Resultados da pesquisa - Masaaki Shiina
- A mostrar 1 - 20 resultados de 29
- Go to Next Page
-
1
-
2
-
3
-
4
-
5
Branched chain amino acids enhance the maturation and function of myeloid dendritic cells ex vivo in patients with advanced cirrhosis Por Eiji Kakazu, Yoshiyuki Ueno, Yasuteru Kondo, Koji Fukushima, Masaaki Shiina, Jun Inoue, Keiichi Tamai, Masashi Ninomiya, Tooru Shimosegawa
Publicado em 2009Artigo -
6
-
7
A <i>PLK4</i> mutation causing azoospermia in a man with Sertoli cell‐only syndrome Por Toshinobu Miyamoto, Yoshio Bandô, E. Koh, Akira Tsujimura, Yasushi Miyagawa, Masashi Iijima, Mikio Namiki, Masaaki Shiina, Kazuhiro Ogata, Nobuyuki Matsumoto, Kazuo Sengoku
Publicado em 2015Artigo -
8
De novo <i><scp>DNM1</scp></i> mutations in two cases of epileptic encephalopathy Por Mitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, Masaaki Shiina, Tomohide Goto, Yoshinori Tsurusaki, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Hitoshi Osaka, Naomichi Matsumoto
Publicado em 2015Artigo -
9
Structural Analyses of DNA Recognition by the AML1/Runx-1 Runt Domain and Its Allosteric Control by CBFβ Por T.H. Tahirov, Taiko Inoue-Bungo, Hisayuki Morii, Atsushi Fujikawa, Motoko Sasaki, Kazumi Kimura, Masaaki Shiina, Ko Sato, Takashi Kumasaka, Masaki Yamamoto, Shunsuke Ishii, Kazuhiro Ogata
Publicado em 2001Artigo -
10
Mechanism of c-Myb–C/EBPβ Cooperation from Separated Sites on a Promoter Por T.H. Tahirov, Ko Sato, Emi Ichikawa-Iwata, Motoko Sasaki, Taiko Inoue-Bungo, Masaaki Shiina, Kazumi Kimura, Shioka Takata, Atsushi Fujikawa, Hisayuki Morii, Takashi Kumasaka, Masaki Yamamoto, Shunsuke Ishii, Kazuhiro Ogata
Publicado em 2002Artigo -
11
Characterization of the epithelial cell adhesion molecule (EpCAM)<sup>+</sup> cell population in hepatocellular carcinoma cell lines Por Osamu Kimura, Takeshi Takahashi, Naoto Ishii, Yuki Inoue, Yoshiyuki Ueno, Takayuki Kogure, Koji Fukushima, Masaaki Shiina, Yoko Yamagiwa, Yasuteru Kondo, Jun Inoue, Eiji Kakazu, Takao Iwasaki, Naoki Kawagishi, Tooru Shimosegawa, Kazuo Sugamura
Publicado em 2010Artigo -
12
Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy Por Hirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki, Jun‐ichi Takanashi, Keisuke Hamada, Akio Yamashita, Hidehiro Shibayama, Masaaki Shiina, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Noriko Miyake, Hiroshi Doi, Kazuhiro Ogata, Ken Inoue, Naomichi Matsumoto
Publicado em 2011Artigo -
13
Mitochondrial Complex III Deficiency Caused by a Homozygous<i>UQCRC2</i>Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation Por Noriko Miyake, Shoji Yano, Chika Sakai, Hideyuki Hatakeyama, Yuichi Matsushima, Masaaki Shiina, Yoriko Watanabe, James Bartley, José E. Abdenur, Raymond Wang, Richard Chang, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Yu-ichi Goto, Naomichi Matsumoto
Publicado em 2012Artigo -
14
Structural basis of transcription regulation by CNC family transcription factor, Nrf2 Por Toru Sengoku, Masaaki Shiina, Kae Suzuki, Keisuke Hamada, Ko Sato, Akiko Uchiyama, Shunsuke Kobayashi, Asako Oguni, Hayato Itaya, Kota Kasahara, Hirotomo Moriwaki, Chiduru Watanabe, Teruki Honma, Chikako Okada, Shiho Baba, Tsutomu Ohta, Hozumi Motohashi, Masayuki Yamamoto, Kazuhiro Ogata
Publicado em 2022Artigo -
15
Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation Por Hiroshi Doi, Kunihiro Yoshida, Takao Yasuda, Mitsunori Fukuda, Y. Fukuda, Hiroshi Morita, Shu-ichi Ikeda, Rumiko Kato, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Haruya Sakai, Satoko Miyatake, Masaaki Shiina, Nobuyuki Nukina, Shigeru Koyano, Shoji Tsuji, Yoshiyuki Kuroiwa, Naomichi Matsumoto
Publicado em 2011Artigo -
16
<i>De novo</i> variants in <i><scp>CAMK</scp>2A</i> and <i><scp>CAMK</scp>2B</i> cause neurodevelopmental disorders Por Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Mitsuko Nakashima, Ichiro Kuki, Shin Okazaki, Shinichi Magara, Takashi Shiihara, Kenji Yokochi, Kaori Aiba, Jun Tohyama, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Publicado em 2018Artigo -
17
De novo SOX11 mutations cause Coffin–Siris syndrome Por Yoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, Shubha R. Phadke, Ikuyo Kou, Masaaki Shiina, Toshifumi Suzuki, Nobuhiko Okamoto, Shintaro Imamura, Michiaki Yamashita, Satoshi Watanabe, Koh-ichiro Yoshiura, Hirofumi Kodera, Satoko Miyatake, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Shiro Ikegawa, Noriko Miyake, Naomichi Matsumoto
Publicado em 2014Artigo -
18
<i><scp>GRIN</scp>1</i> mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders Por Chihiro Ohba, Masaaki Shiina, Jun Tohyama, Kazuhiro Haginoya, Tally Lerman‐Sagie, Nobuhiko Okamoto, Lubov Blumkin, Dorit Lev, Souichi Mukaida, Fumihito Nozaki, Mitsugu Uematsu, Akira Onuma, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Mitsuhiro Kato, Kazuhiro Ogata, Hirotomo Saitsu, Naomichi Matsumoto
Publicado em 2015Artigo -
19
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay Por Hirotomo Saitsu, Ryoko Fukai, Bruria Ben‐Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saitō, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
Publicado em 2015Artigo -
20
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders Por Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Nobuhiko Okamoto, Hirokazu Kurahashi, Nina Ekhilevitch, Masaaki Shiina, Gen Nishimura, Takashi Shibata, Muneaki Matsuo, Tae Ikeda, Kazuhiro Ogata, Naomi Tsuchida, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara, Hirotomo Saitsu, Naomichi Matsumoto
Publicado em 2018Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Biology
Gene
Genetics
Mutation
Medicine
Missense mutation
Biochemistry
Cell biology
Exome sequencing
Internal medicine
Molecular biology
Encephalopathy
Epilepsy
Immunology
In vitro
Intellectual disability
Neuroscience
Phenotype
Transcription factor
Chemistry
Gene expression
Immune system
Myopathy
Nemaline myopathy
Nonsense mutation
Pathology
Peripheral blood mononuclear cell
Psychiatry
Atrophy
Cell