検索結果 859 件

長谷川 三希子, 塚本 栞, 齋藤 潤孝, 北島 翼, 井上 建, 大谷 良子, 荒川 玲子, 作田 亮一, 齋藤 加代子, 上條 義一郎 小児理学療法学 2 (Supplement_1), 76-76, 2024-03-31

...それから③ <i>SMN2</i> コピー数 (2/３コピー)でマイルストーンの獲得率を比較した。...

DOI

味岡 祐美, 藪本 保, 藤井 浩史 小児理学療法学 2 (Supplement_1), 74-74, 2024-03-31

...</p> <p>【方法および症例報告】</p> <p> 本症例は現在1歳11ヶ月の女児で，在胎39週2日，2790gで出 生した．1ヶ月健診で筋緊張低下を指摘され，検査にてSMA I型(SMN1 0copy, SMN2 2copy)と診断された．生後1ヶ月26日にヌシネルセン，2ヶ月9日にオナセムノゲン アベパルボベクの治療が行われた．CHOP INTENDは治療前21点，治療後25...

DOI

塚本 栞, 長谷川 三希子, 齋藤 潤孝, 北島 翼, 井上 建, 大谷 良子, 村上 信行, 作田 亮一, 上條 義一郎 小児理学療法学 2 (Supplement_1), 75-75, 2024-03-31

...10ヶ月で筋緊張低下が認められ、1歳0か月に SMAⅠ型( <i>SMN1</i> 0コピー/ <i>SMN2</i> 3コピー)と診断、1歳1か月にオナセムノゲンアベパルボベクが投与された。 遺伝子治療を行った本児に対して、運動機能における姿勢保持 ・姿勢変換・移動に関して経過をまとめた。3年の経過を、治療前を治療前期、治療-1年を1期、1-2年を2期、2-3年を3期とした。...

DOI

MIYAMOTO Nao, SAKAUE Yusuke, SHIOZAWA Naruhiro Advanced Biomedical Engineering 13 (0), 82-89, 2024

...BP was significantly lower following both SMN and SPPN. In SMN, an immediate decrease in HR and an increase in SBF were observed....

DOI Web Site

齋藤 加代子 東京女子医科大学雑誌 93 (3), 75-81, 2023-06-25

...from the <i>SMN2</i> gene....

DOI

Takuya Ishida, Yuko Nakamura, Saori C Tanaka, Yuki Mitsuyama, Satoshi Yokoyama, Hotaka Shinzato, Eri Itai, Go Okada, Yuko Kobayashi, Takahiko Kawashima, Jun Miyata, Yujiro Yoshihara, Hidehiko Takahashi, Susumu Morita, Shintaro Kawakami, Osamu Abe, Naohiro Okada, Akira Kunimatsu, Ayumu Yamashita, Okito Yamashita, Hiroshi Imamizu, Jun Morimoto, Yasumasa Okamoto, Toshiya Murai, Kiyoto Kasai, Mitsuo Kawato, Shinsuke Koike Schizophrenia Bulletin 49 (4), 933-943, 2023-03-09

...Furthermore, increased causal connections from LIN to multiple networks, aberrant self-inhibitory connections of DAN and SMN, and increased self-inhibitory connection of SAN were disorder-specific patterns...

DOI PDF 参考文献89件

Satoshi Yamashita, Akihito Nagatoshi, Yosuke Takeuchi, Ichizo Nishino, Mitsuharu Ueda Neuropathology 43 (5), 408-412, 2023-03-02

...copies of <jats:italic>SMN2</jats:italic> exon 7....

DOI Web Site Web Site 参考文献10件

池中, 亮裕, 北川, 瑶子, 吉田, 路子, Lin, Chuang-Yu, 丹羽, 明, 中畑, 龍俊, 齋藤, 潤 Life Science Alliance 6 (3), e202201457-, 2023-03

...the SMN-miR axis is essential for myogenic metabolic maturation....

DOI HANDLE Web Site 参考文献58件

Sachiko Kato, Satoshi Maesawa, Epifanio Bagarinao, Daisuke Nakatsubo, Takahiko Tsugawa, Satomi Mizuno, Kazuya Kawabata, Takashi Tsuboi, Masashi Suzuki, Masashi Shibata, Sou Takai, Tomotaka Ishizaki, Jun Torii, Manabu Mutoh, Ryuta Saito, Toshihiko Wakabayashi, Masahisa Katsuno, Norio Ozaki, Hirohisa Watanabe, Gen Sobue Journal of Neurosurgery 138 (2), 306-317, 2023-02-01

...The decrease in FC in the SMN correlated with the severity of tremor....

DOI XML XML 参考文献45件

Carmelo Gurnari, Simona Pagliuca, Pedro Henrique Prata, Jacques-Emmanuel Galimard, Luiz Fernando B. Catto, Lise Larcher, Marie Sebert, Vincent Allain, Bhumika J. Patel, Arda Durmaz, Andre L. Pinto, Mariana C.B. Inacio, Lucie Hernandez, Nathalie Dhedin, Sophie Caillat-Zucman, Emmanuelle Clappier, Flore Sicre de Fontbrune, Maria Teresa Voso, Valeria Visconte, Régis Peffault de Latour, Jean Soulier, Rodrigo T. Calado, Gérard Socié, Jaroslaw P. Maciejewski Journal of Clinical Oncology 41 (1), 132-142, 2023-01-01

...The elapsed time from AA to sMN was 4.5 years. sMN developed in 94 patients. The 5-year overall survival reached 40% and was independently associated with bone marrow blasts at sMN onset....

DOI Web Site 被引用文献1件

粟野 宏之 日本臨床薬理学会学術総会抄録集 44 (0), 2-C-S29-2-, 2023

...SMAはSMN1遺伝子異常によって発症する下位運動ニューロン病で、進行性の筋力低下を主症状とする。生直後から症状があり生存が困難な最重症型（0型）から、成人になり症状を認める成人型（4型）まで5つの臨床型に分類される。SMAの疾患特異的治療薬として2017年にスピンラザが発売されたことを皮切りに、2020年にはゾルゲンスマ、2021年にはエブリスディが発売され、3種類の薬剤が臨床で使用可能である。...

DOI

萩原 正敏 日本毒性学会学術年会 50.1 (0), AWL1-, 2023

<p>　人類は7,000以上の遺伝病に罹患し約35%が異常なRNAスプライシングを伴う。そこで我々は、薬剤で遺伝子発現パターンを変化させることにより先天性の難病を治すことは可能ではないかと考え、遺伝子発現パターンの変化を生体内で可視化する技術を開発し（<i>Nat Methods</i> 2006, <i>Nat …

DOI

Takano Kozue, Uchiyama Toshitaka, Otsuki Noriko, Nishio Hisahide, Kubo Yuji, Arakawa Reiko, Saito Toshio, Takeshima Yasuhiro, Yuge Kotaro, Ikeda Toshio, Kato Zenichiro, Nakajima Takashi, Saito Kayoko Tokyo Women's Medical University Journal 6 (0), 57-66, 2022-12-20

...</p><p><b>Results: </b>The group with significant improvement showed elevated SMN protein levels following VPA administration, whereas that with the highest SMN levels at baseline did not improve immediately...

DOI 機関リポジトリ HANDLE ほか1件

Kaga, Hajime, Matsumura, Hirotoshi, Suzuki, Takehiro, Dohmae, Naoshi, Odaka, Masafumi, Komatsuda, Atsushi, Takahashi, Naoto, Wakui, Hideki Clinical Proteomics 19 (1), 2022-12

...On the other hand, bucillamine (BCL), an antirheumatic drug developed in Japan, was reported to cause a rare form of secondary MN (sMN)....

機関リポジトリ HANDLE

Noguchi, Yoriko, 坊, 亮輔, 西尾, 久英, Matsumoto, Hisayuki, Matsui, Keiji, 矢野, 嘉彦, Sugawara, Masami, Ueda, Go, Wijaya, Yogik O., Niba, Emma T., 篠原, 正和, Bouike, Yoshihiro, Takeuchi, Atsuko, Okamoto, Kentaro, Saito, Toshio, Shimomura, Hideki, Lee, Tomoko, Takeshima, Yasuhiro, 飯島, 一誠, 野津, 寛大, 粟野, 宏之 Genes 13 (11), 2110-, 2022-11

...Spinal muscular atrophy (SMA) is a common devastating neuromuscular disorder, usually involving homozygous deletion of the SMN1 gene....

DOI HANDLE Web Site 参考文献45件

Takahiko Ogihara, Kensuke Tanioka, Tomoyuki Hiroyasu, Satoru Hiwa Frontiers in Neuroergonomics 3 2022-07-08

...The results showed that the combinations of the dorsal attention network (DAN)-sensory-motor network (SMN) and DAN-ventral attention network (VAN) connections were common in all clusters and that these...

DOI Web Site 参考文献43件

Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek Nature Medicine 28 (7), 1381-1389, 2022-06-17

...Here, we report final results for 14 children with two copies of<jats:italic>SMN2</jats:italic>, expected to develop spinal muscular atrophy (SMA) type 1....

DOI PDF Web Site 被引用文献5件

Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek Nature Medicine 28 (7), 1390-1397, 2022-06-17

...<jats:title>Abstract</jats:title><jats:p>Most children with biallelic<jats:italic>SMN1</jats:italic>deletions and three<jats:italic>SMN2</jats:italic>copies develop spinal muscular atrophy (SMA) type 2...

DOI PDF Web Site 被引用文献3件

WATANABE Tatsuo, HIRABAYASHI Koichi, MORITA Daisuke, YAMAGUCHI Tomomi, OKURA Eri, MOROKAWA Hirokazu, SAITO Shoji, TANAKA Miyuki, NAKAZAWA Yozo, KOSHO Tomoki 信州医学雑誌 70 (3), 157-167, 2022-06-10

...A questionnaire-based survey was conducted to comprehend the thoughts of CCSs and/or their guardians regarding SMN, clinical sequencing, and SMN surveillance....

DOI 機関リポジトリ HANDLE ほか2件

Oliver Schwartz, Heike Kölbel, Astrid Blaschek, Dieter Gläser, Siegfried Burggraf, Wulf Röschinger, Ulrike Schara, Wolfgang Müller-Felber, Katharina Vill Journal of Neuromuscular Diseases 9 (3), 389-396, 2022-05-06

...However, deficiency of SMN-protein can cause damage of motor neurons even prior to birth....

DOI Web Site 被引用文献2件

Wijaya, Yogik Onky Silvana, Niba, Emma Tabe Eko, 西尾, 久英, Okamoto, Kentaro, 粟野, 宏之, Saito, Toshio, Takeshima, Yasuhiro, 篠原, 正和 Genes 13 (4), 685-, 2022-04

...Spinal muscular atrophy (SMA) is caused by survival motor neuron 1 SMN1 deletion. The survival motor neuron 2 (SMN2) encodes the same protein as SMN1 does, but it has a splicing defect of exon 7....

DOI HANDLE Web Site 参考文献40件

Momoko Takagi, Suzuna Nagai, Hironori Kaminaka, Kazuya Akimitsu, Ken Shirasu, Kazuya Ichimura Plant Signaling & Behavior 17 (1), 2022-03-30

DOI Web Site 参考文献13件

Youxi Yu, Xiaoju Shi, Xingtong Wang, Ping Zhang, Ou Bai, Yan Li Cell & Bioscience 12 (1), 2022-03-12

...and multiple analyses have been published also indicating that some solid tumor survivors develop a secondary lymphoma, whereas some lymphoma survivors subsequently develop a second malignant neoplasm (SMN...

DOI PDF Web Site 被引用文献1件

Linda Gailite, Olga Sterna, Maija Konika, Aleksejs Isakovs, Jekaterina Isakova, Ieva Micule, Signe Setlere, Mikus Diriks, Madara Auzenbaha International Journal of Neonatal Screening 8 (1), 15-, 2022-02-14

...DNA testing for the SMN1 exon 7 homozygous deletion was conducted using qPCR with fluorescent locked nucleic acid primers....

DOI Web Site 被引用文献1件

Misaki Yamadera, Toshio Saito, Masakazu Shinohara, Hisahide Nishio, Shigeo Murayama, Harutoshi Fujimura Neuropathology 42 (2), 141-146, 2022-02-10

...Results of further analyses indicated that the patient had two copies of the genuine SMN gene 2 (<jats:italic>SMN2</jats:italic>) and one copy of a hybrid gene containing <jats:italic>SMN2</jats:italic...

DOI Web Site Web Site 参考文献26件

タベ ニバ エマ, エコ, 西尾, 久英, Wijaya, Yogik Onky Silvana, Ar Rochmah, Mawaddah, Takarada, Toru, Takeuchi, Atsuko, Kimizu, Tomokazu, Okamoto, Kentaro, Saito, Toshio, 粟野, 宏之, Takeshima, Yasuhiro, 篠原, 正和 Genes 13 (2), 205-, 2022-01-24

...full-length SMN2 protein in the patient....

DOI HANDLE Web Site 参考文献43件

Yingqi Zhang, Peng Shi, Michael V. Basin International Journal of Robust and Nonlinear Control 32 (6), 4038-4054, 2022-01-18

...According to the EB method, an SMNS model of network‐induced delay is introduced....

DOI Web Site Web Site ほか1件 被引用文献1件

Norihisa Bizen, Asim K. Bepari, Li Zhou, Manabu Abe, Kenji Sakimura, Katsuhiko Ono, Hirohide Takebayashi Cell Death & Differentiation 29 (5), 1028-1041, 2022-01-01

...italic> conditional knockout (cKO) demonstrated apoptosis and cell cycle arrest in NPCs and OPCs, through the potentiation of the p53 pathway in DNA damage-dependent and independent manners, including SMN...

DOI PDF Web Site 被引用文献2件 参考文献45件

Ran Jingqi, Zhu Yong, Ren Tingyuan, Qin Likang Journal of Oleo Science 71 (5), 631-639, 2022

...<p>Fatty acid profile and thermal stability of 7 varieties <i>zanthoxylum bungeanum</i> (GZF, GDJ, CJJ, SHY, SMN, SJY, GTS) seed oils (ZBO) were studied....

DOI Web Site Web Site ほか1件 参考文献55件

本橋 裕子, 西野 一三 神経治療学 39 (5), 745-748, 2022

...<i>SMN2</i> is paralogous to <i>SMN1</i>, and the copy number of the <i>SMN2</i> is an important determinant of SMA severity....

DOI

渥美 綾香, 米田 智廣, 土田 健, 香川 雄輔, 冨永 俊輔, 川瀬 一穂, 菊地 信孝 日本薬理学雑誌 157 (1), 53-61, 2022

...「SMA（臨床所見は発現していないが，遺伝子検査によりSMAの発症が予測されるものも含む）」を対象に承認された．静脈内に投与された本品は，SMAの根本原因である<i>SMN1</i>遺伝子の機能欠損を補って運動ニューロンの変性・消失を防ぎ，神経及び筋肉の機能を高め，筋萎縮を防ぐことで，SMA患者の生命予後及び運動機能を改善することが期待される．また，導入された<i>SMN</i>遺伝子は患者のゲノム...

DOI Web Site Web Site 参考文献5件

南部 静紀, 粟野 宏之, 坊 亮輔, 洪 聖媛, 西尾 久英, 飯島 一誠 脳と発達 54 (4), 262-265, 2022

...<p> 脊髄性筋萎縮症（spinal muscular atrophy；SMA）は遺伝性の運動ニューロン病で，<i>SMN1</i>遺伝子変異により発症する．SMAは近年の新規治療法の開発の結果，治療可能となった．...

DOI 医中誌

萩原 正敏 日本毒性学会学術年会 49.1 (0), S41-2-, 2022

<p>我々はAIを駆使して全ゲノム配列情報から深部イントロン変異を検出し創薬標的として評価する方法を確立し、従来の薬剤では治療が困難であった疾患に対する治療薬候補物質を続々と見出している。スプライシング変異は遺伝性疾患関連変異として報告されている既知遺伝病関連変異（約２７万種類）のおよそ９％を占めるが、中でも深部イントロン変異に起因する偽エクソン型スプライシング変異が新たな制御形態として注目され…

DOI

佐橋 健太郎, 勝野 雅央 神経治療学 39 (3), 302-305, 2022

...Humans have a closely related <i>SMN2</i>, but it only expresses low levels of SMN protein, due to alternative splicing....

DOI

橋口 昭大 神経治療学 39 (3), 298-301, 2022

...Instead, the <i>SMN2</i> gene produces SMN protein, but when transcribed into mRNA, exon7 is skipped by about 90%, and full–length functional SMN protein is produced by only about 10%....

DOI

川田 洋充 ファルマシア 58 (3), 246-247, 2022

...<br>SMAは，Survival Motor Neuron 1(以下<i>SMN</i>遺伝子の両対立遺伝子の機能喪失変異による常染色体劣性（潜性)遺伝疾患である．ヒトの<i>SMN</i>遺伝子には機能性SMNタンパク質が産生される<i>SMN1</i>遺伝子と，産生されるSMNタンパク質の約90％が不完全長で分解されやすい<i>SMN2</i>遺伝子がある．...

DOI

田中 章景 神経治療学 39 (4), 526-529, 2022

...In SMA patients, SMN protein is produced from the paralogous gene <i>SMN2</i>, but the produced amount of SMN is minimal due to a defect in the splicing process....

DOI

Siiri Sarv, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Kai Muru, Haide Põder, Katrin Gross-Paju, Sandra Ütt, Riina Žordania, Inga Talvik, Eve Õiglane-Shlik, Kristina Muhu, Katrin Õunap Frontiers in Genetics 12 2021-12-22

...<jats:italic>SMN2</jats:italic> copy number was assessed in 51 patients....

DOI Web Site 被引用文献1件

Masanori Yoshida, Kazuhiko Nakabayashi, Wentao Yang, Aiko Sato-Otsubo, Shin-ichi Tsujimoto, Hiroko Ogata-Kawata, Tomoko Kawai, Keisuke Ishiwata, Mika Sakamoto, Kohji Okamura, Kaoru Yoshida, Ryota Shirai, Tomoo Osumi, Takaya Moriyama, Rina Nishii, Hiroyuki Takahashi, Chikako Kiyotani, Yoko Shioda, Keita Terashima, Sae Ishimaru, Yuki Yuza, Masatoshi Takagi, Yuki Arakawa, Akitoshi Kinoshita, Moeko Hino, Toshihiko Imamura, Daisuke Hasegawa, Yozo Nakazawa, Mayuko Okuya, Harumi Kakuda, Nao Takasugi, Akiko Inoue, Kentaro Ohki, Takako Yoshioka, Shuichi Ito, Daisuke Tomizawa, Katsuyoshi Koh, Kimikazu Matsumoto, Masashi Sanada, Nobutaka Kiyokawa, Akira Ohara, Seishi Ogawa, Atsushi Manabe, Akira Niwa, Kenichiro Hata, Jun J. Yang, Motohiro Kato Blood Advances 5 (23), 5420-5428, 2021-12-13

...The 6-MP–related mutational signature was observed in SMN specimens after 6-MP exposure....

DOI PDF 被引用文献1件 参考文献30件

Arlene M D'Silva, Didu S T Kariyawasam, Stephanie Best, Veronica Wiley, Michelle A Farrar Developmental Medicine & Child Neurology 64 (5), 625-632, 2021-11-28

...A severe phenotype was predicted on the basis of two copies of <jats:italic>SMN2</jats:italic> in 57.2% of newborn infants screening positive for SMA....

DOI Web Site Web Site 被引用文献1件

Adam J. Lamble, Regina M. Myers, Agne Taraseviciute, Samuel John, Bonnie Yates, Seth M. Steinberg, Jennifer Sheppard, Alexandra E. Kovach, Brent L. Wood, Michael Borowitz, Maryalice Stetler-Stevenson, Constance M. Yuan, Vinodh Pillai, Toni Foley, Perry Chung, Lee Chen, Daniel W. Lee, Colleen Annesley, Amanda M. DiNofia, Stephan A. Grupp, Michael R Verneris, Lia Gore, Theodore W. Laetsch, Deepa Bhojwani, Patrick A. Brown, Michael A. Pulsipher, Susan R. Rheingold, Rebecca A Gardner, Nirali N. Shah Blood 138 (Supplement 1), 256-256, 2021-11-05

...Notably, 4/6 (67%) patients that developed a SMN had received an allogeneic HSCT prior to development of SMN....

DOI Web Site 被引用文献1件

Gabriele Deplano, Andrea Martini, Matteo Signorile, Elisa Borfecchia, Valentina Crocellà, Stian Svelle, Silvia Bordiga Angewandte Chemie International Edition 60 (49), 25891-25896, 2021-11-03

<jats:title>Abstract</jats:title><jats:p>A series of gas‐phase reactants is used to treat a Cu‐exchanged mordenite zeolite with the aim of studying the influence of the reaction environment on the …

DOI Web Site Web Site 被引用文献1件

佐藤 孝俊, 石垣 景子 小児科診療 84 (11), 1502-1504, 2021-11-01

DOI Web Site 医中誌

Yogik Onky Silvana Wijaya, Hisahide Nishio, Emma Tabe Eko Niba, Kentaro Okamoto, Haruo Shintaku, Yasuhiro Takeshima, Toshio Saito, Masakazu Shinohara, Hiroyuki Awano Genes 12 (10), 1621-, 2021-10-14

...Emerging treatments, such as splicing modulation of SMN2 and SMN gene replacement therapy, have improved the prognoses and motor functions of patients....

DOI Web Site 参考文献44件

François Boemer, Jean-Hubert Caberg, Pablo Beckers, Vinciane Dideberg, Samantha di Fiore, Vincent Bours, Sandrine Marie, Joseph Dewulf, Lionel Marcelis, Nicolas Deconinck, Aurore Daron, Laura Blasco-Perez, Eduardo Tizzano, Mickaël Hiligsmann, Jacques Lombet, Tatiana Pereira, Lucia Lopez-Granados, Sarvnaz Shalchian-Tehran, Véronique van Assche, Arabelle Willems, Sofie Huybrechts, Bénédicte Mast, Rudolf van Olden, Tamara Dangouloff, Laurent Servais Scientific Reports 11 (1), 19922-, 2021-10-07

...During the pilot program, 136,339 neonates were tested for deletion of exon 7 of <jats:italic>SMN1</jats:italic>, the most common cause of SMA....

DOI PDF Web Site 被引用文献3件

Wijaya, Yogik Onky Silvana, 西尾, 久英, Niba, Emma Tabe Eko, Okamoto, Kentaro, Shintaku, Haruo, Takeshima, Yasuhiro, Saito, Toshio, 篠原, 正和, 粟野, 宏之 Genes 12 (10), 1621-, 2021-10

...Emerging treatments, such as splicing modulation of SMN2 and SMN gene replacement therapy, have improved the prognoses and motor functions of patients....

HANDLE

Gretchen Thomsen, Arthur H. M. Burghes, Caroline Hsieh, Janet Do, Binh T. T. Chu, Stephanie Perry, Basam Barkho, Petra Kaufmann, Douglas M. Sproule, Douglas E. Feltner, Wendy K. Chung, Vicki L. McGovern, Robert F. Hevner, Miriam Conces, Christopher R. Pierson, Mariacristina Scoto, Francesco Muntoni, Jerry R. Mendell, Kevin D. Foust Nature Medicine 27 (10), 1701-1711, 2021-10

DOI PDF Web Site 被引用文献1件

Paz Beniamini, Wenbin Lu The Astrophysical Journal 920 (2), 109-, 2021-10-01

...An SMNS formation imprints on the electromagnetic counterparts to the BNS merger. However, a comparison with observations reveals tensions....

DOI Web Site Web Site 被引用文献1件

Shuki Maruyama, Masaki Fukunaga, Sho K. Sugawara, Yuki H. Hamano, Tetsuya Yamamoto, Norihiro Sadato Scientific Reports 11 (1), 2021-09-17

...There was a motor learning-related increase in preparatory activity in the fronto-parietal regions, including the right M1, overlapping the FPN and sensorimotor network (SMN)....

DOI PDF Web Site 被引用文献1件 参考文献84件

Swe Zin Nyunt, Fujimoto Takafumi, Guan Chai-Eu 電気関係学会九州支部連合大会講演論文集 2021 (0), 336-336, 2021-09-17

...The antenna system satisfies |Smn|≤-15 dB & |Smm|≤-10 dB (3-6 GHz), and it is a competitive candidate for modern 5G-Sub6 GHz applications.</p>...

DOI

Kimizu, Tomokazu, Ida, Shinobu, Okamoto, Kentaro, 粟野, 宏之, Niba, Emma Tabe Eko, Wijaya, Yogik Onky Silvana, Okazaki, Shin, Shimomura, Hideki, Lee, Tomoko, Tominaga, Koji, Nabatame, Shin, Saito, Toshio, Hamazaki, Takashi, Sakai, Norio, Saito, Kayoko, Shintaku, Haruo, 野津, 寛大, Takeshima, Yasuhiro, 飯島, 一誠, 西尾, 久英, 篠原, 正和 International Journal of Neonatal Screening 7 (3), 45-, 2021-09

...Among these patients, 228 were diagnosed as having SMA with survival motor neuron 1 (SMN1) deletion....

HANDLE

Li Chuin Chong, Gayatri Gandhi, Jian Ming Lee, Wendy Wai Yeng Yeo, Sy-Bing Choi International Journal of Molecular Sciences 22 (16), 8962-, 2021-08-20

...) gene, which encodes the SMN protein....

DOI Web Site 被引用文献1件

Hong Yang, Xiao Chen, Zuo-Bing Chen, Le Li, Xue-Ying Li, Francisco Xavier Castellanos, Tong-Jian Bai, Qi-Jing Bo, Jun Cao, Zhi-Kai Chang, Guan-Mao Chen, Ning-Xuan Chen, Wei Chen, Chang Cheng, Yu-Qi Cheng, Xi-Long Cui, Jia Duan, Yiru Fang, Qi-Yong Gong, Wen-Bin Guo, Zheng-Hua Hou, Lan Hu, Li Kuang, Feng Li, Hui-Xian Li, Kai-Ming Li, Tao Li, Yan-Song Liu, Zhe-Ning Liu, Yi-Cheng Long, Bin Lu, Qing-Hua Luo, Hua-Qing Meng, Daihui Peng, Hai-Tang Qiu, Jiang Qiu, Yue-Di Shen, Yu-Shu Shi, Tian-Mei Si, Yan-Qing Tang, Chuan-Yue Wang, Fei Wang, Kai Wang, Li Wang, Xiang Wang, Ying Wang, Yu-Wei Wang, Xiao-Ping Wu, Xin-Ran Wu, Chun-Ming Xie, Guang-Rong Xie, Hai-Yan Xie, Peng Xie, Xiu-Feng Xu, Jian Yang, Jia-Shu Yao, Shu-Qiao Yao, Ying-Ying Yin, Yong-Gui Yuan, Yu-Feng Zang, Ai-Xia Zhang, Hong Zhang, Ke-Rang Zhang, Lei Zhang, Zhi-Jun Zhang, Jing-Ping Zhao, Rubai Zhou, Yi-Ting Zhou, Jun-Juan Zhu, Zhi-Chen Zhu, Chao-Jie Zou, Xi-Nian Zuo, Chao-Gan Yan Molecular Psychiatry 26 (12), 7363-7371, 2021-08-12

...in the default mode network (DMN), SMN, DAN, and VN....

DOI PDF Web Site 被引用文献2件

Vanessa Luiza Romanelli Tavares, Frederico Monfardini, Naila Cristina Vilaça Lourenço, Katia Maria da Rocha, Karina Weinmann, Rita Pavanello, Mayana Zatz International Journal of Neonatal Screening 7 (3), 53-, 2021-08-11

...<jats:p>Since the approval of modifying therapies for Spinal Muscular Atrophy (SMA), several protocols aiming to screen SMN1 homozygous deletion in a neonatal context have been published....

DOI Web Site 被引用文献1件

Eric William Ottesen, Diou Luo, Natalia Nikolaevna Singh, Ravindra Narayan Singh International Journal of Molecular Sciences 22 (16), 8378-, 2021-08-04

...The discovery of ISS-N1 as a promising therapeutic target was enabled in part by Anti-N1, a 20-mer ASO that restored SMN2 exon 7 inclusion by annealing to ISS-N1....

DOI Web Site 被引用文献1件

Yogik Onky Silvana Wijaya, Mawaddah Ar Rohmah, Emma Tabe Eko Niba, Naoya Morisada, Yoriko Noguchi, Yasufumi Hidaka, Shiro Ozasa, Takeshi Inoue, Tomoyuki Shimazu, Yuya Takahashi, Takenori Tozawa, Tomohiro Chiyonobu, Takushi Inoue, Tomoyoshi Shiroshita, Atsushi Yokoyama, Kentaro Okamoto, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Hisahide Nishio, Masakazu Shinohara Brain and Development 43 (7), 745-758, 2021-08

DOI Web Site Web Site 被引用文献3件 参考文献37件

Binod Kumar, Samantha Barton, Jolanta Kordowska, Roger B. Eaton, Anne M. Counihan, Jaime E. Hale, Anne Marie Comeau International Journal of Neonatal Screening 7 (3), 47-, 2021-07-21

...All nine SMA-affected infants found through NBS were also assayed for SMN2 copy number....

DOI Web Site 被引用文献1件

Giuseppe Rotunno, Gurpreet Kaur, Andrea Lazzarini, Carlo Buono, Mohamed Amedjkouh Chemistry – An Asian Journal 16 (16), 2361-2369, 2021-07-21

<jats:title>Abstract</jats:title><jats:p>Symmetry breaking is observed in the Soai reaction in a confinement environment provided by zirconium‐based UiO‐MOFs used as crystalline sponges. Subsequent …

DOI Web Site Web Site 被引用文献1件

Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, Hiroyuki Awano, Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Shin Okazaki, Hideki Shimomura, Tomoko Lee, Koji Tominaga, Shin Nabatame, Toshio Saito, Takashi Hamazaki, Norio Sakai, Kayoko Saito, Haruo Shintaku, Kandai Nozu, Yasuhiro Takeshima, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohara International Journal of Neonatal Screening 7 (3), 45-, 2021-07-20

...Among these patients, 228 were diagnosed as having SMA with survival motor neuron 1 (SMN1) deletion....

DOI Web Site 被引用文献5件 参考文献47件

Kushol Gupta, Ying Wen, Nisha S Ninan, Amanda C Raimer, Robert Sharp, Ashlyn M Spring, Kathryn L Sarachan, Meghan C Johnson, Gregory D Van Duyne, A Gregory Matera Nucleic Acids Research 49 (13), 7644-7664, 2021-06-28

...SMN forms the oligomeric core of this complex, and missense mutations within its YG box domain are known to cause Spinal Muscular Atrophy (SMA)....

DOI PDF 被引用文献1件

Nikki M. McCormack, Eric Villalón, Coralie Viollet, Anthony R. Soltis, Clifton L. Dalgard, Christian L. Lorson, Barrington G. Burnett Journal of Cachexia, Sarcopenia and Muscle 12 (4), 1098-1116, 2021-06-11

...We and others have shown that SMN‐deficient muscle precursor cells fail to efficiently fuse into myotubes. However, the role of SMN in myoblast fusion is not known....

DOI Web Site Web Site 被引用文献1件

Jaime E. Hale, Basil T. Darras, Kathryn J. Swoboda, Elicia Estrella, Jin Yun Helen Chen, Mary-Alice Abbott, Beverly N. Hay, Binod Kumar, Anne M. Counihan, Jacalyn Gerstel-Thompson, Inderneel Sahai, Roger B. Eaton, Anne Marie Comeau International Journal of Neonatal Screening 7 (2), 26-, 2021-05-23

...Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols....

DOI Web Site 被引用文献1件

Julian Caspers, Christian Rubbert, Simon B. Eickhoff, Felix Hoffstaedter, Martin Südmeyer, Christian J. Hartmann, Benjamin Sigl, Nikolas Teichert, Joel Aissa, Bernd Turowski, Alfons Schnitzler, Christian Mathys Neuroradiology 63 (12), 2073-2085, 2021-05-21

...Evidence for network changes of the sensorimotor network (SMN) in PD is inconsistent and a systematic evaluation of SMN in PD yet missing....

DOI PDF Web Site 被引用文献1件

Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey Nature Communications 12 (1), 2558-, 2021-05-07

...<jats:title>Abstract</jats:title><jats:p>GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins...

DOI PDF Web Site 被引用文献3件

Meaghan Van Alstyne, Ivan Tattoli, Nicolas Delestrée, Yocelyn Recinos, Eileen Workman, Lamya S. Shihabuddin, Chaolin Zhang, George Z. Mentis, Livio Pellizzoni Nature Neuroscience 24 (7), 930-940, 2021-04-01

DOI PDF Web Site 被引用文献1件

John W Day, Richard S Finkel, Claudia A Chiriboga, Anne M Connolly, Thomas O Crawford, Basil T Darras, Susan T Iannaccone, Nancy L Kuntz, Loren D M Peña, Perry B Shieh, Edward C Smith, Jennifer M Kwon, Craig M Zaidman, Meredith Schultz, Douglas E Feltner, Sitra Tauscher-Wisniewski, Haojun Ouyang, Deepa H Chand, Douglas M Sproule, Thomas A Macek, Jerry R Mendell The Lancet Neurology 20 (4), 284-293, 2021-04

DOI Web Site Web Site 被引用文献2件

Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbel, Wolfgang Müller-Felber Orphanet Journal of Rare Diseases 16 (1), 153-, 2021-03-31

...Birth prevalence was 1:6910; 39.5% had 2 <jats:italic>SMN2</jats:italic> copies, 23% had 3 <jats:italic>SMN2</jats:italic> copies, 32.5% had 4 copies, and 4.5% had 5 copies of the <jats:italic>SMN2</jats...

DOI PDF Web Site 被引用文献4件

Yuma Kato, Minnie Yokogawa, Ikuma Nakagawa, Kazunari Onodera, Hideyuki Okano, Haruhisa Inoue, Mitsuharu Hattori, Yohei Okada, Hitomi Tsuiji 2021-03-25

...Gemini of coiled bodies (GEMs) are nuclear structures that harbor survival of motor neuron (SMN) protein, and SMN is essential for the assembly of U-rich small nuclear ribonucleoproteins (snRNPs) that...

DOI Web Site 参考文献49件

Katerina Kucera, Jennifer Taylor, Veronica Robles, Kristin Clinard, Brooke Migliore, Beth Boyea, Katherine Okoniewski, Martin Duparc, Catherine Rehder, Scott Shone, Zheng Fan, Melissa Raspa, Holly Peay, Anne Wheeler, Cynthia Powell, Donald Bailey, Lisa Gehtland International Journal of Neonatal Screening 7 (1), 20-, 2021-03-21

...We enrolled a total of 12,065 newborns and identified one newborn with 0 copies of SMN1 and two copies of SMN2, consistent with severe early onset of SMA....

DOI Web Site 被引用文献4件

Emma Tabe Eko Niba, Hisahide Nishio, Yogik Onky Silvana Wijaya, Poh San Lai, Takenori Tozawa, Tomohiro Chiyonobu, Misaki Yamadera, Kentaro Okamoto, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Masakazu Shinohara Brain and Development 43 (2), 294-302, 2021-02

DOI Web Site Web Site 被引用文献3件

日下 真一 MEDCHEM NEWS 31 (1), 25-29, 2021-02-01

...本稿ではRNAを標的とした創薬研究の歴史を紐解くとともに、SMN2スプライシング調節薬risdiplamの創製経緯を概説することで、RNAを標的とする低分子創薬の展望について述べる。</p>...

DOI 医中誌

Katarzyna Pierzchlewicz, Izabela Kępa, Jacek Podogrodzki, Katarzyna Kotulska Child Neurology Open 8 2329048X2110087-, 2021-01-01

...the SMN2 gene to stimulate SMN production but administered orally, and onasemnogene abeparvovec-xioi, an SMN1 gene replacement therapy....

DOI Web Site Web Site 被引用文献1件

Pierfrancesco Ticali, Davide Salusso, Rafia Ahmad, Christian Ahoba-Sam, Adrian Ramirez, Genrikh Shterk, Kirill A. Lomachenko, Elisa Borfecchia, Sara Morandi, Luigi Cavallo, Jorge Gascon, Silvia Bordiga, Unni Olsbye Catalysis Science & Technology 11 (4), 1249-1268, 2021

<p>The tandem process of carbon dioxide hydrogenation to methanol and its conversion to hydrocarbons over mixed metal/metal oxide-zeotype catalysts is a promising path to CO₂ …

DOI Web Site 被引用文献1件

馬場 みのり, 阿部 咲子, 渡辺 輝浩, 小川 淳 日本小児血液・がん学会雑誌 58 (3), 269-274, 2021

<p>背景：近年，治療関連二次がんの解明が進んでいるが，その経過や予後に関する報告はまだ少ない．方法：1980～2010年に当院で治療した，診断時18歳未満の小児603例を後方視的に調査した．結果：18例に治療関連二次がんを認めた．原疾患は急性白血病が最多で11例であった．二次がんは，造血器腫瘍5例，甲状腺癌3例，乳癌3例，消化管癌3例，骨軟部腫瘍2例，腎癌1例，胸膜腫瘍1例であった．原疾患診断…

DOI 医中誌

本橋 裕子 日本臨床薬理学会学術総会抄録集 42 (0), 1-S13-4-, 2021

...SMAはSMN1遺伝子変異が原因で，脊髄前角細胞の変性・脱落により，進行性の筋力低下を認める疾患である．その他，Duchenne型筋ジストロフィー(DMD)とX連鎖性ミオチュブラーミオパチー（XLMTM）でも臨床試験が国内外で進められている．DMDは筋線維の変性・壊死を主病変とし, 乳幼児期以降に進行性の筋力低下をみる.原因はDMD遺伝子で，複数の遺伝子治療薬の臨床試験が行われている．XLMTMは生後間...

DOI

勝野 雅央 日本臨床薬理学会学術総会抄録集 42 (0), 1-S09-2-, 2021

...脊髄性筋萎縮症 (SMA)はSMN1欠失もしくは変異を原因とする常染色体潜性（劣性）遺伝疾患であり、一般に6ヶ月までに発症する重症型（1型）から1歳半以降に発症する軽症型（3型）に分類される。1型では2歳までに人工呼吸器装着もしくは呼吸不全による死亡を余儀なくされる。...

DOI

香川 雄輔 日本臨床薬理学会学術総会抄録集 42 (0), 1-S13-2-, 2021

...本製品は、SMAの根本原因であるSMN1遺伝子の機能欠損を補って運動ニューロンのSMNタンパク質発現量を増加させ、脊髄運動ニューロンの変性・消失を防ぎ、神経及び筋肉の機能を高め、筋萎縮を防ぐことで、SMA患者の生命予後及び運動機能の改善が見込まれる。...

DOI

木水 友一, 鈴木 保宏, 五嶋 嶺, 水谷 聡志, 中島 健, 池田 妙, 最上 友紀子, 柳原 恵子, 沖永 剛志, 西尾 久英 脳と発達 53 (2), 142-145, 2021

<p> 近年, 脊髄性筋萎縮症 (SMA) の新しい治療薬として<i>survival motor neuron</i> (<i>SMN</i>) <i>2</i>をターゲットとするアンチセンスヌクレオチドであるnusinersenが市販された. 乳児型SMAでは早期治療が推奨されているが, 胎児期発症の最重症型であるSMA0型の治療報告は少ない. 今回, …

DOI 医中誌

橋口 昭大 神経治療学 38 (3), 388-390, 2021

...About 90% of patients do not produce normal SMN protein due to deletion of the <i>SMN1</i> gene....

DOI

Paymaan Jafar-nejad, Berit Powers, Armand Soriano, Hien Zhao, Daniel A Norris, John Matson, Beatrice DeBrosse-Serra, Jamie Watson, Padmakumar Narayanan, Seung J Chun, Curt Mazur, Holly Kordasiewicz, Eric E Swayze, Frank Rigo Nucleic Acids Research 49 (2), 657-673, 2020-12-24

...Spinraza, an ASO that modulates splicing of SMN2 RNA, has shown profound disease modifying effects in Spinal Muscular Atrophy (SMA) patients, energizing efforts to develop ASOs for other neurological diseases...

DOI PDF 被引用文献1件

Ivon Cuscó, Sara Bernal, Laura Blasco-Pérez, Maite Calucho, Laura Alias, Pablo Fuentes-Prior, Eduardo F. Tizzano Neurology Genetics 6 (6), e530-, 2020-12

DOI Web Site 被引用文献1件

Lingxia Jiang, Robert Lin, Steve Gallagher, Andrew Zayac, Matthew E. R. Butchbach, Paul Hung Scientific Reports 10 (1), 19892-, 2020-11-16

...The hydrolysis probe-based multiplex dPCR assay quantifies <jats:italic>SMN1</jats:italic>, <jats:italic>SMN2,</jats:italic> and the total <jats:italic>SMN</jats:italic> (<jats:italic>SMN1</jats:italic...

DOI PDF Web Site 被引用文献1件

P. V. S. Souza, W. B. V. R. Pinto, A. Ricarte, B. M. L. Badia, D. D. Seneor, D. T. Teixeira, L. Caetano, E. A. Gonçalves, M. A. T. Chieia, I. B. Farias, E. Bertini, A. S. B. Oliveira European Journal of Neurology 28 (2), 609-619, 2020-11-12

...Sixteen patients (80%) had the homozygous deletion of exon 7 in the <jats:italic>SMN1</jats:italic> gene, with 12 patients (60%) showing four copies of the <jats:italic>SMN2</jats:italic> gene....

DOI Web Site Web Site 被引用文献1件

Gabriel Idakwo, Sundar Thangapandian, Joseph Luttrell, Yan Li, Nan Wang, Zhaoxian Zhou, Huixiao Hong, Bei Yang, Chaoyang Zhang, Ping Gong Journal of Cheminformatics 12 (1), 2020-10-27

...SMN became less effective when IR exceeded a certain threshold (e.g., > 28)....

DOI PDF Web Site 被引用文献1件

Hugh J. McMillan, Kristin D. Kernohan, Ed Yeh, Kim Amburgey, Jennifer Boyd, Craig Campbell, James J. Dowling, Hernan Gonorazky, Janet Marcadier, Mark A. Tarnopolsky, Jiri Vajsar, Alex MacKenzie, Pranesh Chakraborty Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 48 (4), 504-511, 2020-10-16

...However, the range of disease-modifying <jats:italic>SMN2</jats:italic> gene copy numbers encountered in survival motor neuron 1 (<jats:italic>SMN1</jats:italic>)-null individuals means that neither screen-positive...

DOI Web Site 被引用文献2件

Stephanie B. Dixon, Yan Chen, Yutaka Yasui, Ching-Hon Pui, Stephen P. Hunger, Lewis B. Silverman, Kirsten K. Ness, Daniel M. Green, Rebecca M. Howell, Wendy M. Leisenring, Nina S. Kadan-Lottick, Kevin R. Krull, Kevin C. Oeffinger, Joseph P. Neglia, Ann C. Mertens, Melissa M. Hudson, Leslie L. Robison, Gregory T. Armstrong, Paul C. Nathan Journal of Clinical Oncology 38 (29), 3418-3429, 2020-10-10

...Health-related late mortality and SMN risks among 5-year survivors of contemporary, standard-risk childhood ALL are comparable to the general population. </jats:p></jats:sec>...

DOI Web Site 被引用文献1件

Marc Delcroix, Salma Sylla, Ricardo Hueso, François Colas, David Baratoux EPSC 14 775-, 2020-10-08

...0yGfXB4p13SvGWgeDtW0mfU7vw/a6X4NtZoHvxLo1loAlFumnP/AJfKlN6JU6cnQcaqeloNOvzSsmp04O3JzSjTur36w0srta8zT8+aFKS30v1Vj5w8UeF/HPgm/bSvGOkeJ/C+qIVV9N8QWmo6Tfxs1vbXYWSzvkhuI2Fvd2srI8QdEnjMirnirZ6L4u1G1sb6xsfEd1Y6prf/AAjem3sMN61nfeIDBb3I0W2u...

DOI 被引用文献1件

Rosemary Killen 2020-10-08

...75N1YtfFctvpXSz9nPVeOrzuzHJYLgpGjNWLGYAytuWgECOmrNfAs5R62c1sz3SFKUyCCL1sbtoBVjCfMJsdzwc+1+W7l/ad1caf/SusX/beWclu6/sXKOpfvzuv3Fqm3x3Hor9slCzalPZB8/M2Jz/Oc9f30/jtTbbIVF6jx6hUFKB5nMTu/h8LWc9ulzWkvrtHRK2+WadVZtMv3h2tyj+XhLKCfy773tbJsnMP/lDEHfraHMzYN0sMn6PjZjvYu450reWeBbdYZ0TxjlMM7D9E...

DOI 被引用文献1件

Tabe, Emma, Niba, Eko, 西尾, 久英, Onky Silvana Wijaya, Yogik, San Lai, Poh, Tozawa, Takenori, Chiyonobu, Tomohiro, Yamadera, Misaki, Okamoto, Kentaro, 粟野, 宏之, Takeshima, Yasuhiro, Saito, Toshio, 篠原, 正和 Brain and Development 43 (2), 294-302, 2020-10-06

...However, exon 8 is retained in some cases, where SMN2 exon 7 recombines with SMN1 exon 8, forming a hybrid SMN gene. It remains unknown how the hybrid SMN gene contribute to the SMA phenotype....

HANDLE

Rodrigo de Holanda Mendonça, Ciro Matsui, Graziela Jorge Polido, André Macedo Serafim Silva, Leslie Kulikowski, Alexandre Torchio Dias, Evelin Aline Zanardo, Davi Jorge Fontoura Solla, Juliana Gurgel-Giannetti, Ana Carolina Monteiro Lessa de Moura, Gabriela Palhares Campolina Sampaio, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Eduardo Augusto Gonçalves, Igor Braga Farias, Flávia Nardes, Alexandra Prufer de Queiroz Campos Araújo, Wilson Marques, Pedro José Tomaselli, Mara Dell Ospedale Ribeiro, João Paulo Kitajima, Fabíola Paoli Monteiro, Jonas Alex Morales Saute, Michele Michelin Becker, Maria Luiza Saraiva-Pereira, Ana Carolina Brusius-Facchin, Vanessa van der Linden, Rodrigo Neves Florêncio, André Vinícius Soares Barbosa, Marcela Camara Machado-Costa, André Luiz Santos Pessoa, Leticia Silva Souza, Marcondes Cavalcante Franca, Fernando Kok, Umbertina Conti Reed, Edmar Zanoteli Neurology Genetics 6 (5), e505-, 2020-10-05

DOI Web Site 被引用文献2件

Fabio Lauria, Paola Bernabò, Toma Tebaldi, Ewout Joan Nicolaas Groen, Elena Perenthaler, Federica Maniscalco, Annalisa Rossi, Deborah Donzel, Massimiliano Clamer, Marta Marchioretto, Neža Omersa, Julia Orri, Mauro Dalla Serra, Gregor Anderluh, Alessandro Quattrone, Alberto Inga, Thomas Henry Gillingwater, Gabriella Viero Nature Cell Biology 22 (10), 1239-1251, 2020-09-21

DOI PDF Web Site 被引用文献1件

Megan A. Waldrop, Cassandra Karingada, Mike A. Storey, Brenna Powers, Megan A. Iammarino, Natalie F. Miller, Lindsay N. Alfano, Garey Noritz, Ian Rossman, Matthew Ginsberg, Kathryn A. Mosher, Eileen Broomall, Jessica Goldstein, Nancy Bass, Linda P. Lowes, Chang-Yong Tsao, Jerry R. Mendell, Anne M. Connolly Pediatrics 146 (3), 2020-09-01

...SMA is caused by the absence of the SMN1 gene, and SMN1 gene replacement therapy, onasemnogene abeparvovec-xioi, was Food and Drug Administration approved in May 2019....

DOI PDF 被引用文献1件

Océane Landon-Cardinal, Alexandra Baril-Dionne, Sabrina Hoa, Alain Meyer, Valérie Leclair, Josiane Bourré-Tessier, Anne-Marie Mansour, Farah Zarka, Jean-Paul Makhzoum, Jessica Nehme, Eric Rich, Jean-Richard Goulet, Tamara Grodzicky, Martial Koenig, France Joyal, Isabelle Richard, Marie Hudson, Ira Targoff, Minoru Satoh, Marvin J Fritzler, Yves Troyanov, Jean-Luc Senécal RMD Open 6 (2), e001357-, 2020-09

...Third, the nuclear dots pattern was associated with aAbs to survival of motor neuron (SMN) complex and a novel scleromyositis subset characteriszed by calcinosis but infrequent ILD and renal crisis....

DOI Web Site 被引用文献1件 参考文献40件

Brunhilde Wirth, Mert Karakaya, Min Jeong Kye, Natalia Mendoza-Ferreira Annual Review of Genomics and Human Genetics 21 (1), 231-261, 2020-08-31

...Homozygous deletions or, rarely, subtle mutations of SMN1 cause SMA, and the copy number of the nearly identical copy gene SMN2 inversely correlates with disease severity....

DOI Web Site 被引用文献2件

Matteo Signorile, Luca Braglia, Valentina Crocellà, Piero Torelli, Elena Groppo, Gabriele Ricchiardi, Silvia Bordiga, Francesca Bonino Angewandte Chemie International Edition 59 (41), 18145-18150, 2020-08-17

<jats:title>Abstract</jats:title><jats:p>Ti silicates, and in particular, titanium silicalite‐1 (TS‐1), are nowadays important catalysts for several partial oxidation reactions in the presence of …

DOI Web Site Web Site ほか1件 被引用文献1件

Eiso Hiyama, Tomoro Hishiki, Kenichiro Watanabe, Kohmei Ida, Yuka Ueda, Sho Kurihara, Michihiro Yano, Ken Hoshino, Akiko Yokoi, Yuichi Takama, Yuki Nogami, Tomoaki Taguchi, Makiko Mori, Kentaro Kihira, Osamu Miyazaki, Hiroshi Fuji, Shohei Honda, Tomoko Iehara, Takuro Kazama, Junya Fujimura, Yukichi Tanaka, Takeshi Inoue, Tatsuro Tajiri, Satoshi Kondo, Takaharu Oue, Kenichi Yoshimura Journal of Clinical Oncology 38 (22), 2488-2498, 2020-08-01

...JPLT-2 had a relatively low incidence of cardiotoxicity but high rates of SMNs.</jats:p></jats:sec>...

DOI Web Site 被引用文献9件 参考文献31件

Sonia Messina, Maria Sframeli Journal of Clinical Medicine 9 (7), 2222-, 2020-07-13

...The disorder is caused by mutations in the survival motor neuron 1 (SMN1) gene and a consequent decrease in the SMN protein leading to lower motor neuron degeneration....

DOI Web Site 被引用文献1件

Yingjie Sun, Xiangdong Kong, Zhenhua Zhao, Xuechao Zhao BMC Medical Genetics 21 (1), 2020-06-18

...Multiplex ligation-dependent probe amplification analysis was used to determine the copy numbers of SMN1 and SMN2. Long-range PCR combined with nested PCR was used to detect point mutations in SMN1....

DOI PDF Web Site 被引用文献1件

Menghan Du, Nathaniel Jillette, Jacqueline Jufen Zhu, Sheng Li, Albert Wu Cheng Nature Communications 11 (1), 2020-06-12

...Finally, we demonstrate the activation of <jats:italic>SMN2</jats:italic> exon 7 splicing in spinal muscular atrophy (SMA) patient fibroblasts, suggesting a potential application of the CASFx system....

DOI PDF Web Site 被引用文献1件

Kyriaki Kekou, Maria Svingou, Christalena Sofocleous, Niki Mourtzi, Evangelia Nitsa, George Konstantinidis, Sotiris Youroukos, Konstantinos Skiadas, Marina Katsalouli, Roser Pons, Antigoni Papavasiliou, Charalabos Kotsalis, Evangelos Pavlou, Athanasios Evangeliou, Efstathia Katsarou, Konstantinos Voudris, Argirios Dinopoulos, Pelagia Vorgia, George Niotakis, Nikolaos Diamantopoulos, Iliada Nakou, Vasiliki Koute, George Vartzelis, George-Konstantinos Papadimas, Constantinos Papadopoulos, Georgios Tsivgoulis, Joanne Traeger-Synodinos Journal of Neuromuscular Diseases 7 (3), 247-256, 2020-06-02

...For prognosis a minimal model pertaining disease onset before 18 months was proposed to include copy numbers of NAIP (OR = 9.9;95% CI, 4.7 to 21) and SMN2 (OR = 6.2;95% CI, 2.5–15.2) genes as well as gender...

DOI Web Site 被引用文献2件

Onky Silvana Wijaya, Yogik, Purevsuren, Jamiyan, Imma Fatimah Harahap, Nur, Tabe Eko Niba, Emma, Bouike, Yoshihiro, Kesumapramudya Nurputra, Dian, Rochmah, Ar Mawaddah, Thursina, Cempaka, Hapsara, Sunartini, Yamaguchi, Seiji, 西尾, 久英, 篠原, 正和 International Journal of Neonatal Screening 6 (2), 43-, 2020-05-29

...Our system clearly separated the DBS samples with one SMN1 copy (carrier status with a heterozygous deletion of SMN1) from the DBS samples with two SMN1 copies (non-carrier status with no deletion of SMN1...

DOI HANDLE Web Site 被引用文献4件 参考文献37件

Momoko Takagi, Naoki Iwamoto, Yuta Kubo, Takayuki Morimoto, Hiroki Takagi, Fuminori Takahashi, Takumi Nishiuchi, Keisuke Tanaka, Teruaki Taji, Hironori Kaminaka, Kazuo Shinozaki, Kazuya Akimitsu, Ryohei Terauchi, Ken Shirasu, Kazuya Ichimura Plant and Cell Physiology 61 (8), 1507-1516, 2020-05-28

...Aberrant SMN1/RPS6 transcripts were detected in smn2 and hen2 mutants....

DOI PDF PDF 被引用文献1件 参考文献41件

Morizumi, Teruya, Ueno, Akihiro, Takasone, Ken, Ozawa, Kazuki, Yoshinaga, Tsuneaki, Nakamura, Katsuya, Sekijima, Yoshiki Journal of the Neurological Sciences 415 116901-, 2020-05-17

Available online 17 May 2020.

機関リポジトリ HANDLE

Shunke Ai, He Gao, Bing Zhang The Astrophysical Journal 893 (2), 146-, 2020-04-01

...The cases for a massive neutron star (MNS), neither a supramassive neutron star (SMNS) nor even a stable neutron star (SNS) are also allowed by the data....

DOI Web Site Web Site 被引用文献1件

Debra Stevens, Melanie K. Claborn, Brooke L. Gildon, Tiffany L. Kessler, Cheri Walker Annals of Pharmacotherapy 54 (10), 1001-1009, 2020-03-23

...produce SMN protein....

DOI Web Site Web Site 被引用文献1件

Jacqueline Glascock, Jacinda Sampson, Anne M. Connolly, Basil T. Darras, John W. Day, Richard Finkel, R. Rodney Howell, Katherine W. Klinger, Nancy Kuntz, Thomas Prior, Perry B. Shieh, Thomas O. Crawford, Douglas Kerr, Jill Jarecki Journal of Neuromuscular Diseases 7 (2), 97-100, 2020-03-20

DOI Web Site 被引用文献3件

Wolfgang Müller-Felber, Katharina Vill, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Jürgen Durner, Katja Eggermann, Christine Müller, Iris Hannibal, Bernd Olgemöller, Ulrike Schara, Astrid Blaschek, Heike Kölbel Journal of Neuromuscular Diseases 7 (2), 109-117, 2020-03-20

...Of the 15 SMA children with 4 SMN2 copies, one child developed physical signs of SMA by the age of 8 months. Reanalysis of the SMN2 copy number by a different test method revealed 3 copies....

DOI Web Site 被引用文献1件

Hiromasa Yoshioka, Hudson W. Coates, Ngee Kiat Chua, Yuichi Hashimoto, Andrew J. Brown, Kenji Ohgane Proceedings of the National Academy of Sciences 117 (13), 7150-7158, 2020-03-13

...The stability of SM is negatively regulated by cholesterol via its N-terminal regulatory domain (SM-N100)....

DOI Web Site Web Site 被引用文献3件 参考文献58件

Jeong-Ki Kim, Narendra N. Jha, Zhihua Feng, Michelle R. Faleiro, Claudia A. Chiriboga, Lan Wei-Lapierre, Robert T. Dirksen, Chien-Ping Ko, Umrao R. Monani Journal of Clinical Investigation 130 (3), 1271-1287, 2020-02-10

DOI Web Site 被引用文献2件

Niko Hensel, Sabrina Kubinski, Peter Claus Frontiers in Neurology 11 2020-02-03

DOI Web Site 被引用文献1件

Yuta Saito, Suguru Yaginuma, Yuta Nishino, Hayato Sakata, Kazuhide Nakata Proceedings of the 13th International Conference on Web Search and Data Mining 2020-01-20

DOI Web Site 被引用文献1件

Sen Wang, Pengfei Wang, Dezhi Shi, Shipei He, Li Zhang, Wenjun Yan, Zhangfeng Qin, Junfen Li, Mei Dong, Jianguo Wang, Unni Olsbye, Weibin Fan ACS Catalysis 10 (3), 2046-2059, 2020-01-02

DOI Web Site 被引用文献1件

SHIORI ANDO, MIRUTO TANAKA, NAOKI CHINEN, SHINSUKE NAKAMURA, MASAMITSU SHIMAZAWA, HIDEAKI HARA In Vivo 34 (6), 3247-3254, 2020

DOI Web Site 被引用文献1件

Andrea Martini, Matteo Signorile, Chiara Negri, Karoline Kvande, Kirill A. Lomachenko, Stian Svelle, Pablo Beato, Gloria Berlier, Elisa Borfecchia, Silvia Bordiga Physical Chemistry Chemical Physics 22 (34), 18950-18963, 2020

<p>An innovative approach in EXAFS analysis and fitting using wavelet transforms reveals local structure and nuclearity of Cu-species in zeolites.</p>

DOI Web Site 被引用文献1件

萩原 正敏 日本毒性学会学術年会 47.1 (0), S21-1-, 2020

<p>スプライシング変異は遺伝性疾患関連変異として報告されている既知遺伝病関連変異（約２７万種類）のおよそ９％を占めるが、中でも深部イントロン変異に起因する偽エクソン型スプライシング変異が新たな制御形態として注目されている。これら深部イントロン変異は、変異によりイントロン配列内にスプライス部位やエンハンサー等を新生させることでイントロン配列の部分的なエクソン化、すなわち「偽エクソン」を生じさせ、…

DOI

須貝 みさき, 大府 正治, 當山 潤 脳と発達 52 (5), 323-326, 2020

<p> 電動車いす (電動) 支給が幼児期に決定した, 脊髄性筋萎縮症 (spinal muscular atrophy ; SMA) Ⅱ型の4歳7か月とⅢ型の4歳1か月の女児2症例を報告する. 両症例共に筋力低下, 腱反射消失, 手指の線維束れん縮を認め, <i>SMN1</i>遺伝子exon7-8領域欠失よりSMAと診断した. 自力歩行が不能で, 身体障害者手帳1級を所持しており, …

DOI

吉田 仁典, 加藤 元博 臨床血液 61 (9), 1174-1178, 2020

<p>二次がんは，造血器腫瘍を含むがん患者における最も重篤な晩期合併症の一つであり，がん治療後の長期サバイバーの10％以上が二次がんを発症するとされている。これまでもがんの発症の背景にある生殖細胞系列のバリアントの関与が報告されてきたが，二次がんについても生殖細胞系列のcancer predisposition …

DOI Web Site PubMed ほか1件

佐橋 健太郎, 勝野 雅央 神経治療学 37 (3), 247-250, 2020

...Humans have a closely related <i>SMN2</i>, but it only expresses low levels of SMN protein, due to alternative splicing of exon 7....

DOI 医中誌

齋藤 加代子, 加藤 環, 松尾 真理 小児科診療 83 (1), 41-44, 2020-01-01

DOI Web Site 医中誌

Ando Shiori, Otsu Wataru, Osanai Daiki, Kamiya Satoshi, Ishida Kodai, Nakamura Shinsuke, Shimazawa Masamitsu, Hara Hideaki BPB Reports 3 (4), 130-137, 2020

...These SMN-depletion-induced aberrations in lysosomes and autophagy could be rescued by the exogenous expression of TFEB....

DOI Web Site 医中誌 参考文献36件

Rebecca Cacciottolo, Joanna Ciantar, Maia Lanfranco, Rebecca M. Borg, Neville Vassallo, Rémy Bordonné, Ruben J. Cauchi Scientific Reports 9 (1), 18666-, 2019-12-10

...SMA is caused by insufficient levels of the Survival Motor Neuron (SMN) protein, which operates as part of the multiprotein SMN complex that includes the DEAD-box RNA helicase Gemin3/DDX20/DP103....

DOI PDF Web Site 被引用文献1件

Ian Casci, Karthik Krishnamurthy, Sukhleen Kour, Vadreenath Tripathy, Nandini Ramesh, Eric N. Anderson, Lara Marrone, Rogan A. Grant, Stacie Oliver, Lauren Gochenaur, Krishani Patel, Jared Sterneckert, Amanda M. Gleixner, Christopher J. Donnelly, Marc-David Ruepp, Antonella M. Sini, Emanuela Zuccaro, Maria Pennuto, Piera Pasinelli, Udai Bhan Pandey Nature Communications 10 (1), 5583-, 2019-12-06

...Upregulation of SMN suppressed FUS toxicity in <jats:italic>Drosophila</jats:italic> and primary cortical neurons, indicating a link between FUS and SMN....

DOI PDF Web Site 被引用文献1件

Jorge Diogo Da Silva, Stéphanie Oliveira, Joana Pereira-Sousa, Andreia Teixeira-Castro, Marta Daniela Costa, Patrícia Maciel Molecular Neurobiology 57 (3), 1553-1569, 2019-12-03

DOI PDF Web Site 被引用文献1件

篠原, 正和, Niba, Emma Tabe Eko, Wijaya, Yogik Onky Silvana, Takayama, Izumi, Mitsuishi, Chisako, Kumasaka, Sakae, Kondo, Yoichi, Takatera, Akihiro, Hokuto, Isamu, 森岡, 一朗, Ogiwara, Kazutaka, Tobita, Kimimasa, Takeuchi, Atsuko, 西尾, 久英, the SMA-NBS PILOT STUDY GROUP International Journal of Neonatal Screening 5 (4), 41-41, 2019-12

...The drug nusinersen modifies SMN2 mRNA splicing, increasing the production of the full-length SMN protein....

HANDLE

Lucie M. Turcotte, Qi Liu, Yutaka Yasui, Tara O. Henderson, Todd M. Gibson, Wendy Leisenring, Michael A. Arnold, Rebecca M. Howell, Daniel M. Green, Gregory T. Armstrong, Leslie L. Robison, Joseph P. Neglia Journal of Clinical Oncology 37 (34), 3310-3319, 2019-12-01

...Limited data exist on chemotherapy-associated subsequent malignant neoplasm (SMN) risk....

DOI Web Site 被引用文献3件

Masakazu Shinohara, Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Izumi Takayama, Chisako Mitsuishi, Sakae Kumasaka, Yoichi Kondo, Akihiro Takatera, Isamu Hokuto, Ichiro Morioka, Kazutaka Ogiwara, Kimimasa Tobita, Atsuko Takeuchi, Hisahide Nishio International Journal of Neonatal Screening 5 (4), 41-, 2019-11-12

...The drug nusinersen modifies SMN2 mRNA splicing, increasing the production of the full-length SMN protein....

DOI Web Site 被引用文献7件 参考文献28件

Cristina Gutierrez-Mateo, Anne Timonen, Katja Vaahtera, Markku Jaakkola, David M Hougaard, Jonas Bybjerg-Grauholm, Marie Baekvad-Hansen, Dea Adamsen, Galina Filippov, Stephanie Dallaire, David Goldfarb, Daniel Schoener, Rongcong Wu International Journal of Neonatal Screening 5 (4), 39-, 2019-11-02

...The PCR assay identifies the absence of exon 7 in the SMN1 gene, while simultaneously evaluating the copy number of T-cell receptor excision circles (TREC) and Kappa-deleting recombination excision circles...

DOI Web Site 被引用文献1件

Daniel M. Ramos, Constantin d’Ydewalle, Vijayalakshmi Gabbeta, Amal Dakka, Stephanie K. Klein, Daniel A. Norris, John Matson, Shannon J. Taylor, Phillip G. Zaworski, Thomas W. Prior, Pamela J. Snyder, David Valdivia, Christine L. Hatem, Ian Waters, Nikhil Gupte, Kathryn J. Swoboda, Frank Rigo, C. Frank Bennett, Nikolai Naryshkin, Sergey Paushkin, Thomas O. Crawford, Charlotte J. Sumner Journal of Clinical Investigation 129 (11), 4817-4831, 2019-10-07

DOI Web Site 被引用文献3件

Rodrigo H. Mendonça, Antônio J. Rocha, Andres Lozano‐Arango, Astry B. Diaz, Claudia Castiglioni, André M. S. Silva, Umbertina C. Reed, Leslie Kulikowski, Ida Paramonov, Ivon Cuscó, Eduardo F. Tizzano, Edmar Zanoteli Annals of Neurology 86 (3), 458-462, 2019-07-24

...<jats:p>Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the <jats:italic>SMN1</jats:italic> gene and manifesting at birth....

DOI Web Site Web Site 被引用文献2件

Annabelle Teng, Daniel W. Nelson, Ahmed Dehal, Shu‐Ching Chang, Trevan Fischer, Scott R. Steele, Melanie Goldfarb Cancer 125 (21), 3749-3754, 2019-07-10

...The impact of SMN status on overall survival (OS) was evaluated.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Of 41,915 patients, 2852 (6.8%) had colon SMNs....

DOI Web Site Web Site 被引用文献1件

Ping Liu, Evgeniy Redekop, Xiang Gao, Wen-Chi Liu, Unni Olsbye, Gabor A. Somorjai Journal of the American Chemical Society 141 (29), 11557-11564, 2019-07-02

DOI Web Site 被引用文献1件

K. Scott Baker, Wendy M. Leisenring, Pamela J. Goodman, Ralph P. Ermoian, Mary E. Flowers, G. Schoch, Rainer Storb, Brenda M. Sandmaier, H. Joachim Deeg Blood 133 (26), 2790-2799, 2019-06-27

...The cumulative incidence of SMNs increases with follow-up time; thus, HCT survivors require lifetime monitoring for early detection and effective therapy of SMNs.</jats:p>...

DOI PDF 被引用文献4件

RHESI KRISTIANA, MADA TRIANDALA SIBERO, MACELLYNE YOHANNA FARISA, DIAH AYUNINGRUM, DIO DIRGANTARA, MUHAMMAD HANAFI, OCKY KARNA RADJASA, AGUS SABDONO, AGUS TRIANTO Biodiversitas Journal of Biological Diversity 20 (7), 1811-, 2019-06-06

...The MIC tests showed that the best acivity was isolate SM-S-9-15 and SM-N-3-7....

DOI Web Site 被引用文献1件

Kevin A Kaifer, Eric Villalón, Benjamin S O'Brien, Samantha L Sison, Caley E Smith, Madeline E Simon, Jose Marquez, Siri O'Day, Abigail E Hopkins, Rachel Neff, Hansjörg Rindt, Allison D Ebert, Christian L Lorson Human Molecular Genetics 28 (19), 3199-3210, 2019-05-20

...<jats:title>Abstract</jats:title> <jats:p>Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in survival motor neuron 1 (SMN1)....

DOI PDF PDF 被引用文献1件

Mert Karakaya, Cem Paketci, Janine Altmueller, Holger Thiele, Irmgard Hoelker, Uluc Yis, Brunhilde Wirth American Journal of Medical Genetics Part A 179 (8), 1580-1584, 2019-05-18

...Abstract</jats:title><jats:p>Infantile hereditary lower motor neuron disorders beyond 5q–spinal muscular atrophy (5q‐SMA) are usually caused by mutations other than deletions or mutations in <jats:italic>SMN1...

DOI Web Site Web Site ほか1件 被引用文献1件

Annuska Strunk, Andre Abbes, Antoine Stuitje, Chris Hettinga, Eline Sepers, Reinier Snetselaar, Jan Schouten, Fay-Lynn Asselman, Inge Cuppen, Henny Lemmink, W. van der Pol, Henk Engel International Journal of Neonatal Screening 5 (2), 21-, 2019-05-15

...the SMN1 gene, and not for SMN2 quantification....

DOI Web Site 被引用文献3件

Erin E. Neil, Elizabeth K. Bisaccia The Journal of Pediatric Pharmacology and Therapeutics 24 (3), 194-203, 2019-05-01

...It alters SMN2 pre-RNA splicing so exon 7 is included, increasing expression of functional SMN protein....

DOI PDF 被引用文献2件

Sun Mi Kim, Ji Sun Hong, Kyoung Joon Min, Doug Hyun Han Psychosomatic Medicine 81 (3), 313-318, 2019-04

...Patients with SSD also had increased FC between the SMN and DMN, SMN and salience network, SMN and DAN, and salience network and DAN (<jats:italic toggle="yes">t</jats:italic> = 5.10–7.47, all false discovery...

DOI Web Site 被引用文献1件

Kazuki Ohuchi, Michinori Funato, Yuta Yoshino, Shiori Ando, Satoshi Inagaki, Arisu Sato, Chizuru Kawase, Junko Seki, Toshio Saito, Hisahide Nishio, Shinsuke Nakamura, Masamitsu Shimazawa, Hideo Kaneko, Hideaki Hara Scientific Reports 9 (1), 2019-03-06

...The disease is mainly caused by low level of the survival motor neuron (SMN) protein, which is coded by two genes, namely <jats:italic>SMN1</jats:italic> and <jats:italic>SMN2</jats:italic>, but leads...

DOI PDF Web Site 被引用文献1件 参考文献47件

Sanjeev Dasari, August Andersson, Srinivas Bikkina, Henry Holmstrand, Krishnakant Budhavant, Sreedharan Satheesh, Eija Asmi, Jutta Kesti, John Backman, Abdus Salam, Deewan Singh Bisht, Suresh Tiwari, Zahid Hameed, Örjan Gustafsson Science Advances 5 (1), eaau8066-, 2019-01-04

<jats:p>Climate-warming brown carbon aerosols lose warming capacity during atmospheric transport.</jats:p>

DOI Web Site 被引用文献4件

Rokas Sažinas, Martin F. Sunding, Annett Thøgersen, Isao Sakaguchi, Truls Norby, Tor Grande, Jonathan M. Polfus Journal of Materials Chemistry A 7 (8), 3848-3856, 2019

<p>Surface formation of BaCO₃ mainly proceeds by transfer of Y to the Ba-site while a BaZrO₃ formula unit is consumed.</p>

DOI Web Site 被引用文献1件

Malte Nielsen, Anders Hafreager, Rasmus Yding Brogaard, Kristof De Wispelaere, Hanne Falsig, Pablo Beato, Veronique Van Speybroeck, Stian Svelle Catalysis Science & Technology 9 (14), 3721-3725, 2019

<p>Water molecules cooperate to facilitate Al–O bond hydrolysis during zeolite dealumination at real steaming conditions.</p>

DOI Web Site 被引用文献1件

齋藤 加代子 神経治療学 36 (3), 311-316, 2019

...The functional full length survival motor neuron (SMN) protein is only minimally produced by the <i>SMN2</i> gene in patients with SMA....

DOI 医中誌

中島 孝 日本重症心身障害学会誌 44 (1), 151-157, 2019

...4．脊髄性筋萎縮症治療におけるヌシネルセン 脊髄性筋萎縮症（SMA）は下位運動ニューロン病でSurvival Motor Neuron 1（SMN1）遺伝子の変異または欠失により発症する。人には高い相同性のある遺伝子であるSMN2を持つが、exon 7の一塩基置換によりSMN2ではexon 7がskipされ､機能しないΔ7-SMN蛋白となっていることがわかった。...

DOI Web Site 医中誌

鎌塚 香央里, 佐藤 優衣, 笹川 古都音, 福村 忍, 山本 晃代, 川村 健太郎, 小塚 直樹 理学療法学Supplement 46S1 (0), J-54_1-J-54_1, 2019

...</p><p>【症例】1歳5か月，女児．在胎40週0日，出生体重3,174g，仮死無く出生．妊娠・分娩経過に異常は無かったが，1か月検診時に両下肢の筋緊張低下を指摘され，3か月齢で近医を受診した．舌の線維束性攣縮を認め，精査加療目的に当院入院となった．4か月齢時，遺伝子検査によりSMN1 0コピー，SMN2 2コピーと判明し，SMAⅠ型の確定診断に至った．...

DOI

Emma Tabe Eko Niba, Rochmah Mawaddah Ar, Harahap Nur Imma Fatimah, 粟野 宏之, 森岡 一朗, 飯島 一誠, Takeshima Yasuhiro, Saito Toshio, Saito Kayoko, Takeuchi Atsuko, Poh San Lai, Bouike Yoshihiro, Matsuo Masafumi, 西尾 久英, 篠原 正和 The Kobe journal of the medical sciences 65 (2), 49-53, 2019

DOI HANDLE 医中誌

戸谷 博希 ファルマシア 55 (7), 699-699, 2019

RNAは遺伝情報の伝達やタンパク質合成に関わる生命に必須の分子であり，多くの疾患に関与している．4種類の核酸塩基とリボース，リン酸基から構成されており，電荷および親水性が大きいため，タンパク質とは物理化学的な性質が大きく異なる．そのため従来のタンパク質を標的とした低分子創薬の手法で，RNAの標的部位に特異的に相互作用可能な低分子化合物を創出するのは困難であると考えられていた．そのようななか，Da…

DOI 医中誌

Emma Tabe Eko Niba, Rochmah Mawaddah Ar, Harahap Nur Imma Fatimah, 粟野 宏之, 森岡 一朗, 飯島 一誠, Takeshima Yasuhiro, Saito Toshio, Saito Kayoko, Takeuchi Atsuko, Poh San Lai, Bouike Yoshihiro, Matsuo Masafumi, 西尾 久英, 篠原 正和 The Kobe journal of the medical sciences 65 (2), 44-48, 2019

DOI HANDLE 医中誌

Momoko Takagi, Kohei Hamano, Hiroki Takagi, Takayuki Morimoto, Kazuya Akimitsu, Ryohei Terauchi, Ken Shirasu, Kazuya Ichimura Plant and Cell Physiology 60 (4), 778-787, 2018-12-27

DOI PDF 被引用文献3件 参考文献42件

Dimitrios K. Pappas, Elisa Borfecchia, Michael Dyballa, Kirill A. Lomachenko, Andrea Martini, Gloria Berlier, Bjørnar Arstad, Carlo Lamberti, Silvia Bordiga, Unni Olsbye, Stian Svelle, Pablo Beato ChemCatChem 11 (1), 621-627, 2018-12-07

<jats:title>Abstract</jats:title><jats:p>Cu‐exchanged zeolites with the Ferrierite topology were investigated in the direct CH<jats:sub>4</jats:sub> to CH<jats:sub>3</jats:sub>OH conversion. Samples …

DOI Web Site Web Site ほか1件 被引用文献2件

Noemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Dietrich Matern, Devin Oglesbee Clinical Chemistry 64 (12), 1753-1761, 2018-12-01

...SMA is frequently caused by homozygous deletions that include exon 7 of the survival motor neuron gene SMN1, and its clinical course is influenced by the copy number of a nearby 5q SMN1 paralog, SMN2....

DOI PDF 被引用文献1件

Paula Piilonen, F. Sutherland, Martin Danišík, Glenn Poirier, John Valley, Ralph Rowe Minerals 8 (12), 556-, 2018-11-30

...Incompatible element depletion with increasing Yb/SmN from core to rim at ~ constant Hf suggests single stage growth....

DOI Web Site 被引用文献1件

Atwood K. Cheung, Brian Hurley, Ryan Kerrigan, Lei Shu, Donovan N. Chin, Yiping Shen, Gary O’Brien, Moo Je Sung, Ying Hou, Jake Axford, Emma Cody, Robert Sun, Aleem Fazal, Cary Fridrich, Carina C. Sanchez, Ronald C. Tomlinson, Monish Jain, Lin Deng, Keith Hoffmaster, Cheng Song, Mailin Van Hoosear, Youngah Shin, Rebecca Servais, Christopher Towler, Marc Hild, Daniel Curtis, William F. Dietrich, Lawrence G. Hamann, Karin Briner, Karen S. Chen, Dione Kobayashi, Rajeev Sivasankaran, Natalie A. Dales Journal of Medicinal Chemistry 61 (24), 11021-11036, 2018-11-08

DOI Web Site Web Site 被引用文献1件

Julian Holzinger, Malte Nielsen, Pablo Beato, Rasmus Yding Brogaard, Carlo Buono, Michael Dyballa, Hanne Falsig, Jørgen Skibsted, Stian Svelle The Journal of Physical Chemistry C 123 (13), 7831-7844, 2018-11-05

DOI Web Site 被引用文献1件

Kevin A. Strauss, Vincent J. Carson, Karlla W. Brigatti, Millie Young, Donna L. Robinson, Christine Hendrickson, Michael D. Fox, Robert M. Reed, Erik G. Puffenberger, William Mackenzie, Freeman Miller Journal of Pediatric Orthopaedics 38 (10), e610-e617, 2018-11

...sec> <jats:title>Methods:</jats:title> <jats:p>Device safety and tolerability were tested in 10 SMA patients (age, 5.4 to 30.5 y; 80% with 3 copies of <jats:italic toggle="yes">SMN2...

DOI Web Site 被引用文献1件

Miaojin Zhou, Zhiqing Hu, Liyan Qiu, Tao Zhou, Mai Feng, Qian Hu, Baitao Zeng, Zhuo Li, Qianru Sun, Yong Wu, Xionghao Liu, Lingqian Wu, Desheng Liang Human Gene Therapy 29 (11), 1252-1263, 2018-11

DOI Web Site Web Site 被引用文献1件

Teresa Gidaro, Laurent Servais Developmental Medicine & Child Neurology 61 (1), 19-24, 2018-09-17

...jats:styled-content style="fixed-case">SMA</jats:styled-content>) is a recessive disorder caused by a mutation in the survival motor neuron 1 gene (<jats:italic><jats:styled-content style="fixed-case">SMN...

DOI Web Site Web Site ほか1件 被引用文献3件

Jin Li, Mikako Ito, Bisei Ohkawara, Akio Masuda, Kinji Ohno Scientific Reports 8 (1), 13577-, 2018-09-11

...Rspo2 is expressed highly in spinal motor neurons (SMNs) and marginally in the skeletal muscle, but the origin of Rspo2 at the NMJ remains elusive....

DOI PDF Web Site 被引用文献4件 参考文献52件

Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Yogik Onky Silvana Wijaya, Toshio Saito, Kayoko Saito, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Poh San Lai, Masafumi Matsuo, Hisahide Nishio, Masakazu Shinohara Brain and Development 40 (8), 670-677, 2018-09

DOI Web Site Web Site 被引用文献1件 参考文献25件

Chitra C Iyer, Kaitlyn M Corlett, Aurélie Massoni-Laporte, Sandra I Duque, Narasimhan Madabusi, Sarah Tisdale, Vicki L McGovern, Thanh T Le, Phillip G Zaworski, W David Arnold, Livio Pellizzoni, Arthur H M Burghes Human Molecular Genetics 27 (19), 3404-3416, 2018-08-10

DOI PDF 被引用文献1件

齋藤 加代子 日本内科学会雑誌 107 (8), 1494-1500, 2018-08-10

<p>2016年9月，FDA（Food and Drug Administration）がDuchenne型筋ジストロフィーに対し，エクソンスキップを機序とする核酸医薬品EXONDYS 51^TM（eteplirsen）を迅速承認した．脊髄性筋萎縮症（spinal muscular …

DOI Web Site Web Site ほか1件 参考文献7件

Stylianos Ravanidis, Fedon-Giasin Kattan, Epaminondas Doxakis International Journal of Molecular Sciences 19 (8), 2280-, 2018-08-03

...This review discusses the roles of Pumilio, Staufen, IGF2BP, FMRP, Sam68, CPEB, NOVA, ELAVL, SMN, TDP43, FUS, TAF15, and TIA1/TIAR in RNA metabolism by analyzing their specific molecular and cellular function...

DOI Web Site 被引用文献1件

Giuseppina Sgandurra, Laura Biagi, Leonardo Fogassi, Elisa Sicola, Adriano Ferrari, Andrea Guzzetta, Michela Tosetti, Giovanni Cioni Neural Plasticity 2018 1-15, 2018-07-25

...Moreover, UCP and TD children carried out a further fMRI session to explore SMN in both an active motor and passive sensory task....

DOI PDF XML 被引用文献1件

Hasane Ratni, Martin Ebeling, John Baird, Stefanie Bendels, Johan Bylund, Karen S. Chen, Nora Denk, Zhihua Feng, Luke Green, Melanie Guerard, Philippe Jablonski, Bjoern Jacobsen, Omar Khwaja, Heidemarie Kletzl, Chien-Ping Ko, Stefan Kustermann, Anne Marquet, Friedrich Metzger, Barbara Mueller, Nikolai A. Naryshkin, Sergey V. Paushkin, Emmanuel Pinard, Agnès Poirier, Michael Reutlinger, Marla Weetall, Andreas Zeller, Xin Zhao, Lutz Mueller Journal of Medicinal Chemistry 61 (15), 6501-6517, 2018-07-25

DOI Web Site 被引用文献6件

Maneka Chitiprolu, Chantal Jagow, Veronique Tremblay, Emma Bondy-Chorney, Geneviève Paris, Alexandre Savard, Gareth Palidwor, Francesca A. Barry, Lorne Zinman, Julia Keith, Ekaterina Rogaeva, Janice Robertson, Mathieu Lavallée-Adam, John Woulfe, Jean-François Couture, Jocelyn Côté, Derrick Gibbings Nature Communications 9 (1), 2794-, 2018-07-18

...This requires p62 to associate via the Tudor protein SMN with proteins, including FUS, that are symmetrically methylated on arginines....

DOI PDF Web Site 被引用文献5件

Meaghan Van Alstyne, Christian M. Simon, S. Pablo Sardi, Lamya S. Shihabuddin, George Z. Mentis, Livio Pellizzoni Genes & Development 32 (15-16), 1045-1059, 2018-07-16

...Importantly, increased skipping of Mdm2 and Mdm4 exons regulated by SMN is necessary and sufficient to synergistically elicit robust p53 activation in wild-type mice....

DOI Web Site 被引用文献1件

Melanie K. Claborn, Debra L. Stevens, Cheri K. Walker, Brooke L. Gildon Annals of Pharmacotherapy 53 (1), 61-69, 2018-07-16

...Data Sources: An English-language literature search of PubMed and MEDLINE (1946 to June 2018) was performed using the terms nusinersen, ISIS-SMN (Rx), and spinal muscular atrophy....

DOI Web Site Web Site 被引用文献1件

Laura Alías, Sara Bernal, Maite Calucho, Elisabeth Martínez, Francesca March, Pia Gallano, Pablo Fuentes-Prior, Anna Abuli, Clara Serra-Juhe, Eduardo F. Tizzano European Journal of Human Genetics 26 (10), 1554-1557, 2018-06-14

DOI PDF Web Site 被引用文献1件

Natalia Rodriguez-Muela, Andrey Parkhitko, Tobias Grass, Rebecca M. Gibbs, Erika M. Norabuena, Norbert Perrimon, Rajat Singh, Lee L. Rubin Journal of Clinical Investigation 128 (7), 3008-3023, 2018-06-11

DOI Web Site 被引用文献4件

Binkai Chi, Jeremy D. O’Connell, Tomohiro Yamazaki, Jaya Gangopadhyay, Steven P. Gygi, Robin Reed Scientific Reports 8 (1), 2018-06-08

...Among the shared components are multiple ALS and Spinal muscular Atrophy (SMA)-causative proteins and numerous discrete complexes, including the SMN complex, transcription factor complexes, and RNA processing...

DOI PDF Web Site 被引用文献3件 参考文献62件

Loren L. Flynn, Chalermchai Mitrpant, Ianthe L. Pitout, Sue Fletcher, Steve D. Wilton Molecular Therapy - Nucleic Acids 11 91-102, 2018-06

DOI Web Site Web Site 被引用文献1件

Amparo Garcia-Lopez, Francesca Tessaro, Hendrik R. A. Jonker, Anna Wacker, Christian Richter, Arnaud Comte, Nikolaos Berntenis, Roland Schmucki, Klas Hatje, Olivier Petermann, Gianpaolo Chiriano, Remo Perozzo, Daniel Sciarra, Piotr Konieczny, Ignacio Faustino, Guy Fournet, Modesto Orozco, Ruben Artero, Friedrich Metzger, Martin Ebeling, Peter Goekjian, Benoît Joseph, Harald Schwalbe, Leonardo Scapozza Nature Communications 9 (1), 2018-05-23

...<jats:title>Abstract</jats:title><jats:p>Modification of <jats:italic>SMN2</jats:italic> exon 7 (E7) splicing is a validated therapeutic strategy against spinal muscular atrophy (SMA)....

DOI PDF Web Site 被引用文献1件

Jingxin Wang, Peter G. Schultz, Kristen A. Johnson Proceedings of the National Academy of Sciences 115 (20), E4604-, 2018-04-30

...) and KH-type splicing regulatory protein (KHSRP) to the SMN2 pre-mRNA complex....

DOI Web Site Web Site 被引用文献1件

Abhishek Bavle, Sayani Tewari, Amy Sisson, Murali Chintagumpala, Michael Anderson, Arnold C. Paulino Pediatric Blood & Cancer 65 (8), e27095-, 2018-04-25

...Fifty‐eight percent of SNs were malignant; high‐grade glioma was the most common SMN (15/33; 45%) and meningioma, the most common SBN (16/24; 67%)....

DOI Web Site Web Site 被引用文献2件

Abdelouahab El kharbachi, Yang Hu, Magnus H. Sørby, Per Erik Vullum, Jan Petter Mæhlen, Helmer Fjellvåg, Bjørn C. Hauback The Journal of Physical Chemistry C 122 (16), 8750-8759, 2018-04-04

DOI Web Site 被引用文献4件

Laerte L. Patera, Federico Bianchini, Cristina Africh, Carlo Dri, German Soldano, Marcelo M. Mariscal, Maria Peressi, Giovanni Comelli Science 359 (6381), 1243-1246, 2018-03-16

<jats:title>Watching graphene grow</jats:title> <jats:p> The growth of graphene on metal surfaces can be catalyzed by mobile surface metal atoms. Patera …

DOI Web Site Web Site 被引用文献1件

Frank Curmi, Ruben J. Cauchi Biochemical Society Transactions 46 (2), 329-341, 2018-03-09

...This review article focuses on the known roles of Gemin3, first as a core member of the survival motor neuron (SMN) complex, in small nuclear ribonucleoprotein biogenesis....

DOI PDF 被引用文献2件

Maite Calucho, Sara Bernal, Laura Alías, Francesca March, Adoración Venceslá, Francisco J. Rodríguez-Álvarez, Elena Aller, Raquel M. Fernández, Salud Borrego, José M. Millán, Concepción Hernández-Chico, Ivon Cuscó, Pablo Fuentes-Prior, Eduardo F. Tizzano Neuromuscular Disorders 28 (3), 208-215, 2018-03

DOI Web Site Web Site 被引用文献8件

Hsing‐Jung Lai, Chien‐Lin Chen, Li‐Kai Tsai Annals of Neurology 83 (3), 494-507, 2018-03

...</jats:p></jats:sec><jats:sec><jats:title>Interpretation</jats:title><jats:p>This study shows that increased HCN current underlies the pathophysiology of SMA and can be a novel non‐SMN target for SMA therapy...

DOI Web Site Web Site 被引用文献1件

Christian Hinderer, Nathan Katz, Elizabeth L. Buza, Cecilia Dyer, Tamara Goode, Peter Bell, Laura K. Richman, James M. Wilson Human Gene Therapy 29 (3), 285-298, 2018-03

DOI Web Site Web Site 被引用文献14件

JinLi Bai, YuJin Qu, YanYan Cao, Lan Yang, Lin Ge, YuWei Jin, Hong Wang, Fang Song Gene 644 49-55, 2018-02

DOI Web Site Web Site 被引用文献1件

Kenyu Ito, Bisei Ohkawara, Hideki Yagi, Hiroaki Nakashima, Mikito Tsushima, Kyotaro Ota, Hiroyuki Konishi, Akio Masuda, Shiro Imagama, Hiroshi Kiyama, Naoki Ishiguro, Kinji Ohno Scientific Reports 8 (1), 434-, 2018-01-11

...Laser capture microdissection of the mouse spinal motor neurons (SMNs) revealed that <jats:italic>Fgf18</jats:italic> mRNA is highly expressed in SMNs in adults....

DOI PDF Web Site 被引用文献4件 参考文献45件

Luke W. Thompson, Kim D. Morrison, Sally L. Shirran, Ewout J. N. Groen, Tom H. Gillingwater, Catherine H. Botting, Judith E. Sleeman Journal of Cell Science 2018-01-01

...SMN has been implicated in transport of mRNA in neural cells for local translation....

DOI PDF PDF ほか1件 被引用文献1件

Dorota Sulejczak, Stanisław J. Chrapusta, Dorota Dziewulska, Janina Rafałowska Folia Neuropathologica 56 (4), 308-320, 2018

DOI Web Site 被引用文献1件

Ingo D. Meier, Michael P. Walker, A. Gregory Matera Biology Open 2018-01-01

...When crossed onto a severe SMA mutant background, heterozygous loss of Gemin4 failed to modify the early postnatal mortality phenotype of SMA type I (Smn−/−;SMN2+/+) mice....

DOI PDF PDF ほか1件 被引用文献1件

Elisa Borfecchia, Pablo Beato, Stian Svelle, Unni Olsbye, Carlo Lamberti, Silvia Bordiga Chemical Society Reviews 47 (22), 8097-8133, 2018

<p>We review the structural chemistry and reactivity of copper-exchanged molecular sieves with chabazite (CHA) topology, as an industrially applied catalyst in ammonia mediated reduction of harmful …

DOI Web Site 被引用文献11件

Abdelouahab El Kharbachi, Hiroki Uesato, Hironori Kawai, Sigurd Wenner, Hiroki Miyaoka, Magnus H. Sørby, Helmer Fjellvåg, Takayuki Ichikawa, Bjørn C. Hauback RSC Advances 8 (41), 23468-23474, 2018

<p>The findings point to a means of guided formation of MgH₂–CoO conversion-type nanocomposite electrode for all-solid-state Li-ion batteries.</p>

DOI Web Site 被引用文献4件

水上 和実, 板橋 大輔, 相本 道宏, 西藤 将之 鉄と鋼 104 (11), 634-639, 2018

...from steel matrix would be exchanged with Mn²⁺ ion on the MnS surface during the etching process, leading to a formation of Cu_xS-MnS sulfide complex....

DOI Web Site Web Site 被引用文献1件 参考文献13件

Ohuchi Kazuki, Funato Michinori, Ando Shiori, Inagaki Satoshi, Kawase Chizuru, Seki Junko, Nakamura Shinsuke, Shimazawa Masamitsu, Kaneko Hideo, Hara Hideaki 日本薬理学会年会要旨集 WCP2018 (0), PO1-1-102-, 2018

...Second, Notch signaling and astrogenic signal were activated in the spinal cord of SMNΔ7 mice at in early (PND5) and late stages (PND11) of SMNΔ7 mice....

DOI Web Site

Ando Shiori, Ohuchi Kazuki, Funato Michinori, Nakamura Shinsuke, Shimazawa Masamitsu, Kaneko Hideo, Hara Hideaki 日本薬理学会年会要旨集 WCP2018 (0), PO4-1-117-, 2018

...SMA is caused by low expression level of survival motor neuron (SMN) protein subsequent to deletion or mutation of SMN 1 gene....

DOI Web Site

Krainer Adrian R. 日本薬理学会年会要旨集 WCP2018 (0), SY30-4-, 2018

...The small amount of full-length mRNA and protein expressed from <i>SMN2</i> only partially compensates for the loss of <i>SMN1</i>....

DOI Web Site

佐光 亘, 阿部 考志, 原田 雅史, 和泉 唯信, 梶 龍兒 臨床神経生理学 46 (1), 9-15, 2018

...ICAにより, sensorimotor network (SMN), Salience network (SN), right frontoparietal network (RFPN) などを同定した。両群間に各ネットワーク発現量の有意な差は認められなかったが, ALSにおいてのみ, SMN・RFPN・SN間に有意な相関が見出された。...

DOI 医中誌

埜中 征哉 日本重症心身障害学会誌 43 (1), 79-82, 2018

...責任遺伝子はSMN1で、SMN1の欠失または変異でSMNタンパクが合成されない。人にはSMN2というバックアップ遺伝子がある。この遺伝子を操作することにより、治療の可能性が出てきて、治療がすでに始まっている。歴史的な朗報である。...

DOI Web Site 医中誌

中島 孝 日本重症心身障害学会誌 43 (2), 243-243, 2018

...脊髄性筋萎縮症はSMN1遺伝子の多様性により、SMN蛋白が十分産生できないことで発症するが、ヌシネルセンという画期的なアンチセンス核酸医薬によりSMN2遺伝子からSMN蛋白を作りだす治療法が開発され、脊髄性筋萎縮症患者の画期的治療法となり2017年市販された。...

DOI 医中誌

大村 剛史, 佐伯 誠治, 荻原 一隆, 飛田 公理, Yan Ling, 鳥居 慎一 日本薬理学雑誌 152 (3), 147-159, 2018

...である．2017年7月3日に乳児型のSMAへの承認取得後，2017年9月22日に乳児型以外のSMAの効能追加が承認された．ヌシネルセンは，エクソン7を含有する<i>SMN2</i> mRNA産生により完全長の機能性SMNタンパク質産生量を増加させる2'-O-（2-メトキシエチル）（2'-MOE）ASOとして，スクリーニングにより見出された．ヌシネルセンは，<i>SMN2</i> mRNA前駆体に結合...

DOI Web Site Web Site ほか2件 参考文献22件

Antonio Piras, Lorenzo Schiaffino, Marina Boido, Valeria Valsecchi, Michela Guglielmotto, Elena De Amicis, Julien Puyal, Ana Garcera, Elena Tamagno, Rosa M Soler, Alessandro Vercelli Cell Death & Disease 8 (12), 3223-, 2017-12-20

...Abstract</jats:title><jats:p>Spinal muscular atrophy (SMA) is a recessive autosomal neuromuscular disease, due to homozygous mutations or deletions in the telomeric survival motoneuron gene 1 (<jats:italic>SMN1...

DOI PDF Web Site 被引用文献1件

Patrick Marks, Sarah Garcia, Alvaro Martinez Barrio, Kamila Belhocine, Jorge Bernate, Rajiv Bharadwaj, Keith Bjornson, Claudia Catalanotti, Josh Delaney, Adrian Fehr, Ian T. Fiddes, Brendan Galvin, Haynes Heaton, Jill Herschleb, Christopher Hindson, Esty Holt, Cassandra B. Jabara, Susanna Jett, Nikka Keivanfar, Sofia Kyriazopoulou-Panagiotopoulou, Monkol Lek, Bill Lin, Adam Lowe, Shazia Mahamdallie, Shamoni Maheshwari, Tony Makarewicz, Jamie Marshall, Francesca Meschi, Chris O’keefe, Heather Ordonez, Pranav Patel, Andrew Price, Ariel Royall, Elise Ruark, Sheila Seal, Michael Schnall-Levin, Preyas Shah, Stephen Williams, Indira Wu, Andrew Wei Xu, Nazneen Rahman, Daniel MacArthur, Deanna M. Church 2017-12-08

...</jats:italic><jats:sub><jats:italic>1</jats:italic></jats:sub> and <jats:italic>SMN</jats:italic><jats:sub><jats:italic>2</jats:italic></jats:sub>....

DOI Web Site 被引用文献1件

Ben Margalit, Brian D. Metzger The Astrophysical Journal Letters 850 (2), L19-, 2017-11-21

...A fraction of the enormous rotational energy necessarily released by the SMNS during this process is transferred to the ejecta, either into the GRB jet (energy <jats:inline-formula>...

DOI Web Site Web Site 被引用文献30件

Manaswini Sivaramakrishnan, Kathleen D. McCarthy, Sébastien Campagne, Sylwia Huber, Sonja Meier, Angélique Augustin, Tobias Heckel, Hélène Meistermann, Melanie N. Hug, Pascale Birrer, Ahmed Moursy, Sarah Khawaja, Roland Schmucki, Nikos Berntenis, Nicolas Giroud, Sabrina Golling, Manuel Tzouros, Balazs Banfai, Gonzalo Duran-Pacheco, Jens Lamerz, Ying Hsiu Liu, Thomas Luebbers, Hasane Ratni, Martin Ebeling, Antoine Cléry, Sergey Paushkin, Adrian R. Krainer, Frédéric H.-T. Allain, Friedrich Metzger Nature Communications 8 (1), 2017-11-14

..., thereby stabilizing a yet unidentified ribonucleoprotein (RNP) complex that is critical to the specificity of these small molecules for <jats:italic>SMN2</jats:italic> over other genes....

DOI PDF Web Site 被引用文献2件

Mawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya, Nur Imma Fatimah Harahap, Naoya Morisada, Yoshihiro Bouike, Toshio Saito, Yuji Kubo, Kayoko Saito, Poh San Lai, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohara Brain and Development 39 (10), 851-860, 2017-11

DOI Web Site Web Site 被引用文献3件 参考文献31件