2021年

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

Sasako T, Ueki K, Miyake K, Okazaki Y, Takeuchi Y, Ohashi Y, Noda M, Kadowaki T. Effect of a Multifactorial Intervention on Fracture in Patients With Type 2 Diabetes: Subanalysis of the J-DOIT3 Study. J Clin Endocrinol Metab 2021;106(5):e2116-e2128.

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

Ueki K, Sasako T, Okazaki Y, Miyake K, Nangaku M, Ohashi Y, Noda M, Kadowaki T, Group J.D.S. Multifactorial intervention has a significant effect on diabetic kidney disease in patients with type 2 diabetes. Kidney Int 2021;99(1):256-266.

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.

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.

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.

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.

2020年

Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Eguchi H, Okazaki Y, Akagi K, Tamaru JI, 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. 2020 Nov 27:hyaa207. doi: 10.1093/jjco/hyaa207. Online ahead of print. PMID: 33244609

Borna NN, 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 Nov 9;11(11):E1325. doi: 10.3390/genes11111325. PMID: 33182419.

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 Oct 29;4(4):165-173. doi: 10.23922/jarc.2020-026. eCollection 2020. PMID: 33134597

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. Published 2020 Aug 28. doi:10.1186/s12882-020-02040-z. PMID: 32859164

Yamamoto A, Yamaguchi T, Suzuki O, Ito T, Chika N, Kamae N, Tamaru JI, 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. 2020 Aug 26:hyaa142. doi: 10.1093/jjco/hyaa142. PMID: 32844218

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 JM. Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy. J. Clin. Pathol. 2020 Aug 17:jclinpath-2020-206801. doi: 10.1136/jclinpath-2020-206801. PMID: 32817174

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 Aug 4:e1427. doi: 10.1002/mgg3.1427. PMID: 32749073

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 Aug;40(8):4379-4385. doi: 10.21873/anticanres.14441. PMID: 32727766

Ramilowski JA, Yip CW, Agrawal S, Chang JC, Ciani Y, Kulakovskiy IV, Mendez M, Ooi JLC, Ouyang JF, Parkinson N, Petri A, Roos L, Severin J, Yasuzawa K, Abugessaisa I, Akalin A, Antonov IV, Arner E, Bonetti A, Bono H, Borsari B, Brombacher F, Cameron CJ, Cannistraci CV, 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 EL, Itoh M, Kaczkowski B, Kanhere A, Kawabata E, Kawaji H, Kawashima T, Kelly ST, Kojima M, Kondo N, Koseki H, Kouno T, Kratz A, Kurowska-Stolarska M, Kwon ATJ, Leek J, Lennartsson A, Lizio M, López-Redondo F, Luginbühl J, Maeda S, Makeev VJ, Marchionni L, Medvedeva YA, Minoda A, Müller F, Muñoz-Aguirre M, Murata M, Nishiyori H, Nitta KR, Noguchi S, Noro Y, Nurtdinov R, Okazaki Y, Orlando V, Paquette D, Parr CJC, Rackham OJL, Rizzu P, Sánchez Martinez DF, Sandelin A, Sanjana P, Semple CAM, Shibayama Y, Sivaraman DM, Suzuki T, Szumowski SC, Tagami M, Taylor MS, Terao C, Thodberg M, Thongjuea S, Tripathi V, Ulitsky I, Verardo R, Vorontsov IE, Yamamoto C, Young RS, Baillie JK, Forrest ARR, Guigó R, Hoffman MM, Hon CC, Kasukawa T, Kauppinen S, Kere J, Lenhard B, Schneider C, Suzuki H, Yagi K, de Hoon MJL, Shin JW, Carninci P. Functional annotation of human long noncoding RNAs via molecular phenotyping. Genome Res. 2020 Jul;30(7):1060-1072. doi: 10.1101/gr.254219.119. Epub 2020 Jul 27. PMID: 32718982

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 Jul 24;15(1):169. doi: 10.1186/s13023-020-01441-5. PMID: 32703289

Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, Knaap MS, Vermeulen RJ, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus. Med 2020 July 9; doi:10.1016/j.medj.2020.06.004

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 Jun 17:hyaa090. doi: 10.1093/jjco/hyaa090. Online ahead of print. PMID: 32548621

Borna NN, 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 Jul 1;143(7):e54. doi: 10.1093/brain/awaa130. PMID: 32462209.

Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clin. Genet. 2020 Aug;98(2):155-165. doi: 10.1111/cge.13773. Epub 2020 May 25.　PMID: 32385911

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 Jul 9;50(7):826-829. doi: 10.1093/jjco/hyaa059. PMID: 3237872.

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 Apr 15. doi: 10.1002/1873-3468.13792. Online ahead of print. PMID: 32294252

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 γ target gene that regulates adipogenesis through ceramide synthesis. J. Biol. Chem. 2020 Apr 10;295(15):5176. doi: 10.1074/jbc.AAC120.013475. PMID: 32277067.

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 Dec;50(12):1694-1698. doi: 10.1007/s00595-020-01998-5. Epub 2020 Apr 6. PMID: 32253514.

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 May;25(5):302-311. doi: 10.1111/gtc.12759. Epub 2020 Mar 6. PMID: 32065490

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 Jul;43(4):819-826. doi: 10.1002/jimd.12218. Epub 2020 Feb 10. PMID: 31967322.

Kobayashi M, Matsubara N, Nakachi Y, Okazaki Y, Uchino M, Ikeuchi H, Song J, Kimura K, Yasuhara M, Babaya A, Yamano T, Ikeda M, Nishikawa H, Matsuda I, Hirota S, Tomita N. Hypermethylation of Corticotropin Releasing Hormone Receptor-2 Gene in Ulcerative Colitis Associated Colorectal Cancer. In Vivo. 2020 Jan-Feb;34(1):57-63. doi: 10.21873/invivo.11745. PMID: 31882463.

 

2019年

Shimura M, Kishita Y, Okazaki Y, Murayama K. et al. Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases. Sci. Rep. 2019;9(1):10549.

Moutaoufik MT, Okazaki Y, Babu M. et al. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. iScience. 2019;19:1114-1132.

Yao Y, Kishita Y, Okazaki Y, Tanaka T. et al. 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.

Takenouchi T, Okazaki Y, Tomizawa K. et al. Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood. Am. J. Med. Genet. A. 2019;179(8):1609-1614.

Mitsui Y, Eguchi H, Okazaki Y, Takayama T. et al. 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.

Mitsui Y, Eguchi H, Okazaki Y, Takayama T. et al. 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 2019;21(6):1058-1063

A Imai-Okazaki, Kishita, Y Kohda M, Okazaki Y. et al. Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. Int. J. Cardiol. 2019; 279:115-121

Shimada S, Mogushi K, Tanaka S. et al. Comprehensive molecular and immunological characterization of hepatocellular carcinoma. EBioMedicine. 2019;40:457-470.

2018年

Martin CA, Kishita Y, Kohda M, Okazaki Y, Jackson AP. et al. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am. J. Hum. Genet. 2018;103(2):221-231.

Asano K, Kishita Y, Okazaki Y, Suzuki T. et al.　Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease. Nucleic Acids Res. 2018;46(4):1565-1583.

Mitsui Y, Eguchi H, Okazaki Y, Takayama T. et al. 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

Hirasaki M, Kohda M, Okazaki Y, Okuda A et al. 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

Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Okazaki Y. et al.　Barth Syndrome: Different Approaches to Diagnosis. J. Pediatr. 2018 ;193:256-260.

Ng YS, Okazaki Y, Gorman GS. et al. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. EBioMedicine. 2018;30:86-93.

Yamaguchi S, Mogushi K, Ishioka C, Kato S. et al. Molecular and clinical features of the TP53 signature gene expression profile in early-stage breast cancer. Annals of Oncology 2018;9(18):14193-14206.

Shimada S, Mogushi K, Tanaka S. et al. Comprehensive molecular and immunological characterization of hepatocellular carcinoma. EBioMedicine 2018;S2352-3964(18)30634-0.

Horimoto Y, Mogushi K, Saito M. et al. Elucidation of inhibitory effects on metastatic sentinel lymph nodes of breast cancer during One-Step Nucleic Acid Amplification. Sci. Rep. 2018;8(1):7563.

2017年

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. 2017;38(12):1796-1800.

Desai R, ,Kohda M, Ohtake A, Murayama K, Okazaki Y, , Spinazzola A. et al. : ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain. 2017;140(6):1595-1610.

Noguchi S, Okazaki Y, Hayashizaki Y. et al. : Data Descriptor: FANTOM5 CAGE profiles of human and mouse samples : Sci. Data 2017;4:170112. doi: 10.1038/sdata.2017.112.

Tochigi H, Okazaki Y, Brosens J.J, Ishihara O et al.: Loss of miR-542-3p enhances IGFBP-1 expression in decidualizing human endometrial stromal cells. Sci. Rep. 7:40001, 2017
Ogawa E, Kohda M, Kishita Y, Okazaki Y, Ohtake A, Murayama K et al. :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.

Feichtinger RG, Kishita Y, Kohda M, Okazaki Y, Minczuk M, Prokisch H. et al. 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.

Ishizawa J, Mogushi K, Saya H. et al. FZR1 loss increases sensitivity to DNA damage and consequently promotes murine and human B cell acute leukemia. Blood 2017;129(14):1958-1968.

Tabe Y, Mogushi K, Andreeff M. et al. Survival of acute monocytic leukemia cells is driven by fatty acid oxidation-mediated activation of AMPK in bone marrow adipocytes. Cancer Res. 2017;77(6):1453-1464.

Yoshida E, T Mogushi K, Kawaji H. et al. Promoter-level transcriptome in primary lesions of endometrial cancer identified biomarkers associated with lymph node metastasis. Sci. Rep. 2017;7(1):14160.

2016年

Toda-Ishii M, Mogushi K, Saito T. et al. Clinicopathological effects of protein phosphatase 2, regulatory subunit A, alpha mutations in gastrointestinal stromal tumors. Mod. Pathol. 29:1424-1432, 2016.

Morita T, Mogushi K, Harada K. et al. Characterizing Genetic Transitions of Copy Number Alterations and Allelic Imbalances in Oral Tongue Carcinoma Metastasis. Genes Chromosom. Cancer. 55:975-986, 2016.

Takamochi K, Mogushi K, Kawaji H. et al. Novel biomarkers that assist in accurate discrimination of squamous cell carcinoma from adenocarcinoma of the lung. BMC Cancer. 16:760, 2016.