Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb
Nakashima, Mitsuko, Saitsu, Hirotomo, Takei, Nobuyuki, Tohyama, Jun, Kato, Mitsuhiro, Kitaura, Hiroki, Shiina, Masaaki, Shirozu, Hiroshi, Masuda, Hiroshi, Watanabe, Keisuke, Ohba, Chihiro, Tsurusaki, Yoshinori, Miyake, Noriko, Zheng, Yingjun, Sato, Tatsuhiro, Takebayashi, Hirohide, Ogata, Kazuhiro, Kameyama, Shigeki, Kakita, Akiyoshi, Matsumoto, Naomichi
Published in Annals of neurology (01.09.2015)
Published in Annals of neurology (01.09.2015)
Get full text
Journal Article
Structural basis of transcription regulation by CNC family transcription factor, Nrf2
Sengoku, Toru, Shiina, Masaaki, Suzuki, Kae, Hamada, Keisuke, Sato, Ko, Uchiyama, Akiko, Kobayashi, Shunsuke, Oguni, Asako, Itaya, Hayato, Kasahara, Kota, Moriwaki, Hirotomo, Watanabe, Chiduru, Honma, Teruki, Okada, Chikako, Baba, Shiho, Ohta, Tsutomu, Motohashi, Hozumi, Yamamoto, Masayuki, Ogata, Kazuhiro
Published in Nucleic acids research (28.11.2022)
Published in Nucleic acids research (28.11.2022)
Get full text
Journal Article
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Ohashi, Hirofumi, Kosho, Tomoki, Imai, Yoko, Hibi-Ko, Yumiko, Kaname, Tadashi, Naritomi, Kenji, Kawame, Hiroshi, Wakui, Keiko, Fukushima, Yoshimitsu, Homma, Tomomi, Kato, Mitsuhiro, Hiraki, Yoko, Yamagata, Takanori, Yano, Shoji, Mizuno, Seiji, Sakazume, Satoru, Ishii, Takuma, Nagai, Toshiro, Shiina, Masaaki, Ogata, Kazuhiro, Ohta, Tohru, Niikawa, Norio, Miyatake, Satoko, Okada, Ippei, Mizuguchi, Takeshi, Doi, Hiroshi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
Get full text
Journal Article
KDM6A Point Mutations Cause Kabuki Syndrome
Miyake, Noriko, Mizuno, Seiji, Okamoto, Nobuhiko, Ohashi, Hirofumi, Shiina, Masaaki, Ogata, Kazuhiro, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Niikawa, Norio, Matsumoto, Naomichi
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
Get full text
Journal Article
Homozygous splicing mutation in NUP133 causes Galloway–Mowat syndrome
Fujita, Atsushi, Tsukaguchi, Hiroyasu, Koshimizu, Eriko, Nakazato, Hitoshi, Itoh, Kyoko, Kuraoka, Shohei, Komohara, Yoshihiro, Shiina, Masaaki, Nakamura, Shohei, Kitajima, Mika, Tsurusaki, Yoshinori, Miyatake, Satoko, Ogata, Kazuhiro, Iijima, Kazumoto, Matsumoto, Naomichi, Miyake, Noriko
Published in Annals of neurology (01.12.2018)
Published in Annals of neurology (01.12.2018)
Get full text
Journal Article
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
Mizuguchi, Takeshi, Nakashima, Mitsuko, Kato, Mitsuhiro, Yamada, Keitaro, Okanishi, Tohru, Ekhilevitch, Nina, Mandel, Hanna, Eran, Ayelet, Toyono, Miyuki, Sawaishi, Yukio, Motoi, Hirotaka, Shiina, Masaaki, Ogata, Kazuhiro, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Journal of human genetics (01.05.2017)
Published in Journal of human genetics (01.05.2017)
Get full text
Journal Article
De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy
Nakashima, Mitsuko, Kato, Mitsuhiro, Aoto, Kazushi, Shiina, Masaaki, Belal, Hazrat, Mukaida, Souichi, Kumada, Satoko, Sato, Atsushi, Zerem, Ayelet, Lerman‐Sagie, Tally, Lev, Dorit, Leong, Huey Yin, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Ogata, Kazuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Annals of neurology (01.04.2018)
Published in Annals of neurology (01.04.2018)
Get full text
Journal Article
Antimicrobial peptide LL-37 attenuates infection of hepatitis C virus
Matsumura, Takuya, Sugiyama, Nao, Murayama, Asako, Yamada, Norie, Shiina, Masaaki, Asabe, Shinichi, Wakita, Takaji, Imawari, Michio, Kato, Takanobu
Published in Hepatology research (01.08.2016)
Published in Hepatology research (01.08.2016)
Get full text
Journal Article
De novo SOX11 mutations cause Coffin–Siris syndrome
Tsurusaki, Yoshinori, Koshimizu, Eriko, Ohashi, Hirofumi, Phadke, Shubha, Kou, Ikuyo, Shiina, Masaaki, Suzuki, Toshifumi, Okamoto, Nobuhiko, Imamura, Shintaro, Yamashita, Michiaki, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Kodera, Hirofumi, Miyatake, Satoko, Nakashima, Mitsuko, Saitsu, Hirotomo, Ogata, Kazuhiro, Ikegawa, Shiro, Miyake, Noriko, Matsumoto, Naomichi
Published in Nature communications (02.06.2014)
Published in Nature communications (02.06.2014)
Get full text
Journal Article
Characterization of the epithelial cell adhesion molecule (EpCAM)+ cell population in hepatocellular carcinoma cell lines
Kimura, Osamu, Takahashi, Takeshi, Ishii, Naoto, Inoue, Yuki, Ueno, Yoshiyuki, Kogure, Takayuki, Fukushima, Koji, Shiina, Masaaki, Yamagiwa, Yoko, Kondo, Yasuteru, Inoue, Jun, Kakazu, Eiji, Iwasaki, Takao, Kawagishi, Naoki, Shimosegawa, Tooru, Sugamura, Kazuo
Published in Cancer science (01.10.2010)
Published in Cancer science (01.10.2010)
Get full text
Journal Article
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Miyake, Noriko, Tsukaguchi, Hiroyasu, Koshimizu, Eriko, Shono, Akemi, Matsunaga, Satoko, Shiina, Masaaki, Mimura, Yasuhiro, Imamura, Shintaro, Hirose, Tomonori, Okudela, Koji, Nozu, Kandai, Akioka, Yuko, Hattori, Motoshi, Yoshikawa, Norishige, Kitamura, Akiko, Cheong, Hae Il, Kagami, Shoji, Yamashita, Michiaki, Fujita, Atsushi, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Ohashi, Kenichi, Imamoto, Naoko, Ryo, Akihide, Ogata, Kazuhiro, Iijima, Kazumoto, Matsumoto, Naomichi
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
Get full text
Journal Article
Molecular mechanisms of cooperative binding of transcription factors Runx1-CBFβ-Ets1 on the TCRα gene enhancer
Kasahara, Kota, Shiina, Masaaki, Fukuda, Ikuo, Ogata, Kazuhiro, Nakamura, Haruki
Published in PloS one (01.02.2017)
Published in PloS one (01.02.2017)
Get full text
Journal Article
Natural killer cell function is intact after direct exposure to infectious hepatitis C virions
Yoon, Joo Chun, Shiina, Masaaki, Ahlenstiel, Golo, Rehermann, Barbara
Published in Hepatology (Baltimore, Md.) (01.01.2009)
Published in Hepatology (Baltimore, Md.) (01.01.2009)
Get full text
Journal Article
N‐Terminal PreS1 Sequence Regulates Efficient Infection of Cell‐Culture–Generated Hepatitis B Virus
Murayama, Asako, Yamada, Norie, Osaki, Yoshiki, Shiina, Masaaki, Aly, Hussein Hassan, Iwamoto, Masashi, Tsukuda, Senko, Watashi, Koichi, Matsuda, Mami, Suzuki, Ryosuke, Tanaka, Tomohisa, Moriishi, Kohji, Suzuki, Tetsuro, Nishitsuji, Hironori, Sugiyama, Masaya, Mizokami, Masashi, Shimotohno, Kunitada, Wakita, Takaji, Muramatsu, Masamichi, Liang, T. Jake, Kato, Takanobu
Published in Hepatology (Baltimore, Md.) (01.02.2021)
Published in Hepatology (Baltimore, Md.) (01.02.2021)
Get full text
Journal Article
Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy
Saitsu, Hirotomo, Osaka, Hitoshi, Sasaki, Masayuki, Takanashi, Jun-ichi, Hamada, Keisuke, Yamashita, Akio, Shibayama, Hidehiro, Shiina, Masaaki, Kondo, Yukiko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Miyake, Noriko, Doi, Hiroshi, Ogata, Kazuhiro, Inoue, Ken, Matsumoto, Naomichi
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
Get full text
Journal Article
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders
Mizuguchi, Takeshi, Nakashima, Mitsuko, Kato, Mitsuhiro, Okamoto, Nobuhiko, Kurahashi, Hirokazu, Ekhilevitch, Nina, Shiina, Masaaki, Nishimura, Gen, Shibata, Takashi, Matsuo, Muneaki, Ikeda, Tae, Ogata, Kazuhiro, Tsuchida, Naomi, Mitsuhashi, Satomi, Miyatake, Satoko, Takata, Atsushi, Miyake, Noriko, Hata, Kenichiro, Kaname, Tadashi, Matsubara, Yoichi, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Human molecular genetics (15.04.2018)
Published in Human molecular genetics (15.04.2018)
Get full text
Journal Article
Suppressive expression of CD274 increases tumorigenesis and cancer stem cell phenotypes in cholangiocarcinoma
Tamai, Keiichi, Nakamura, Mao, Mizuma, Masamichi, Mochizuki, Mai, Yokoyama, Misa, Endo, Hiroyuki, Yamaguchi, Kazunori, Nakagawa, Takayuki, Shiina, Masaaki, Unno, Michiaki, Muramoto, Koji, Sato, Ikuro, Satoh, Kennichi, Sugamura, Kazuo, Tanaka, Nobuyuki
Published in Cancer science (01.06.2014)
Published in Cancer science (01.06.2014)
Get full text
Journal Article
Regulation of hepatitis C virus secretion by the Hrs-dependent exosomal pathway
Tamai, Keiichi, Shiina, Masaaki, Tanaka, Nobuyuki, Nakano, Takashi, Yamamoto, Akitsugu, Kondo, Yasuteru, Kakazu, Eiji, Inoue, Jun, Fukushima, Koji, Sano, Kouichi, Ueno, Yoshiyuki, Shimosegawa, Tooru, Sugamura, Kazuo
Published in Virology (New York, N.Y.) (20.01.2012)
Published in Virology (New York, N.Y.) (20.01.2012)
Get full text
Journal Article
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy
Miyake, Noriko, Fukai, Ryoko, Ohba, Chihiro, Chihara, Takahiro, Miura, Masayuki, Shimizu, Hiroshi, Kakita, Akiyoshi, Imagawa, Eri, Shiina, Masaaki, Ogata, Kazuhiro, Okuno-Yuguchi, Jiu, Fueki, Noboru, Ogiso, Yoshifumi, Suzumura, Hiroshi, Watabe, Yoshiyuki, Imataka, George, Leong, Huey Yin, Fattal-Valevski, Aviva, Kramer, Uri, Miyatake, Satoko, Kato, Mitsuhiro, Okamoto, Nobuhiko, Sato, Yoshinori, Mitsuhashi, Satomi, Nishino, Ichizo, Kaneko, Naofumi, Nishiyama, Akira, Tamura, Tomohiko, Mizuguchi, Takeshi, Nakashima, Mitsuko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
Get full text
Journal Article