1):80-88.
PMID: 31665498, DOI: 10.1093/jjco/hyz140
(2020 Jan 24;50(1):80-88. doi: 10.1093/jjco/hyz140.)

53. Ito T, Nomizu T, Eguchi H, Kamae N, Dechamethakun S, Akama Y, Endo G, Sugano K, Yoshida T, Okazaki Y, Ishida H. The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan. Jpn J Clin Oncol 2020;50(9):1080-1083.
PMID: 32548621, DOI: 10.1093/jjco/hyaa090
(2020 Sep 5;50(9):1080-1083. doi: 10.1093/jjco/hyaa090.)

54. Kishita Y, Shimura M, Kohda M, Akita M, Imai-Okazaki A, Yatsuka Y, Nakajima Y, Ito T, Ohtake A, Murayama K, Okazaki Y. A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. Mol Genet Genomic Med 2020;8(10):e1427.
PMID: 32749073, PMCID: PMC7549589, DOI: 10.1002/mgg3.1427
(2020 Oct;8(10):e1427. doi: 10.1002/mgg3.1427. Epub 2020 Aug 4.)

55. Maeoka Y, Doi T, Aizawa M, Miyasako K, Hirashio S, Masuda Y, Kishita Y, Okazaki Y, Murayama K, Imasawa T, Hara S, Masaki T. A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes. BMC Nephrol 2020;21(1):376.
PMID: 32859164, PMCID: PMC7456044, DOI: 10.1186/s12882-020-02040-z
(2020 Aug 28;21(1):376. doi: 10.1186/s12882-020-02040-z.)

56. Miyahara Y, Ishida H, Kawabe K, Eto H, Kasai T, Ito T, Kaneko K, Arai M, Kamae N, Momose S, Eguchi H, Okazaki Y. A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome. Jpn J Clin Oncol 2020;50(7):826-829.
PMID: 32378721, PMCID: PMC7345204, DOI: 10.1093/jjco/hyaa059
(2020 Jul 9;50(7):826-829. doi: 10.1093/jjco/hyaa059.)

57. Ogawa E, Fushimi T, Ogawa-Tominaga M, Shimura M, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Kishita Y, Kohda M, Imai-Okazaki A, Okazaki Y, Morioka I, Ohtake A, Murayama K. Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis. J Inherit Metab Dis 2020;43(4):819-826.
PMID: 31967322, PMCID: PMC7383885, DOI: 10.1002/jimd.12218
(2020 Jul;43(4):819-826. doi: 10.1002/jimd.12218. Epub 2020 Feb 10.)

58. Ohnuma K, Kishita Y, Nyuzuki H, Kohda M, Ohtsu Y, Takeo S, Asano T, Sato-Miyata Y, Ohtake A, Murayama K, Okazaki Y, Aigaki T. Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila. FEBS Lett 2020.
PMID: 32294252, DOI: 10.1002/1873-3468.13792
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59. Shimura M, Kuranobu N, Ogawa-Tominaga M, Akiyama N, Sugiyama Y, Ebihara T, Fushimi T, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Umetsu S, Inui A, Fujisawa T, Tanikawa K, Ito R, Fukuda A, Murakami J, Kaji S, Kasahara M, Shiraki K, Ohtake A, Okazaki Y, Murayama K. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation. Orphanet J Rare Dis 2020;15(1):169.
PMID: 32703289, PMCID: PMC7379809, DOI: 10.1186/s13023-020-01441-5
(2020 Jul 24;15(1):169. doi: 10.1186/s13023-020-01441-5.)

60. Takada R, Tozawa T, Kondo H, Kizaki Z, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Chiyonobu T. Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185T>C variant in the MT-ATP6 gene: Expanding the clinical spectrum. Brain Dev 2020;42(1):69-72.
PMID: 31500933, DOI: 10.1016/j.braindev.2019.08.006
(2020 Jan;42(1):69-72. doi: 10.1016/j.braindev.2019.08.006.)

61. Takeda A, Murayama K, Okazaki Y, Imai-Okazaki A, Ohtake A, Takakuwa E, Yamazawa H, Izumi G, Abe J, Nagai A, Taniguchi K, Sasaki D, Tsujioka T, Basgen J.M. Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy. J Clin Pathol 2020.
PMID: 32817174, DOI: 10.1136/jclinpath-2020-206801
(2020 Aug 17;jclinpath-2020-206801. doi: 10.1136/jclinpath-2020-206801.)

62. Tanaka A, Watanabe A, Nakano Y, Matsumoto M, Okazaki Y, Miyajima A. Reversible expansion of pancreatic islet progenitors derived from human induced pluripotent stem cells. Genes Cells 2020;25(5):302-311.
PMID: 32065490, DOI: 10.1111/gtc.12759
(2020 May;25(5):302-311. doi: 10.1111/gtc.12759. Epub 2020 Mar 6.)

63. Yasuoka Y, Matsumoto M, Yagi K, Okazaki Y. Evolutionary History of GLIS Genes Illuminates Their Roles in Cell Reprograming and Ciliogenesis. Mol Biol Evol 2020;37(1):100-109.
PMID: 31504761, PMCID: PMC6984359, DOI: 10.1093/molbev/msz205
(2020 Jan 1;37(1):100-109. doi: 10.1093/molbev/msz205.)

64. Yatsuka Y, Kishita Y, Formosa L.E, Shimura M, Nozaki F, Fujii T, Nitta K.R, Ohtake A, Murayama K, Ryan M.T, Okazaki Y. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clin Genet 2020;98(2):155-165.
PMID: 32385911, DOI: 10.1111/cge.13773
(2020 Aug;98(2):155-165. doi: 10.1111/cge.13773.)

65. Ramilowski J.A, Yip C.W, Agrawal S, Chang J.C, Ciani Y, Kulakovskiy I.V, Mendez M, Ooi J.L.C, Ouyang J.F, Parkinson N, Petri A, Roos L., Severin J, Yasuzawa K, Abugessaisa I, Akalin A, Antonov I.V, Arner E, Bonetti A, Bono H, Borsari B, Brombacher F, Cameron C.J, Cannistraci C.V, Cardenas R, Cardon M, Chang H, Dostie J, Ducoli L, Favorov A, Fort A, Garrido D, Gil N, Gimenez J, Guler R, Handoko L, Harshbarger J, Hasegawa A, Hasegawa Y, Hashimoto K, Hayatsu N, Heutink P, Hirose T, Imada E.L, Itoh M, Kaczkowski B, Kanhere A, Kawabata E, Kawaji H, Kawashima T, Kelly S.T, Kojima M, Kondo N, Koseki H, Kouno T, Kratz A, Kurowska-Stolarska M, Kwon A.T.J, Leek J, Lennartsson A, Lizio M, Lopez-Redondo F, Luginbuhl J, Maeda S, Makeev V.J, Marchionni L, Medvedeva Y.A, Minoda A, Muller F, Munoz-Aguirre M, Murata M, Nishiyori H, Nitta K.R, Noguchi S, Noro Y, Nurtdinov R, Okazaki Y, Orlando V, Paquette D, Parr C.J.C, Rackham O.J.L, Rizzu P, Sanchez Martinez D.F, Sandelin A, Sanjana P, Semple C.A.M, Shibayama Y, Sivaraman D.M, Suzuki T, Szumowski S.C, Tagami M, Taylor M.S, Terao C, Thodberg M, Thongjuea S, Tripathi V, Ulitsky I, Verardo R, Vorontsov I.E, Yamamoto C, Young R.S, Baillie J.K, Forrest A.R.R, Guigo R, Hoffman M.M, Hon C.C, Kasukawa T, Kauppinen S, Kere J, Lenhard B, Schneider C, Suzuki H, Yagi K, de Hoon M.J.L, Shin J.W, Carninci P. Functional annotation of human long noncoding RNAs via molecular phenotyping. Genome Res 2020;30(7):1060-1072.
PMID: 32718982, PMCID: PMC7397864, DOI: 10.1101/gr.254219.119
(2020 Jul;30(7):1060-1072. doi: 10.1101/gr.254219.119. Epub 2020 Jul 27.)

66. Yamashita-Sugahara Y, Tokuzawa Y, Nakachi Y, Kanesaki-Yatsuka Y, Matsumoto M, Mizuno Y, Okazaki Y. Correction: Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor gamma target gene that regulates adipogenesis through ceramide synthesis. J Biol Chem 2020;295(15):5176.
PMID: 32277067, PMCID: PMC7152779, DOI: 10.1074/jbc.AAC120.013475
(2020 Apr 10;295(15):5176. doi: 10.1074/jbc.AAC120.013475.)

[2019]
67. Borna N.N, Kishita Y, Kohda M, Lim S.C, Shimura M, Wu Y, Mogushi K, Yatsuka Y, Harashima H, Hisatomi Y, Fushimi T, Ichimoto K, Murayama K, Ohtake A, Okazaki Y. Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. Neurogenetics 2019;20(1):9-25.
PMID: 30607703, DOI: 10.1007/s10048-018-0561-9
(2019 Mar;20(1):9-25. doi: 10.1007/s10048-018-0561-9. Epub 2019 Jan 3.)

68. Hirono K, Ichida F, Nishio N, Ogawa-Tominaga M, Fushimi T, Feichtinger R.G, Mayr J.A, Kohda M, Kishita Y, Okazaki Y, Ohtake A, Murayama K. 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. Clin Case Rep 2019;7(3):553-557.
PMID: 30899493, PMCID: PMC6406168, DOI: 10.1002/ccr3.2050
(2019 Feb 7;7(3):553-557. doi: 10.1002/ccr3.2050. eCollection 2019 Mar.)

69. Hisatomi Y, Murayama K, Ohtake A, Okazaki Y. Reply to the "Letter to the Editor" from Dr. J Finsterer and colleagues. Neurogenetics 2019;20(1):55-56.
PMID: 30788637, DOI: 10.1007/s10048-019-00567-4
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70. Imai-Okazaki A, Kishita Y, Kohda M, Mizuno Y, Fushimi T, Matsunaga A, Yatsuka Y, Hirata T, Harashima H, Takeda A, Nakaya A, Sakata Y, Kogaki S, Ohtake A, Murayama K., Okazaki Y. Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. Int J Cardiol 2019;279:115-121.
PMID: 30642647, DOI: 10.1016/j.ijcard.2019.01.017
(2019 Mar 15;279:115-121. doi: 10.1016/j.ijcard.2019.01.017. Epub 2019 Jan 5.)

71. Ito T, Yamaguchi T, Wakatsuki T, Suzuki T, Eguchi H, Okazaki Y, Yamamoto G, Tachikawa T, Kawakami S, Sasaki A, Akagi K, Ishida H. The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome. Jpn J Clin Oncol 2019;49(5):477-480.
PMID: 30882153, DOI: 10.1093/jjco/hyz031
(2019 May 1;49(5):477-480. doi: 10.1093/jjco/hyz031.)

72. Kadoya T, Sakakibara A, Kitayama K, Yamada Y, Higuchi S, Kawakita R, Kawasaki Y, Fujino M, Murakami Y, Shimura M, Murayama K, Ohtake A, Okazaki Y, Koga Y, Yorifuji T. Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10. J Pediatr Endocrinol Metab 2019;32(10):1181-1185.
PMID: 31473688, DOI: 10.1515/jpem-2019-0205
(2019 Oct 25;32(10):1181-1185. doi: 10.1515/jpem-2019-0205.)

73. Kori A, Hori I, Tanaka T, Aoyama K, Ito K, Hattori A, Ban K, Okazaki Y, Murayama K, Saitoh S. Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C. Brain Dev 2019;41(9):803-807.
PMID: 3117808, DOI: 10.1016/j.braindev.2019.05.006
(2019 Oct;41(9):803-807. doi: 10.1016/j.braindev.2019.05.006. Epub 2019 Jun 6.)

74. Kumamoto K, Nakachi Y, Mizuno Y, Yokoyama M, Ishibashi K, Kosugi C, Koda K, Kobayashi M, Tanakaya K, Matsunami T, Eguchi H, Okazaki Y, Ishida H. Expressions of 10 genes as candidate predictors of recurrence in stage III colon cancer patients receiving adjuvant oxaliplatin-based chemotherapy. Oncol Lett 2019;18(2):1388-1394.
PMID: 31423202, PMCID: PMC6607086, DOI: 10.3892/ol.2019.10437
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75. Mitsui Y, Miyoshi A, Okamoto K, Muguruma N, Miyoshi J, Tanaka K, Kitamura S, Miyamoto H, Sato Y, Bando Y, Shunto J, Eguchi H, Okazaki Y, Ishida H, Takayama T. Different phenotypes of gastric fundic gland polyposis and cancer in patients with familial adenomatous polyposis depending on Helicobacter pylori infection. Gastric Cancer 2019;22(6):1294-1300.
PMID: 31529234, DOI: 10.1007/s10120-019-01005-y
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76. Moutaoufik M.T, Malty R, Amin S, Zhang Q, Phanse S, Gagarinova A, Zilocchi M, Hoell L, Minic Z, Gagarinova M, Aoki H, Stockwell J, Jessulat M, Goebels F, Broderick K, Scott N.E, Vlasblom J, Musso G, Prasad B, Lamantea E, Garavaglia B, Rajput A, Murayama K, Okazaki Y, Foster L.J, Bader G.D, Cayabyab F.S, Babu M. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. iScience 2019;19:1114-1132.
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77. Murayama K, Shimura M, Liu Z, Okazaki Y, Ohtake A. Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases. J Hum Genet 2019;64(2):113-125.
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78. Ochiai N, Nakachi Y, Yokoo T, Ichihara T, Eriksson T, Yonemoto Y, Kato T, Ogata H, Fujimoto N, Kobayashi Y, Udagawa N, Kaku S, Ueki T, Okazaki Y, Takahashi N, Suda T. Murine osteoclasts secrete serine protease HtrA1 capable of degrading osteoprotegerin in the bone microenvironment. Commun Biol 2019;2:86.
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79. Shimura M, Nozawa N, Ogawa-Tominaga M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Ishii T, Takahashi K, Tanaka T, Nakajima M, Okazaki Y, Ohtake A, Murayama K. Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases. Sci Rep 2019;9(1):10549.
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80. Takenouchi T, Wei F.Y, Suzuki H, Uehara T, Takahashi T, Okazaki Y, Kosaki K, Tomizawa K. Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i(6) A37 and ms(2) i(6) A37 modifications in tRNAs from blood and urine samples. Am J Med Genet A 2019;179(8):1609-1614.
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81. Tanakaya K, Kumamoto K, Tada Y, Eguchi H, Ishibashi K, Idani H, Tachikawa T, Akagi K, Okazaki Y, Ishida H. A germline MBD4 mutation was identified in a patient with colorectal oligopolyposis and earlyonset cancer: A case report. Oncol Rep 2019;42(3):1133-1140.
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82. Yao Y, Nishimura M, Murayama K, Kuranobu N, Tojo S, Beppu M, Ishige T, Itoga S, Tsuchida S, Mori M, Takayanagi M, Yokoyama M, Yamagata K, Kishita Y, Okazaki Y, Nomura F, Matsushita K, Tanaka T. A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing. Sci Rep 2019;9(1):17411.
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83. Hashimoto K, Kouno T, Ikawa T, Hayatsu N, Miyajima Y, Yabukami H, Terooatea T, Sasaki T, Suzuki T, Valentine M, Pascarella G, Okazaki Y, Suzuki H, Shin J.W, Minoda A, Taniuchi I, Okano H, Arai Y, Hirose N, Carninci P. Single-cell transcriptomics reveals expansion of cytotoxic CD4 T cells in supercentenarians. Proc Natl Acad Sci U S A 2019;116(48):24242-24251.
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84. Martin C.A, Sarlos K, Logan C.V, Thakur R.S, Parry D.A, Bizard A.H, Leitch A, Cleal L, Ali N.S, Al-Owain M.A, Allen W, Altmuller J, Aza-Carmona M, Barakat B.A.Y, Barraza-Garcia J, Begtrup A, Bogliolo M, Cho M.T, Cruz-Rojo J, Dhahrabi H.A.M, Elcioglu N.H, Gosgene, Gorman G.S, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah A.J, Nurnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez M.J, Revah-Politi A, Shimura M, Stevens P, Taylor R.W, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya F.S, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath K.E, Hickson I.D, Jackson A.P. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am J Hum Genet 2018;103(2):221-231.
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85. Nakajima C, Kamimoto K, Miyajima K, Matsumoto M, Okazaki Y, Kobayashi-Hattori K, Shimizu M, Yamane T, Oishi Y, Iwatsuki K. A Method for Identifying Mouse Pancreatic Ducts. Tissue Eng Part C Methods 2018;24(8):480-485.
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86. Mitsui Y, Yokoyama R, Fujimoto S, Kagemoto K, Kitamura S, Okamoto K, Muguruma N, Bando Y, Eguchi H, Okazaki Y, Ishida H, Takayama T. First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region. Gastric Cancer 2018;21(6):1058-1063.
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87. Kuwabara K, Suzuki O, Chika N, Kumamoto K, Minabe T, Fukuda T, Arai E, Tamaru J.I, Akagi K, Eguchi H, Okazaki Y, Ishida H. Prevalence and molecular characteristics of DNA mismatch repair protein-deficient sebaceous neoplasms and keratoacanthomas in a Japanese hospital-based population. Jpn J Clin Oncol 2018;48(6):514-521.
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88. 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 2018;40(6):498-502.
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89. Ng Y.S, Lax N.Z, Maddison P, Alston C.L, Blakely E.L, Hepplewhite P.D, Riordan G, Meldau S, Chinnery P.F, Pierre G, Chronopoulou E, Du A, Hughes I, Morris A.A, Kamakari S, Chrousos G, Rodenburg R.J, Saris C.G.J, Feeney C, Hardy S.A, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna M.G, Ohtake A, Schaefer A.M, Champion M.P, Turnbull D.M, Taylor R.W, Pitceathly R.D.S, McFarland R, Gorman G.S. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. EBioMedicine 2018;30:86-93.
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90. Takao M, Yamaguchi T, Eguchi H, Tada Y, Kohda M, Koizumi K, Horiguchi S.I, Okazaki Y, Ishida H. Characteristics of MUTYH variants in Japanese colorectal polyposis patients. Int J Clin Oncol 2018;23(3):497-503.
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91. Tajima Y, Eguchi H, Chika N, Nagai T, Dechamethakun S, Kumamoto K, Tachikawa T, Akagi K, Tamaru J.I, Seki H, Okazaki Y, Ishida H. Prevalence and molecular characteristics of defective mismatch repair epithelial ovarian cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2018;48(8):728-735.
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92. Hirasaki M, Ueda A, Asaka M.N, 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 Methyl-CpG-Binding Domain Protein 3 Element for Preserving Lineage Commitment Potential of Embryonic Stem Cells. Stem Cells 2018;36(9):1355-1367.
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93. Asano K, Suzuki T, Saito A, Wei F.Y, Ikeuchi Y, Numata T, Tanaka R, Yamane Y, Yamamoto T, Goto T, Kishita Y, Murayama K, Ohtake A, Okazaki Y, Tomizawa K, Sakaguchi Y, Suzuki T. Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease. Nucleic Acids Res 2018;46(4):1565-1583.
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94. 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. J Pediatr 2018;193:256-260.
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[2017]
95. Feichtinger R.G, Olahova M, Kishita Y, Garone C, Kremer L.S, Yagi M, Uchiumi T, Jourdain A.A, Thompson K, D'Souza A.R, Kopajtich R, Alston C.L, Koch J, Sperl W, Mastantuono E, Strom T.M, Wortmann S.B, Meitinger T, Pierre G, Chinnery P.F, Chrzanowska-Lightowlers Z.M, Lightowlers R.N, DiMauro S, Calvo S.E, Mootha V.K, Moggio M, Sciacco M, Comi G.P, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr J.A, Taylor R.W, 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 2017;101(4):525-538.
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96. Imai-Okazaki 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 2017;38(12):1796-1800.
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97. Desai R, Frazier A.E, Durigon R, Patel H, Jones A.W, Dalla Rosa I, Lake N.J, Compton A.G, Mountford H.S, Tucker E.J, Mitchell A.L.R, Jackson D, Sesay A, Di Re M, van den Heuvel L.P, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner A.M, Ian Andrews P, Smeitink J, Spelbrink J.N, Heales S.J, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombes A, Holt I.J. Thorburn D.R, Spinazzola A. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain 2017;140(6):1595-1610.
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98. Noguchi S, Arakawa T, Fukuda S, Furuno M, Hasegawa A, Hori F, Ishikawa-Kato S, Kaida K, Kaiho A, Kanamori-Katayama M, Kawashima T, Kojima M, Kubosaki A, Manabe R.I, Murata M, Nagao-Sato S, Nakazato K, Ninomiya N, Nishiyori-Sueki H, Noma S, Saijyo E, Saka A, Sakai M, Simon C, Suzuki N, Tagami M, Watanabe S, Yoshida S, Arner P, Axton R.A, Babina M, Baillie J.K, Barnett T.C, Beckhouse A.G, Blumenthal A, Bodega B, Bonetti A, Briggs J, Brombacher F, Carlisle A.J, Clevers H.C, Davis C.A, Detmar M, Dohi T, Edge A.S.B, Edinger M, Ehrlund A, Ekwall K, Endoh M, Enomoto H, Eslami A, Fagiolini M, Fairbairn L, Farach-Carson M.C, Faulkner G.J, Ferrai C, Fisher M.E, Forrester L.M, Fujita R, Furusawa J.I, Geijtenbeek T.B, Gingeras T, Goldowitz D, Guhl S, Guler R, Gustincich S, Ha T.J, Hamaguchi M, Hara M, Hasegawa Y, Herlyn M, Heutink P, Hitchens K.J, Hume D.A, Ikawa T, Ishizu Y, Kai C, Kawamoto H, Kawamura Y.I, Kempfle J.S, Kenna T.J, Kere J, Khachigian L.M, Kitamura T, Klein S, Klinken S.P, Knox A.J, Kojima S, Koseki H, Koyasu S, Lee W, Lennartsson A, Mackay-Sim A., Mejhert N, Mizuno Y, Morikawa H, Morimoto M, Moro K, Morris K.J, Motohashi H, Mummery C.L, Nakachi Y, Nakahara F, Nakamura T, Nakamura Y, Nozaki T, Ogishima S, Ohkura N, Ohno H, Ohshima M, Okada-Hatakeyama M, Okazaki Y, Orlando V, Ovchinnikov D.A, Passier R, Patrikakis M, Pombo A, Pradhan-Bhatt S, Qin X.Y, Rehli M, Rizzu P, Roy S, Sajantila A, Sakaguchi S, Sato H, Satoh H, Savvi S, Saxena A, Schmidl C, Schneider C, Schulze-Tanzil G.G, Schwegmann A, Sheng G, Shin J.W, Sugiyama D, Sugiyama T, Summers K.M, Takahashi N, Takai J, Tanaka H, Tatsukawa H, Tomoiu A, Toyoda H, van de Wetering M, van den Berg L.M, Verardo R, Vijayan D, Wells C.A, Winteringham L.N, Wolvetang E, Yamaguchi Y, Yamamoto M, Yanagi-Mizuochi C, Yoneda M, Yonekura Y, Zhang P.G, Zucchelli S, Abugessaisa I, Arner E, Harshbarger J, Kondo A, Lassmann T, Lizio M, Sahin S, Sengstag T, Severin J, Shimoji H, Suzuki M, Suzuki H, Kawai J, Kondo N, Itoh M, Daub C.O, Kasukawa T, Kawaji H, Carninci P, Forrest A.R.R, Hayashizaki Y. FANTOM5 CAGE profiles of human and mouse samples. Sci Data 2017;4:170112.
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99. Seki K, Mizuno Y, Sakashita T, Nakano S, Tanno J, Okazaki Y, Muramatsu T, Nishimura S, Senbonmatsu T. Demeanor of rivaroxaban in activated/inactivated FXa. J Pharmacol Sci 2017;133(3):156-161.
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100. Suzuki O, Eguchi H, Chika N, Sakimoto T, Ishibashi K, Kumamoto K, Tamaru J.I, Tachikawa T, Akagi K, Arai T, Okazaki Y, Ishida H. Prevalence and clinicopathologic/molecular characteristics of mismatch repair-deficient colorectal cancer in the under-50-year-old Japanese population. Surg Today 2017;47(9):1135-1146.
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101. Tochigi H, Kajihara T, Mizuno Y, Mizuno Y, Tamaru S, Kamei Y, Okazaki Y, Brosens J.J, Ishihara O. Erratum: Loss of miR-542-3p enhances IGFBP-1 expression in decidualizing human endometrial stromal cells. Sci Rep 2017;7:46591.
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102. 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. J Inherit Metab Dis 2017;40(5):685-693.
PMID: 28429146, PMCID: PMC5579154, DOI: 10.1007/s10545-017-0042-6
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103. Chika N, Eguchi H, Kumamoto K, Suzuki O, Ishibashi K, Tachikawa T, Akagi K, Tamaru J.I, Okazaki Y, Ishida H. Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population. Jpn J Clin Oncol 2017;47(2):108-117.
PMID: 27920101, DOI: 10.1093/jjco/hyw178
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104. Borna N.N, Kishita Y, Ishikawa K, Nakada K, Hayashi J.I, 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 2017;62(5):539-547.
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105. Yamashita-Sugahara Y, Matsumoto M, Ohtaka M, Nishimura K, Nakanishi M, Mitani K, Okazaki Y. An inhibitor of fibroblast growth factor receptor-1 (FGFR1) promotes late-stage terminal differentiation from NGN3+ pancreatic endocrine progenitors. Sci Rep 2016;6:35908.
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106. Kopajtich R, Murayama K, Janecke A.R, Haack T.B, Breuer M, Knisely A.S, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kolker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger R.G, Mayr J.A, Lackner K, Strom T.M, Meitinger T, Muller T, Ohtake A, Hoffmann G.F, Prokisch H, Staufner C. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. Am J Hum Genet 2016;99(2):414-422.PMID: 27426735, PMCID: PMC4974065, DOI: 10.1016/j.ajhg.2016.05.027

107. Zaha K, Matsumoto H, Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, Mizuno Y, Kohda M, Nishino I, Ohtake A, Okazaki Y, Matsumoto N, Nonoyama S. DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. Clin Genet 2016;90(5):472-474.PMID: 27301544, DOI: 10.1111/cge.12805

108. 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. Int J Cardiol 2016;221:446-449.PMID: 27409572, DOI: 10.1016/j.ijcard.2016.06.287

109. 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;61(11):959-963.
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110. Suzuki A, Hirasaki M, Hishida T, Wu J, Okamura D, Ueda A, Nishimoto M, Nakachi Y, Mizuno Y, Okazaki Y, Matsui Y, Izpisua Belmonte J.C, Okuda A. Loss of MAX results in meiotic entry in mouse embryonic and germline stem cells. Nat Commun 2016;7:11056.PMID: 27025988, PMCID: PMC4820925, DOI: 10.1038/ncomms11056

111. 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. Fam Cancer 2016;15(4):553-562.PMID: 26837502, DOI: 10.1007/s10689-016-9872-x

112. 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. Int J Cardiol 2016;207:203-205.PMID: 26803244, DOI: 10.1016/j.ijcard.2016.01.026

113. 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 N.N, 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 Genet 2016;12(1):e1005679.PMID: 26741492, PMCID: PMC4704781, DOI: 10.1371/journal.pgen.1005679

114. 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. Jpn J Clin Oncol 2016;46(2):178-184.PMID: 26613680, DOI: 10.1093/jjco/hyv172

115. Iseki H, Nakachi Y, Hishida T, Yamashita-Sugahara Y, Hirasaki M, Ueda A, Tanimoto Y, Iijima S, Sugiyama F, Yagami K, Takahashi S, Okuda A, Okazaki Y. Combined Overexpression of JARID2, PRDM14, ESRRB, and SALL4A Dramatically Improves Efficiency and Kinetics of Reprogramming to Induced Pluripotent Stem Cells. Stem Cells 2016;34(2):322-333.PMID: 26523946, DOI: 10.1002/stem.2243

「和文原著」
1. 近範泰, 村上哲朗, 構奈央, 鈴木興秀, 母里淑子, 崎元雄彦, 石畝亨,
熊谷洋一, 江口英孝, 石橋敬一郎, 持木彫人, 岡崎康司, 岩間毅夫, 石田秀行
高齢者異時性多発大腸癌の発端者を契機に診断されたLynch 症候群の1 家系
癌と化学療法 47巻13号, 1909-1912 (2020)
出版社: 癌と化学療法社
PMID: 33468869.

2. 山本梓, 母里淑子, 鈴木興秀, 石橋敬一郎, 構奈央, 吉田裕之, 長谷川幸清,
藤原恵一, 江口英孝, 岡崎康司, 赤木究, 石田秀行
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癌と化学療法 47巻13号, 2257-2259 (2020)
出版社: 癌と化学療法社
PMID: 33468926

3. 近範泰, 構奈央, 鈴木興秀, 近谷賢一, 天野邦彦, 母里淑子, 石畝亨, 熊谷洋一,
江口英孝, 石橋敬一郎, 持木彫人, 岡崎康司, 田中屋宏爾, 岩間毅夫, 石田秀行
Attenuated 型家族性大腸腺腫症の1 家系
癌と化学療法 47巻13号, 1905-1908 (2020)
出版社: 癌と化学療法社
PMID: 33468868

4. 岡田慶介, 味原さや香, 武者育麻, 荒尾正人, 内藤朋巳, 井上久美子, 大山昇一, 村山圭, 岡崎康司, 菊池透, 徳山研一, 大竹明.
新生児マススクリーニングでは異常が認められなかったビオチニダーゼ欠損症クルド人.
日本小児科学会雑誌(0001-6543)123巻9号 Page1418-1423. (2019)

5. 山本梓, 江口英孝, 鈴木興秀, 近範泰, 伊藤徹哉, 田島雄介, 構奈央, 長井智則, 高井泰, 關博之, 赤木究, 岡崎康司, 石田秀行.
術前遺伝学的検査にてEPCAM遺伝子欠失によるリンチ症候群と診断した盲腸癌の1例.
癌と化学療法(0385-0684)45巻13号 Page2202-2204. (2018)

6. 天野邦彦, 近範泰, 伊藤徹哉, 山本梓, 幡野哲, 石畝亨, 福地稔, 熊谷洋一, 石橋敬一郎, 持木彫人, 岩間毅夫, 江口英孝, 岡﨑康司, 猪熊滋久, 石田秀行.
家族性大腸腺腫症に合併するデスモイド腫瘍の特徴と治療成績.
癌と化学療法 44(12): 1449-1451. (2017).

7. Ito T, Chika N, Yamamoto A, Ogura T, Amano K, Ishiguro T, Fukuchi M, Kumagai Y, Ishibashi K, Eguchi H, Okazaki Y, Mochiki E, Ishida H.
腸管との交通が疑われたデスモイド腫瘍に対して非観血的治療が奏効した家族性大腸腺腫症の1 例. 『癌と化学療法』Nov;43(12):2316-2319. (2016)

8. Yamamoto A, Suzuki O, Chika N, Ito T, Tajima Y, Kumamoto K, Eguchi H, Kumagai Y, Ishibashi K, Mochiki E, Okazaki Y, Ishida H.
MLH1遺伝子異常を原因とし大腸癌と子宮内膜癌を合併した若年者リンチ症候群の1例. 『癌と化学療法』Nov;43(12):1818-1820. (2016)

9. Sakimoto T, Chika N, Suzuki O, Ishibashi K, Tachikawa T, Akagi K, Eguchi H, Okazaki Y, Ishida H.
MSI-H大腸癌におけるBRAF V600E変異の検索−免疫染色と遺伝学的検査の比較−. 『癌と化学療法』Nov;43(12):1693-1695. (2016)

「英文総説」
1. Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases.
Murayama K, Shimura M, Liu Z, Okazaki Y, Ohtake A. J Hum Genet. 2019 Feb;64(2):113-125. doi: 10.1038/s10038-018-0528-6. Epub 2018 Nov 21. PMID: 30459337 Review.

2. Genomic aspects of common diseases.
Muramatsu M, Okuda A, Okazaki Y. Biochem Biophys Res Commun. 2014;452(2):211-212. doi:10.1016/j.bbrc.2014.09.036 PMID: 25242247

3. Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification. Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, Tamaru S, Yamashita I, Kishita Y, Kohda M, Tokuzawa Y, Mizuno Y, Moriyama Y, Kato H, Okazaki Y. Biochim Biophys Acta. 2014;1840(4):1355-1359. doi:10.1016/j.bbagen.2014.01.025. PMID: 24462578

「和文総説」
1. 木下善仁, 岡崎康司. 【ミトコンドリアと病気】(第1章)ミトコンドリア病の診断　ミトコンドリア病における包括的遺伝子検査. 遺伝子医学MOOK(1349-2527)35号 Page48-54(2020.05)

2. 江口英孝, 岡崎康司, 石田秀行, SGHGCSグループ. 【研究者間、研究者-医療者間のリンケージ】次世代シーケエンシング技術を用いた遺伝子解析による遺伝性消化管腫瘍症候群の診断法確立に関する研究グループ(SGHGCS). 家族性腫瘍(1346-1052)19巻1号 Page15-18(2019.09)

3. 江口英孝, 岡崎康司. 【腎泌尿器の遺伝性疾患・難病医療】次世代遺伝子解析技術を用いた希少難治性疾患の原因究明. 腎臓内科・泌尿器科(2188-9147)9巻5号 Page442-447(2019.05)

4. 江口英孝, 岡崎康司. 【リンチ症候群と遺伝性消化管ポリポーシス】遺伝学的検査とその臨床応用　リンチ症候群関連の遺伝学的検査. 臨床消化器内科(0911-601X)34巻6号 Page661-666(2019.05)

5. 松永綾子[藤浪], 倉信奈緒美, 田鹿牧子, 志村優, 伏見拓矢, 市本景子, 鶴岡智子, 千葉文子, 山本琢磨, 岡崎康司, 大竹明, 村山圭. 乳幼児突然死における原因検索ネットワークの構築　遺伝性疾患を見逃さないために. 日本SIDS・乳幼児突然死予防学会雑誌(1346-1680)18巻1号 Page34-38(2018.12)

6. 新井正美, 加藤俊介, 岡崎康司, 【ゲノム医療の実用化に向けた現状と課題】がん領域、特に遺伝性腫瘍におけるゲノム医療に関する最近の動向. 臨床医薬(0910-8211)34巻8号 Page583-589(2018.08)

7. 岡﨑康司. 【ゲノム医療の実用化に向けた現状と課題】全ゲノム情報を活用した米国医療の現状. 臨床医薬(0910-8211)34巻8号 Page561-566(2018.08)

8. 新井一(順天堂大学), 岡崎康司, 西川伸一【ゲノム医療の実用化に向けた現状と課題】座談会「ゲノム医療の未来」　全ゲノム解析がもたらす近未来の世界(座談会/特集)  臨床医薬 (0910-8211)34巻8号 Page590-594(2018.08)

9. 江口英孝, 岡﨑康司：日本のがんゲノム医療の現状と展望．呼吸器内科33（3）, 285-291, 科学評論社 (2018.3)

10. 大竹明, 村山圭, 岡﨑康司：ミトコンドリア病の診断 (特集先天代謝異常症 : エキスパートによる最新情報) -- (各疾患の進歩). 小児科診療 79(6)：789-795, 診断と治療社（2016-06）

11. 神田将和, 岡﨑康司：ミトコンドリア呼吸鎖異常症のゲノム解析, バイオサイエンスとインダストリー2016　Vol.74(2016)

12. 岡﨑康司, 菅原哲雄：ラボノートの書き方-記載上の留意点-　今更聞けないシリーズ：No.96 知財管理Vol.65 No.8 (2015)

13. 大竹　明, 岡﨑康司：「ミトコンドリア病の治療と予防」　機能性アミノ酸5-アミノレブリン酸の科学と医学応用-がんの診断・治療を中心に-　ポルフィリン-ALA学会編　現代科学・増刊45　東京化学同人（2015）

14. 岡﨑康司：「次世代シーケンサーを用いたミトコンドリア疾患の機能解析」アンチ・エイジング医学-日本抗加齢医学会雑誌 Vol.11 No.3 メディカルレビュー社（2015.6.1発行）

15. 岡﨑康司, 大竹明：別冊・医学のあゆみエクソーム解析－成果と将来 11.「トコンドリア呼吸鎖異常症のエクソーム解析」P68-74 医歯薬(2014)

16. 岡﨑康司, 大竹明：医学のあゆみエクソーム解析－成果と将来「トコンドリア呼吸鎖異常症のエクソーム解析」245(5)408-14 医歯薬(2013)

「和文著書」
1. 大竹明，岡﨑康司，村山圭　監訳：代謝ナビゲーション Navdeep S.Chandel著　NAVIGATING METABOLISM　メディカル・サイエンス・インターナショナル（2017）

2. 岡﨑康司，隅蔵康一：理系なら知っておきたいラボノートの書き方改訂版―論文作成, データ捏造防止,　特許に役立つ書き方+管理法がよくわかる！羊土社 (2016)

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岡﨑 康司（オカザキ ヤスシ）

岡﨑康司（オカザキヤスシ）