椎名政昭 (Masaaki Shiina) - マイポータル

基本情報

J-GLOBAL ID: 201201078855662429
researchmap会員ID: 7000000596

外部リンク: http://www-user.yokohama-cu.ac.jp/~seika/index.html

横浜市立大学医学部病理学第二講座助手、横浜市立大学博士研究員を経て、現職

研究キーワード

研究分野

経歴

論文

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

Noriko Miyake, Ryoko Fukai, Chihiro Ohba, Takahiro Chihara, Masayuki Miura, Hiroshi Shimizu, Akiyoshi Kakita, Eri Imagawa, Masaaki Shiina, Kazuhiro Ogata …

American journal of human genetics 99(4) 950-961 2016年10月6日査読有り
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

Ryoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, Yasunari Sakai, Aviva Fattal-Valevski, Shiina Masaaki, Yukihiro Kitai, Michiko Torio, Kanako Kojima-Ishii, Kenji Ihara …

JOURNAL OF HUMAN GENETICS 61(5) 451-455 2016年5月査読有り
A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome

T. Miyamoto, Y. Bando, E. Koh, A. Tsujimura, Y. Miyagawa, M. Iijima, M. Namiki, M. Shiina, K. Ogata, N. Matsumoto …

ANDROLOGY 4(1) 75-81 2016年1月
De novo DNM1 mutations in two cases of epileptic encephalopathy

Mitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenco, Masaaki Shiina, Tomohide Goto, Yoshinori Tsurusaki, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata …

EPILEPSIA 57(1) E18-E23 2016年1月査読有り
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

Hirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saito, Barak Tziperman …

European journal of human genetics : EJHG 24(1) 129-34 2016年1月査読有り
Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst

Yoji Ogura, Noriko Miyake, Ikuyo Kou, Aritoshi Iida, Masahiro Nakajima, Kazuki Takeda, Shunsuke Fujibayashi, Masaaki Shiina, Eijiro Okada, Yoshiaki Toyama …

PLoS One 10(11) 2015年11月
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

Noriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu, Akemi Shono, Satoko Matsunaga, Masaaki Shiina, Yasuhiro Mimura, Shintaro Imamura, Tomonori Hirose, Koji Okudela …

AMERICAN JOURNAL OF HUMAN GENETICS 97(4) 555-566 2015年10月
Novel compound heterozygous LIAS mutations cause glycine encephalopathy

Yoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada, Keiko Shimojima, Masaaki Shiina, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Kazuhiro Ogata, Toshiyuki Yamamoto …

JOURNAL OF HUMAN GENETICS 60(10) 631-635 2015年10月
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb

Mitsuko Nakashima, Hirotomo Saitsu, Nobuyuki Takei, Jun Tohyama, Mitsuhiro Kato, Hiroki Kitaura, Masaaki Shiina, Hiroshi Shirozu, Hiroshi Masuda, Keisuke Watanabe …

ANNALS OF NEUROLOGY 78(3) 375-386 2015年9月
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

Chihiro Ohba, Masaaki Shiina, Jun Tohyama, Kazuhiro Haginoya, Tally Lerman-Sagie, Nobuhiko Okamoto, Lubov Blumkin, Dorit Lev, Souichi Mukaida, Fumihito Nozaki …

EPILEPSIA 56(6) 841-848 2015年6月査読有り
A Novel Allosteric Mechanism on Protein-DNA Interactions underlying the Phosphorylation-Dependent Regulation of Ets1 Target Gene Expressions

Masaaki Shiina, Keisuke Hamada, Taiko Inoue-Bungo, Mariko Shimamura, Akiko Uchiyama, Shiho Baba, Ko Sato, Masaki Yamamoto, Kazuhiro Ogata

JOURNAL OF MOLECULAR BIOLOGY 427(8) 1655-1669 2015年4月
A Novel Allosteric Mechanism on Protein-DNA Interactions underlying the Phosphorylation-Dependent Regulation of Ets1 Target Gene Expressions

Masaaki Shiina, Keisuke Hamada, Taiko Inoue-Bungo, Mariko Shimamura, Akiko Uchiyama, Shiho Baba, Ko Sato, Masaki Yamamoto, Kazuhiro Ogata

JOURNAL OF MOLECULAR BIOLOGY 427(8) 1655-1669 2015年4月
Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder

Noboru Imai, Noriko Miyake, Yoshiaki Saito, Emiko Kobayashi, Masako Ikawa, Shinya Manaka, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto

JOURNAL OF HEADACHE AND PAIN 16 1-9 2015年4月
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

Hiroshi Doi, Masao Ushiyama, Takashi Baba, Katsuko Tani, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Yoko Fukuda-Yuzawa, Shoji Tsuji, Mitsuko Nakashima …

SCIENTIFIC REPORTS 4 2014年11月
Crystallization of the Ets1-Runx1-CBFβ-DNA complex formed on the TCRα gene enhancer

Masaaki Shiina, Keisuke Hamada, Taiko Inoue-Bungo, Mariko Shimamura, Shiho Baba, Ko Sato, Kazuhiro Ogata

Acta Crystallographica Section F:Structural Biology Communications 70 1380-1384 2014年10月
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

Satoko Miyatake, Eriko Koshimizu, Yukiko K. Hayashi, Kazushi Miya, Masaaki Shiina, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata …

NEUROMUSCULAR DISORDERS 24(7) 642-647 2014年7月
De novo SOX11 mutations cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, Shubha Phadke, Ikuyo Kou, Masaaki Shiina, Toshifumi Suzuki, Nobuhiko Okamoto, Shintaro Imamura, Michiaki Yamashita …

NATURE COMMUNICATIONS 5 2014年6月
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

Satoko Miyatake, Hitoshi Osaka, Masaaki Shiina, Masayuki Sasaki, Jun-ichi Takanashi, Kazuhiro Haginoya, Takahito Wada, Masafumi Morimoto, Naoki Ando, Yoji Ikuta …

NEUROLOGY 82(24) 2230-2237 2014年6月
Single Strain Isolation Method for Cell Culture-Adapted Hepatitis C Virus by End-Point Dilution and Infection

Nao Sugiyama, Asako Murayama, Ryosuke Suzuki, Noriyuki Watanabe, Masaaki Shiina, T. Jake Liang, Takaji Wakita, Takanobu Kato

PLOS ONE 9(5) e98168 2014年5月査読有り
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

Eri Imagawa, Hitoshi Osaka, Akio Yamashita, Masaaki Shiina, Eihiko Takahashi, Hideo Sugie, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Kazuhiro Ogata …

HUMAN GENETICS 133(2) 225-234 2014年2月

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