Søgeresultater - Kazuyuki Nakamura

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  1. 1
    PI3K inhibitor LY294002, as opposed to wortmannin, enhances AKT phosphorylation in gemcitabine-resistant pancreatic cancer cells

    PI3K inhibitor LY294002, as opposed to wortmannin, enhances AKT phosphorylation in gemcitabine-resistant pancreatic cancer cells af Yufeng Wang, Yasuhiro Kuramitsu, Byron Baron, Takao Kitagawa, Kazuhiro Tokuda, Junko Akada, Shin‐ichiro Maehara, Yoshihiko Maehara, Kazuyuki Nakamura

    Udgivet 2016
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    Artigo
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  2. 2
    Proteomics finding heat shock protein 27 as a biomarker for resistance of pancreatic cancer cells to gemcitabine

    Proteomics finding heat shock protein 27 as a biomarker for resistance of pancreatic cancer cells to gemcitabine af Sayaka Mori-Iwamoto, Yasuhiro Kuramitsu, Shomei Ryozawa, Kuniko Mikuria, Masanori Fujimoto, Shin‐ichiro Maehara, Y. Maehara, Kiwamu Okita, Kazuyuki Nakamura, Isao Sakaida

    Udgivet 2007
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  3. 3
    <i><scp>PIGO</scp></i> mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

    <i><scp>PIGO</scp></i> mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels af Kazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, Rie Anzai, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Taroh Kinoshita, Naomichi Matsumoto, Hirotomo Saitsu

    Udgivet 2014
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    Artigo
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  4. 4
    Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

    Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency af Karin Kojima, Takeshi Nakajima, Naoyuki Taga, Akihiko Miyauchi, Mitsuhiro Kato, Ayumi Matsumoto, Takahiro Ikeda, Kazuyuki Nakamura, Tetsuo Kubota, Hiroaki Mizukami, Sayaka Ono, Y. Onuki, Toshihiko Satō, Hitoshi Osaka, Shin‐ichi Muramatsu, Takanori Yamagata

    Udgivet 2018
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  5. 5
    De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

    De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy af Hirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, Yoshihiro Maegaki, Kazuhiro Haginoya, Shuji Mizumoto, Mitsuhiro Kato, Nobuhiko Okamoto, Mizue Iai, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Kiyoshi Hayasaka, Kazuyuki Sugahara, Isao Yuasa, Yoshinao Wada, Naomichi Matsumoto, Hirotomo Saitsu

    Udgivet 2013
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  6. 6
    Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

    Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay af 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

    Udgivet 2015
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  7. 7
    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia af Periklis Makrythanasis, Mitsuhiro Kato, Maha S. Zaki, Hirotomo Saitsu, Kazuyuki Nakamura, Federico Santoni, Satoko Miyatake, Mitsuko Nakashima, Mahmoud Y. Issa, Michel Guipponi, Audrey Letourneau, Clare V. Logan, Nicola Roberts, David Parry, Colin A. Johnson, Naomichi Matsumoto, Hanan Hamamy, Eamonn Sheridan, Taroh Kinoshita, Stylianos E. Antonarakis, Yoshiko Murakami

    Udgivet 2016
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  8. 8
    De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

    De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy af Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, Masaaki Shiina, Mitsuhiro Kato, Hideki Hoshino, Hiroshi Terashima, Hitoshi Osaka, Shinichi Nakamura, Jun Tohyama, Tatsuro Kumada, T Furukawa, Satomi Iwata, Takashi Shiihara, Masaya Kubota, Satoko Miyatake, Eriko Koshimizu, Kiyomi Nishiyama, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Kiyoshi Hayasaka, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu

    Udgivet 2013
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  9. 9
    Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation

    Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation af Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota, Hiroshi Arai, Sumimasa Yamashita, Taku Nakagawa, Takanari Fujii, Kenji Sugai, Kaoru S. Imai, Tami Uster, David Chitayat, Shelly K. Weiss, Hirofumi Kashii, Ryosuke Kusano, Ayumi Matsumoto, Kazuyuki Nakamura, Yoshinobu Oyazato, Mari Maeno, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Kayoko Saito, Kiyoshi Hayasaka, Naomichi Matsumoto, Hirotomo Saitsu

    Udgivet 2013
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  10. 10
    Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

    Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy af Hirofumi Kodera, Mitsuhiro Kato, Alex S. Nord, Tom Walsh, Ming Lee, Gaku Yamanaka, Jun Tohyama, Kazuyuki Nakamura, Eiji Nakagawa, Tae Ikeda, Bruria Ben‐Zeev, Dorit Lev, Tally Lerman‐Sagie, Rachel Straussberg, Saori Tanabe, Kazutoshi Ueda, Masano Amamoto, Sayaka Ohta, Yutaka Nonoda, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Kiyoshi Hayasaka, Mary‐Claire King, Naomichi Matsumoto, Hirotomo Saitsu

    Udgivet 2013
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  11. 11
    Comparison of the methods for profiling glycoprotein glycans—HUPO Human Disease Glycomics/Proteome Initiative multi-institutional study

    Comparison of the methods for profiling glycoprotein glycans—HUPO Human Disease Glycomics/Proteome Initiative multi-institutional study af Yoshinao Wada, Parastoo Azadi, Catherine E. Costello, Anne Dell, Raymond A. Dwek, Hildegard Geyer, Rudolf Geyer, Kazuaki Kakehi, Niclas G. Karlsson, Koichi Kato, Nana Kawasaki, Kay‐Hooi Khoo, Soohyun Kim, Akihiro Kondo, Erika Lattová, Yehia Mechref, Eiji Miyoshi, Kazuyuki Nakamura, Hisashi Narimatsu, Miloš V. Novotný, Nicolle H. Packer, Hélène Perreault, Jasna Peter‐Katalinić, Gottfried Pohlentz, Vernon N. Reinhold, Pauline M. Rudd, Akemi Suzuki, Naoyuki Taniguchi

    Udgivet 2007
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  12. 12
    Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

    Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder af Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto

    Udgivet 2018
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    Artigo
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  13. 13
    Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

    Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy af Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun‐ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

    Udgivet 2019
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  14. 14
    Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study

    Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study af Mariko Kasai, Hiroshi Sakuma, Yuichi Abe, Ichiro Kuki, Yoshihiro Maegaki, Kei Murayama, Yuka Murofushi, Hiroaki Nagase, Masahiro Nishiyama, Akihisa Okumura, Yasunari Sakai, Hiroko Tada, Masashi Mizuguchi, Jun‐ichi Takanashi, Satoshi Akamine, Pin Fee Chong, Tatsuya Ema, Sayaka Enomoto, Ryohei Fukatsu, Yoshiyuki Hanaoka, Ayuko Igarashi, Tae Ikeda, Kouhei Ishida, Nobutsune Ishikawa, Shinji Itamura, Hideyuki Iwayama, Nanako Kawata, Go Kawano, Kenjiro Kikuchi, Osamu Kobayashi, H. Kondo, Seigo Korematsu, Tsuyoshi Matsuoka, Yuki Minamisawa, Osamu Mitani, Kanako Mizuma, Tatsuo Mori, Shinichiro Morıchı, Yoko Moriyama, Mitsuo Motobayashi, Hirotaka Motoi, Kazuhiro Muramatsu, Kazuyuki Nakamura, Tomoyuki Nakazawa, Yutaka Negishi, Yuka Nishizawa, Hiroshi Okada, Kazuo Okanari, Keisuke Oki, Yoshinori Okumura, Taku Omata, Saki Saeki, Fumikazu Sano, Kentaro Sano, Tatsuharu Sato, Takashi Shiihara, Konomi Shimoda, Motomasa Suzuki, Ryuta Tanaka, Chiho Tokorodani, Mitsugu Uematsu, Hiroyuki Yamada, Naohiro Yamamoto, Tatsuya Yamamoto, Haruna Yokoyama

    Udgivet 2024
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  15. 15
    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly af Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Mónica Furlano, Ida Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer Hu, Anne‐Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won‐Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, M. Bruce, Gaik-Siew Ch’ng, Shuan‐Pei Lin, Jui-Hsing Chang, Chao‐Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly‐Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca O. Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Özaltın, Marleen Praet, Chitra Prasad, Agnieszka Prytula-Ebels, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman, Kenza Soulami, David A. Sweetser, Wen‐Hui Tsai, Jeng-Daw Tsai, Rezan Topaloĝlu, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Klaas J. Wierenga, Matthias T. F. Wolf, Sik-Nin Wong, Sebastian A. Leidel, Gessica Truglio, Peter C. Dedon, Annapurna Poduri, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Pekka Kannus, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker

    Udgivet 2017
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