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收藏分享 收藏 A novel molecular target, superoxide dismutase 1, in ALK inhibitor-resistant lung cancer cells, detected through proteomic analysis通过蛋白质组学分析在ALK抑制剂耐药的肺癌细胞中检测到一个新的分子靶标，超氧化物歧化酶1
Miyake, Noriko; Ochi, Nobuaki; Takeyama, Masami; Isozaki, Hideko; Ichihara, Eiki; Yamane, Hiromichi; Fukazawa, Takuya; Nagasaki, Yasunari; Kawahara, Tatsuyuki; Nakanishi, Hidekazu; Hiraki, Akio; Kiura, Katsuyuki; Takigawa, Nagio 分享 收藏 Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltZFX的变异与X连锁神经发育障碍相关，并伴有复发性面部格式塔Shepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renee; Clayton-Smith, Jill; Crawford, Ali; Duno, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Kesh, Leila Amel Riazat; Kury, Sebastien; Lecoquierre, Francois; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Nemeth, Andrea H.; Ostergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan 分享 收藏 Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum全外显子组测序揭示了分子阴性beckwist-wiedemann谱中几种过度生长综合征的致病遗传变异Higashimoto, Ken; Sun, Feifei; Imagawa, Eri; Saida, Ken; Miyake, Noriko; Hara, Satoshi; Yatsuki, Hitomi; Kubiura-Ichimaru, Musashi; Fujita, Atsushi; Mizuguchi, Takeshi; Matsumoto, Naomichi; Soejima, Hidenobu 分享 收藏 A NOVEL MOLECULAR TARGET, SUPEROXIDE DISMUTASE 1, IN ALK INHIBITOR-RESISTANT LUNG CANCER, DETECTED THROUGH PROTEOMIC ANALYSISTakigawa, Nagio; Miyake, Noriko; Ochi, Nobuaki; Takeyama, Masami; Isozaki, Hideko; Ichihara, Eiki; Nakanishi, Hidekazu; Yamane, Hiromichi; Kiura, Katsuyuki 分享 收藏 Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humansGuo, Long; Salian, Smrithi; Xue, Jing-yi; Rath, Nicola; Rousseau, Justine; Kim, Hyunyun; Ehresmann, Sophie; Moosa, Shahida; Nakagawa, Norio; Kuroda, Hiroshi; Clayton-Smith, Jill; Wang, Juan; Wang, Zheng; Banka, Siddharth; Jackson, Adam; Zhang, Yan-min; Wei, Zhen-jie; Huening, Irina; Brunet, Theresa; Ohashi, Hirofumi; Thomas, Molly F.; Bupp, Caleb; Miyake, Noriko; Matsumoto, Naomichi; Mendoza-Londono, Roberto; Costain, Gregory; Hahn, Gabriele; Donato, Nataliya Di; Yigit, Goekhan; Yamada, Takahiro; Nishimura, Gen; Ansel, K. Mark; Wollnik, Bernd; de Angelis, Martin Hrabe; Megarbane, Andre; Rosenfeld, Jill A.; Heissmeyer, Vigo; Ikegawa, Shiro; Campeau, Philippe M. 分享 收藏 An integrated genetic analysis of epileptogenic brain malformed lesionsFujita, Atsushi; Kato, Mitsuhiro; Sugano, Hidenori; Iimura, Yasushi; Suzuki, Hiroharu; Tohyama, Jun; Fukuda, Masafumi; Ito, Yosuke; Baba, Shimpei; Okanishi, Tohru; Enoki, Hideo; Fujimoto, Ayataka; Yamamoto, Akiyo; Kawamura, Kentaro; Kato, Shinsuke; Honda, Ryoko; Ono, Tomonori; Shiraishi, Hideaki; Egawa, Kiyoshi; Shirai, Kentaro; Yamamoto, Shinji; Hayakawa, Itaru; Kawawaki, Hisashi; Saida, Ken; Tsuchida, Naomi; Uchiyama, Yuri; Hamanaka, Kohei; Miyatake, Satoko; Mizuguchi, Takeshi; Nakashima, Mitsuko; Saitsu, Hirotomo; Miyake, Noriko; Kakita, Akiyoshi; Matsumoto, Naomichi 分享 收藏 The complexity of EGFR exon 19 deletion and L858R mutant cells as assessed by proteomics, transcriptomics, and metabolomicsOchi, Nobuaki; Takeyama, Masami; Miyake, Noriko; Fuchigami, Maki; Yamane, Hiromichi; Fukazawa, Takuya; Nagasaki, Yasunari; Kawahara, Tatsuyuki; Nakanishi, Hidekazu; Takigawa, Nagio 分享 收藏 A novel NONO variant that causes developmental delay and cardiac phenotypesItai, Toshiyuki; Sugie, Atsushi; Nitta, Yohei; Maki, Ryuto; Suzuki, Takashi; Shinkai, Yoichi; Watanabe, Yoshihiro; Nakano, Yusuke; Ichikawa, Kazushi; Okamoto, Nobuhiko; Utsuno, Yasuhiro; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Uchiyama, Yuri; Tsuchida, Naomi; Miyake, Noriko; Misawa, Kazuharu; Mizuguchi, Takeshi; Miyatake, Satoko; Matsumoto, Naomichi 分享 收藏 Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsSaida, Ken; Marootain, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T.; Marafi, Dana; Zaki, Maha S.; O'Brian, Thomas J.; Karimiani, Ehsan Ghayoor; Kaiyrzhanov, Rauan; Takizawa, Marina; Ohori, Sachiko; Leong, Huey Yin; Akay, Gulsen; Galehdari, Hamid; Zamani, Mina; Romy, Ratna; Carroll, Christopher J.; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Malek, Hadis; Ahangari, Najmeh; Tomoum, Hoda; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Murphy, David; Dominik, Natalia; Elbendary, Hasnaa M.; Rafat, Karima; Yilmaz, Sanem; Kanmaz, Seda; Serin, Mine; Krishnakumar, Deepa; Gardham, Alice; Maw, Anna; Rao, Tekki Sreenivasa; Alsubhi, Sarah; Srour, Myriam; Buhas, Daniela; Jewett, Tamison; Goldberg, Rachel E.; Shamseldin, Hanan; Frengen, Eirik; Misceo, Doriana; Stromme, Petter; Ceroni, Jose Ricardo Magliocco; Kim, Chong Ae; Yesil, Gozde; Sengenc, Esma; Guler, Serhat; Hull, Mariam; Parnes, Mered; Aktas, Dilek; Anlar, Banu; Bayram, Yavuz; Pehlivan, Davut; Posey, Jennifer E.; Alayi, Shahryar; Manshadi, Seyed Ali Madani; Alzaidan, Hamad; Al-Owain, Mohammad; Alabdi, Lama; Abdulwahab, Ferdous; Sekiguchi, Futoshi; Hamanaka, Kohei; Fujita, Atsushi; Uchiyama, Yuri; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Elshafie, Reem M.; Salayev, Kamran; Guliyeva, Ulviyya; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Monaghan, Kristin G.; Langley, Katherine G.; Yang, Hui; Motavaf, Mahsa; Safari, Saeid; Alipour, Mozhgan; Ogata, Kazuhiro; Brown, Andre E. X.; Lupski, James R.; Houlden, Henry; Matsumoto, Naomichi 分享 收藏 Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy儿童小脑发育不全和萎缩的遗传和临床景观Sakamoto, Masamune; Iwama, Kazuhiro; Sasaki, Masayuki; Ishiyama, Akihiko; Komaki, Hirofumi; Saito, Takashi; Takeshita, Eri; Shimizu-Motohashi, Yuko; Haginoya, Kazuhiro; Kobayashi, Tomoko; Goto, Tomohide; Tsuyusaki, Yu; Iai, Mizue; Kurosawa, Kenji; Osaka, Hitoshi; Tohyama, Jun; Kobayashi, Yu; Okamoto, Nobuhiko; Suzuki, Yume; Kumada, Satoko; Inoue, Kenji; Mashimo, Hideaki; Arisaka, Atsuko; Kuki, Ichiro; Saijo, Harumi; Yokochi, Kenji; Kato, Mitsuhiro; Inaba, Yuji; Gomi, Yuko; Saitoh, Shinji; Shirai, Kentaro; Morimoto, Masafumi; Izumi, Yuishin; Watanabe, Yoriko; Nagamitsu, Shin-ichiro; Sakai, Yasunari; Fukumura, Shinobu; Muramatsu, Kazuhiro; Ogata, Tomomi; Yamada, Keitaro; Ishigaki, Keiko; Hirasawa, Kyoko; Shimoda, Konomi; Akasaka, Manami; Kohashi, Kosuke; Sakakibara, Takafumi; Ikuno, Masashi; Sugino, Noriko; Yonekawa, Takahiro; Gursoy, Semra; Cinleti, Tayfun; Kim, Chong Ae; Teik, Keng Wee; Yan, Chan Mei; Haniffa, Muzhirah; Ohba, Chihiro; Ito, Shuuichi; Saitsu, Hirotomo; Saida, Ken; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Misawa, Kazuharu; Miyatake, Satoko; Mizuguchi, Takeshi; Miyake, Noriko; Matsumoto, Naomichi 分享 收藏 分享 收藏 Monogenic causes of pigmentary mosaicismSaida, Ken; Chong, Pin Fee; Yamaguchi, Asuka; Saito, Naka; Ikehara, Hajime; Koshimizu, Eriko; Miyata, Rie; Ishiko, Akira; Nakamura, Kazuyuki; Ohnishi, Hidenori; Fujioka, Kei; Sakakibara, Takafumi; Asada, Hideo; Ogawa, Kohei; Kudo, Kyoko; Ohashi, Eri; Kawai, Michiko; Abe, Yuichi; Tsuchida, Naomi; Uchiyama, Yuri; Hamanaka, Kohei; Fujita, Atsushi; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Kato, Mitsuhiro; Kira, Ryutaro; Matsumoto, Naomichi 分享 收藏 Sirolimus for epileptic seizures associated with focal cortical dysplasia type IIKato, Mitsuhiro; Kada, Akiko; Shiraishi, Hideaki; Tohyama, Jun; Nakagawa, Eiji; Takahashi, Yukitoshi; Akiyama, Tomoyuki; Kakita, Akiyoshi; Miyake, Noriko; Fujita, Atsushi; Saito, Akiko M.; Inoue, Yushi 分享 收藏 Targeting ROR1 in combination with osimertinib in EGFR mutant lung cancer cells靶向ROR1联合奥希替尼治疗EGFR突变肺癌细胞Nakagawa, Nozomu; Miyake, Noriko; Ochi, Nobuaki; Yamane, Hiromichi; Takeyama, Masami; Nagasaki, Yasunari; Ikeda, Tomoko; Yokota, Etsuko; Fukazawa, Takuya; Nakanishi, Hidekazu; Harada, Daijiro; Kiura, Katsuyuki; Takigawa, Nagio 分享 收藏 Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R.; Slavotinek, Anne; Voermans, Nicol C.; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J.; Jayakar, Parul; Gahl, William A.; Tifft, Cynthia J.; Figuera, Luis E.; Hilhorst-Hofstee, Yvonne; Maugeri, Alessandra; Ishikawa, Ken; Kobayashi, Tomoko; Aoki, Yoko; Ohura, Toshihiro; Kawame, Hiroshi; Kono, Michihiro; Mochida, Kosuke; Tokorodani, Chiho; Kikkawa, Kiyoshi; Morisaki, Takayuki; Kobayashi, Tetsuyuki; Nakane, Takaya; Kubo, Akiharu; Ranells, Judith D.; Migita, Ohsuke; Sobey, Glenda; Kaur, Anupriya; Ishikawa, Masumi; Yamaguchi, Tomomi; Matsumoto, Naomichi; Malfait, Fransiska; Miyake, Noriko; Kosho, Tomoki 分享 收藏 SLC4A2 Deficiency Causes a New Type of OsteopetrosisXue, Jing-Yi; Grigelioniene, Giedre; Wang, Zheng; Nishimura, Gen; Iida, Aritoshi; Matsumoto, Naomichi; Tham, Emma; Miyake, Noriko; Ikegawa, Shiro; Guo, Long 分享 收藏 分享 收藏 De novo ARF3 variants cause neurodevelopmental disorder with brain abnormalitySakamoto, Masamune; Sasaki, Kazunori; Sugie, Atsushi; Nitta, Yohei; Kimura, Tetsuaki; Gursoy, Semra; Cinleti, Tayfun; Iai, Mizue; Sengoku, Toru; Ogata, Kazuhiro; Suzuki, Atsushi; Okamoto, Nobuhiko; Iwama, Kazuhiro; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Miyatake, Satoko; Mizuguchi, Takeshi; Taguri, Masataka; Ito, Shuuichi; Takahashi, Hidehisa; Miyake, Noriko; Matsumoto, Naomichi 分享 收藏 
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