Search Results - Akira Kinoshita

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  1. 1
    Basic Fibroblast Growth Factor Prevents Thalamic Degeneration after Cortical Infarction

    Basic Fibroblast Growth Factor Prevents Thalamic Degeneration after Cortical Infarction by Kazuo Yamada, Akira Kinoshita, Eiji Kohmura, Tateo Sakaguchi, Junji Taguchi, Kazuo Kataoka, Tõru Hayakawa

    Published 1991
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  2. 2
    Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

    Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion by Remco Visser, Osamu Shimokawa, Naoki Harada, Akira Kinoshita, Tohru Ohta, Norio Niikawa, Naomichi Matsumoto

    Published 2004
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  3. 3
    Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma

    Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma by Kiyonori Miura, Shoko Miura, Kentaro Yamasaki, Ai Higashijima, Akira Kinoshita, Koh-ichiro Yoshiura, Hideaki Masuzaki

    Published 2010
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  4. 4
    Domain-specific Mutations of a Transforming Growth Factor (TGF)-β1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-β1

    Domain-specific Mutations of a Transforming Growth Factor (TGF)-β1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active F... by Takashi Saito, Akira Kinoshita, Koh-ichiro Yoshiura, Yoshio Makita, Keiko Wakui, Koichi Honke, Norio Niikawa, Naoyuki Taniguchi

    Published 2001
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  5. 5
    A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway

    A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway by Yukio Watanabe, Akira Kinoshita, Takahiro Yamada, Tohru Ohta, Tatsuya Kishino, Naomichi Matsumoto, Mutsuo Ishikawa, N Niikawa, K. Yoshiura

    Published 2002
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  6. 6
    Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

    Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome by Yuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, Masakazu Miyajima, Masataka Taguri, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Hiroyuki Mishima, Akira Kinoshita, Hajime Arai, Ko–ichiro Yoshiura, Naomichi Matsumoto

    Published 2016
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  7. 7
    Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

    Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome by Yuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, Masakazu Miyajima, Masataka Taguri, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Hiroyuki Mishima, Akira Kinoshita, Hajime Arai, Ko–ichiro Yoshiura, Naomichi Matsumoto

    Published 2017
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  8. 8
    Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

    Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6) by Christopher R. Ingraham, Akira Kinoshita, Shinji Kondo, Baoli Yang, Samin A. Sajan, Kurt J Trout, Margaret Malik, Martine Dunnwald, Stephen L Goudy, Michael Lovett, Jeffrey C. Murray, Brian C. Schutte

    Published 2006
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  9. 9
    Nonsense mutation in <i>CFAP43</i> causes normal-pressure hydrocephalus with ciliary abnormalities

    Nonsense mutation in <i>CFAP43</i> causes normal-pressure hydrocephalus with ciliary abnormalities by Yoshiro Morimoto, Shintaro Yoshida, Akira Kinoshita, Chisei Satoh, Hiroyuki Mishima, Naohiro Yamaguchi, Katsuya Matsuda, Miako Sakaguchi, Takeshi Tanaka, Yoshihiro Komohara, Akira Imamura, Hiroki Ozawa, Masahiro Nakashima, Naohiro Kurotaki, Tatsuya Kishino, Koh-ichiro Yoshiura, Shinji Ono

    Published 2019
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  10. 10
    Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred

    Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred by Shinji Ono, Takahiro Tanaka, Masaki Ishida, Akira Kinoshita, Junya Fukuoka, Masahiro Takaki, Noriho Sakamoto, Yuji Ishimatsu, S Kohno, Tomayoshi Hayashi, M Senba, Michio Yasunami, Yoshinao Kubo, Lay‐Myint Yoshida, Hiroshi Kubo, Koya Ariyoshi, Koh-ichiro Yoshiura, Konosuke Morimoto

    Published 2011
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  11. 11
    Genomic strategy identifies a missense mutation in <i>WD‐repeat domain 65</i> (<i>WDR65</i>) in an individual with Van der Woude syndrome

    Genomic strategy identifies a missense mutation in <i>WD‐repeat domain 65</i> (<i>WDR65</i>) in an individual with Van der Woude syndrome by Nicholas K. Rorick, Akira Kinoshita, Jason L. Weirather, Myriam Peyrard‐Janvid, Renata Lúcia Leite Ferreira de Lima, Martine Dunnwald, Alan Shanske, Danilo Moretti‐Ferreira, Hannele Koillinen, Juha Kere, M. Adela Mansilla, Jeffrey C. Murray, Steve Goudy, Brian C. Schutte

    Published 2011
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  12. 12
    Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

    Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions by Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita, Taeko Kikuchi, Yoshibumi Nakane, Nobumasa Kato, Miyuki Sadamatsu, Tohru Konishi, Shinichiro Nagamitsu, Masato Matsuura, Ayako Yasuda, Maki Komine, Kazuaki Kanai, Takeshi Inoue, Toshio Osamura, Kayoko Saito, Shinichi Hirose, Hiroyoshi Koide, Hiroaki Tomita, Hiroki Ozawa, Norio Niikawa, Naohiro Kurotaki

    Published 2012
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  13. 13
    Heterozygous TGFBR2 mutations in Marfan syndrome

    Heterozygous TGFBR2 mutations in Marfan syndrome by Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama, Marianne Abifadel, Naoki Harada, Takayuki Morisaki, Delphine Allard, Mathilde Varret, Mireille Claustres, Hiroko Morisaki, Makoto Ihara, Akira Kinoshita, Koh-ichiro Yoshiura, Claudine Junien, Tadashi Kajii, Guillaume Jondeau, Tohru Ohta, Tatsuya Kishino, Yoichi Furukawa, Yusuke Nakamura, Norio Niikawa, Cathérine Boileau, Naomichi Matsumoto

    Published 2004
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  14. 14
    Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

    Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair by Yuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake, Michiko Matsuse, Mayuko Shimada, Tiziana Nardò, Yoshito Takahashi, Kaname Ohyama, Kosei Ito, Hiroyuki Mishima, Masayo Nomura, Akira Kinoshita, Shinji Ono, Katsuya Takenaka, Ritsuko Masuyama, Takashi Kudo, Hanoch Slor, Atsushi Utani, Satoshi Tateishi, Shunichi Yamashita, Miria Stefanini, Alan R. Lehmann, Koh-ichiro Yoshiura, Tomoo Ogi

    Published 2012
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  15. 15
    Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

    Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome by Kazuhiko Arima, Akira Kinoshita, Hiroyuki Mishima, Nobuo Kanazawa, Takeumi Kaneko, Tsunehiro Mizushima, Kunihiro Ichinose, Hideki Nakamura, Akira Tsujino, Atsushi Kawakami, Masahiro Matsunaka, Shimpei Kasagi, Seiji Kawano, Shunichi Kumagai, Koichiro Ohmura, Tsuneyo Mimori, Makito Hirano, Satoshi Ueno, Keiko Tanaka, Masami Tanaka, Itaru Toyoshima, Hirotoshi Sugino, A. Yamakawa, Keiji Tanaka, Norio Niikawa, Fukumi Furukawa, Shigeo Murata, Katsumi Eguchi, Hiroaki Ida, Koh-ichiro Yoshiura

    Published 2011
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