Juntendo University · Graduate School of Medicine / Faculty of Medicine · 特任准教授

Research keywords分子生物学・人類遺伝学・ミトコンドリア・ゲノム解析

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• Kishita Y, Ishikawa K, Nakada K, Hayashi JI, 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. 11(1):11123. 20212021
• 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. 11(1):3531. 20212021
• 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. 221(1):376. 20202020
• 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. e1427. 20202020

• ミトコンドリア-小胞体相互作用とミトコンドリア病発症メカニズムの関連の解明
• 遺伝子発現異常を生じるミトコンドリア病原因変異の包括的解析
• ミトコンドリア鉄代謝のホメオスタシスと疾患の関連
• 日本人小児ミトコンドリア病の固有VUSに対する網羅的な機能的アノテーション

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