Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by MT-TL1 mutation: A... oleh Toshiyuki Imasawa, Hiroshi Kitamura, Takehiko Kawaguchi, Yukiko Yatsuka, Yasushi Okazaki, Kei Murayama

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Germline deletion of chromosome 2p16-21 associated with Lynch syndrome oleh Soichiro Natsume, Tatsuro Yamaguchi, Hidetaka Eguchi, Yasushi Okazaki, Shin-ichiro Horiguchi, Hideyuki Ishida

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CD82 is a marker to isolate β cell precursors from human iPS cells and plays a role for the maturation of β cells oleh Ami Watanabe, Anna Tanaka, Chizuko Koga, Masahito Matsumoto, Yasushi Okazaki, Tatsuya Kin, Atsushi Miyajima

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Demeanor of rivaroxaban in activated/inactivated FXa oleh Kaname Seki, Yosuke Mizuno, Toku Sakashita, Shintaro Nakano, Jun Tanno, Yasushi Okazaki, Toshihiro Muramatsu, Shigeyuki Nishimura, Takaaki Senbonmatsu

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A Japanese patient with neonatal biotin-responsive basal ganglia disease oleh Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka

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Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients. oleh Koichi Hagiwara, Hiroyuki Morino, Jun Shiihara, Tomoaki Tanaka, Hitoshi Miyazawa, Tomoko Suzuki, Masakazu Kohda, Yasushi Okazaki, Kuniaki Seyama, Hideshi Kawakami

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Interleukin-4 Promotes Tuft Cell Differentiation and Acetylcholine Production in Intestinal Organoids of Non-Human Primate oleh Akihiko Inaba, Ayane Arinaga, Keisuke Tanaka, Takaho Endo, Norihito Hayatsu, Yasushi Okazaki, Takumi Yamane, Yuichi Oishi, Hiroo Imai, Ken Iwatsuki

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Crohn’s Disease Presenting as Granulomatous Appendicitis oleh Ryota Otsuka, Koichi Shinoto, Yasushi Okazaki, Kota Sato, Atsushi Hirano, Tetsuro Isozaki, Tomohide Tamachi, Tomoya Hirai, Shohei Yonemoto, Hisahiro Matsubara

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Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report oleh Tsukasa Naganuma, Toshiyuki Imasawa, Ikuo Nukui, Masakiyo Wakasugi, Hiroshi Kitamura, Yukiko Yatsuka, Yoshihito Kishita, Yasushi Okazaki, Kei Murayama, Yoshimi Jinguji

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Biomarker discovery for practice of precision medicine in hypopharyngeal cancer: a theranostic study on response prediction of the key therapeutic agents oleh Yumiko Kawata-Shimamura, Hidetaka Eguchi, Reika Kawabata-Iwakawa, Mitsuhiko Nakahira, Yasushi Okazaki, Tetsuya Yoda, Reidar Grénman, Masashi Sugasawa, Masahiko Nishiyama

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Ngn3-Positive Cells Arise from Pancreatic Duct Cells oleh Chiemi Kimura-Nakajima, Kousuke Sakaguchi, Yoshiko Hatano, Masahito Matsumoto, Yasushi Okazaki, Keisuke Tanaka, Takumi Yamane, Yuichi Oishi, Kenji Kamimoto, Ken Iwatsuki

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A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome oleh Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Takuya Fushimi, Masaru Shimura, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki

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Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis oleh Naohisa Yoshida, Hideki Ishikawa, Hidetaka Eguchi, Yasushi Okazaki, Ryohei Hirose, Ken Inoue, Osamu Dohi, Yoshito Itoh, Michihiro Mutoh, Shingo Ishiguro, Hideyuki Ishida

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<i>PKD1</i> Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease oleh Tomoki Kimura, Haruna Kawano, Satoru Muto, Nobuhito Muramoto, Toshiaki Takano, Yan Lu, Hidetaka Eguchi, Hiroo Wada, Yasushi Okazaki, Hisamitsu Ide, Shigeo Horie

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Prevalence and Molecular Characterization of Defective DNA Mismatch Repair in Small-bowel Carcinoma in a Japanese Hospital-based Population oleh Tetsuya Ito, Hideyuki Ishida, Okihide Suzuki, Noriyasu Chika, Kunihiko Amano, Keiichiro Ishibashi, Nao Kamae, Yuhki Tada, Kiwamu Akagi, Hidetaka Eguchi, Yasushi Okazaki

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A Case of Lamina Lucida-Type Linear IgA Disease Complicated by Colon Polyposis and Rectal Adenocarcinoma oleh Akiko Miyazaki, Saori Itoi-Ochi, Mami Hayashi, Asako Ota, Kengo Nagai, Shinya Inoue, Naohiro Tomita, Hidetaka Eguchi, Yasushi Okazaki, Hideyuki Ishida, Takashi Hashimoto

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A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome oleh Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki

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A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes oleh Yujiro Maeoka, Toshiki Doi, Masaho Aizawa, Kisho Miyasako, Shuma Hirashio, Yukinari Masuda, Yoshihito Kishita, Yasushi Okazaki, Kei Murayama, Toshiyuki Imasawa, Shigeo Hara, Takao Masaki

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Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome oleh 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

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Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study oleh Kokoro Ozaki, Takashi Irioka, Toshiki Uchihara, Akane Yamada, Ayako Nakamura, Takamasa Majima, Susumu Igarashi, Hiroshi Shintaku, Mayumi Yakeishi, Yukio Tsuura, Yasushi Okazaki, Kinya Ishikawa, Takanori Yokota

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