難病の診断と治療研究センター
研究業績データ
主な研究業績（2020年）NEW
| 1 | 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. |
| 2 | 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 deficiencyClin Genet. 2020 Aug;98(2):155-165. |
| 3 | Takakuwa K, Mogushi K, Han M, Fujii T, Hosoya M, Yamanami A, Akita T, Yamashita C, Hayashida T, Kato S, Yamaguchi S. A novel diagnostic system to evaluate epidermal growth factor receptor impact as a prognostic and therapeutic indicator for lung adenocarcinoma. Sci Rep. 2020;10(1):6214. |
| 4 | Okano M, Nomizu T, Tachibana K, Nagatsuka M, Matsuzaki M, Katagata N, Ohtake T, Yokoyama S, Arai M, Nakamura S.The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database.J Hum Genet. 2021 Mar;66(3):307-314.12 October 2020 |
| 5 | Horimoto Y, Thinzar Hlaing M, Saeki H, Kitano S, Nakai K, Sasaki R, Kurisaki-Arakawa A, Arakawa A, Otsuji N, Matsuoka S, Tokuda E, Arai M, Saito M.Microsatellite instability and mismatch repair protein expressions in lymphocyte-predominant breast cancer.Cancer Sci. 2020 Jul;111(7):2647-2654. |
| 6 | Yasuoka Y, Matsumoto M, Yagi K, Okazaki Y.Evolutionary history of GLIS genes illuminates their roles in cell reprogramming and ciliogenesisMol. Biol. Evol., 2020, 37(1), 100-109 |
| 7 | 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):1325. |
| 8 | 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. |
| 9 | 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. |
| 10 | Inoue S, Yoshida E (Co-first), Fukui Y, Ueno T, Kawazu M, Takeyama R, Ikemura M, Osuga Y, Terao Y, Hirota Y, Mano H. KRAS mutations in uterine endometrium are associated with gravidity and parity. Cell Death Dis. 2020 May 11;11(5):347. |