Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
Ajiro, Masahiko, Awaya, Tomonari, Kim, Young Jin, Iida, Kei, Denawa, Masatsugu, Tanaka, Nobuo, Kurosawa, Ryo, Matsushima, Shingo, Shibata, Saiko, Sakamoto, Tetsunori, Studer, Lorenz, Krainer, Adrian R, Hagiwara, Masatoshi
Published in Nature communications (23.07.2021)
Published in Nature communications (23.07.2021)
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Journal Article
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
Kurosawa, Ryo, Iida, Kei, Ajiro, Masahiko, Awaya, Tomonari, Yamada, Mamiko, Kosaki, Kenjiro, Hagiwara, Masatoshi
Published in BMC genomics (10.10.2023)
Published in BMC genomics (10.10.2023)
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Journal Article
Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice
Nakano-Kobayashi, Akiko, Awaya, Tomonari, Kii, Isao, Sumida, Yuto, Okuno, Yukiko, Yoshida, Suguru, Sumida, Tomoe, Inoue, Haruhisa, Hosoya, Takamitsu, Hagiwara, Masatoshi
Published in Proceedings of the National Academy of Sciences - PNAS (19.09.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (19.09.2017)
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Author Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
Ajiro, Masahiko, Awaya, Tomonari, Kim, Young Jin, Iida, Kei, Denawa, Masatsugu, Tanaka, Nobuo, Kurosawa, Ryo, Matsushima, Shingo, Shibata, Saiko, Sakamoto, Tetsunori, Studer, Lorenz, Krainer, Adrian R., Hagiwara, Masatoshi
Published in Nature communications (12.10.2021)
Published in Nature communications (12.10.2021)
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Journal Article
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
Yamada, Mamiko, Maeta, Kazuhiro, Suzuki, Hisato, Kurosawa, Ryo, Takenouchi, Toshiki, Awaya, Tomonari, Ajiro, Masahiko, Takeuchi, Atsuko, Nishio, Hisahide, Hagiwara, Masatoshi, Miya, Fuyuki, Matsuo, Masafumi, Kosaki, Kenjiro
Published in Scientific reports (18.03.2024)
Published in Scientific reports (18.03.2024)
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Journal Article
Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model
Ichisima, Jose, Suzuki, Naoya M, Samata, Bumpei, Awaya, Tomonari, Takahashi, Jun, Hagiwara, Masatoshi, Nakahata, Tatsutoshi, Saito, Megumu K
Published in Journal of human genetics (01.05.2019)
Published in Journal of human genetics (01.05.2019)
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Journal Article
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy
Okubo, Mariko, Noguchi, Satoru, Awaya, Tomonari, Hosokawa, Motoyasu, Tsukui, Nobue, Ogawa, Megumu, Hayashi, Shinichiro, Komaki, Hirofumi, Mori-Yoshimura, Madoka, Oya, Yasushi, Takahashi, Yuji, Fukuyama, Tetsuhiro, Funato, Michinori, Hosokawa, Yousuke, Kinoshita, Satoru, Matsumura, Tsuyoshi, Nakamura, Sadao, Oshiro, Azusa, Terashima, Hiroshi, Nagasawa, Tetsuro, Sato, Tatsuharu, Shimada, Yumi, Tokita, Yasuko, Hagiwara, Masatoshi, Ogata, Katsuhisa, Nishino, Ichizo
Published in Human genetics (01.01.2023)
Published in Human genetics (01.01.2023)
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Journal Article
Noniron deficiency microcytic anemia, dysmorphic features, and intellectual disability: Diagnostic clues for α-thalassemia/mental retardation associated with chromosome 16 syndrome
Tamura, Kentaro, Awaya, Tomonari, Wada, Takahito, Fujii, Tatsuya, Yoshida, Taketoshi
Published in Pediatrics and neonatology (01.05.2022)
Published in Pediatrics and neonatology (01.05.2022)
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Journal Article
Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome
Kimura, Ryo, Lardenoije, Roy, Tomiwa, Kiyotaka, Funabiki, Yasuko, Nakata, Masatoshi, Suzuki, Shiho, Awaya, Tomonari, Kato, Takeo, Okazaki, Shin, Murai, Toshiya, Heike, Toshio, Rutten, Bart P F, Hagiwara, Masatoshi
Published in Neuropsychopharmacology (New York, N.Y.) (01.09.2020)
Published in Neuropsychopharmacology (New York, N.Y.) (01.09.2020)
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MicroRNA profiling in adults with high-functioning autism spectrum disorder
Nakata, Masatoshi, Kimura, Ryo, Funabiki, Yasuko, Awaya, Tomonari, Murai, Toshiya, Hagiwara, Masatoshi
Published in Molecular brain (21.10.2019)
Published in Molecular brain (21.10.2019)
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Journal Article
Unusual sensory features are related to resting-state cardiac vagus nerve activity in autism spectrum disorders
Matsushima, Kanae, Matsubayashi, Jun, Toichi, Motomi, Funabiki, Yasuko, Kato, Takeo, Awaya, Tomonari, Kato, Toshihiro
Published in Research in autism spectrum disorders (01.05.2016)
Published in Research in autism spectrum disorders (01.05.2016)
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Journal Article
Branchpoints as potential targets of exon-skipping therapies for genetic disorders
Ohara, Hiroaki, Hosokawa, Motoyasu, Awaya, Tomonari, Hagiwara, Atsuko, Kurosawa, Ryo, Sako, Yukiya, Ogawa, Megumu, Ogasawara, Masashi, Noguchi, Satoru, Goto, Yuichi, Takahashi, Ryosuke, Nishino, Ichizo, Hagiwara, Masatoshi
Published in Molecular therapy. Nucleic acids (12.09.2023)
Published in Molecular therapy. Nucleic acids (12.09.2023)
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Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity
Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Maruyama, Shinsuke, Noguchi, Atsuko, Awaya, Tomonari, Ishige, Mika, Ishige, Nobuyuki, Musha, Ikuma, Ajihara, Sayaka, Ohtake, Akira, Naito, Etsuo, Hamada, Yusuke, Kono, Tomotaka, Asada, Tomoko, Sasai, Hideo, Fukao, Toshiyuki, Fujiki, Ryoji, Ohara, Osamu, Bo, Ryosuke, Yamada, Kenji, Kobayashi, Hironori, Hasegawa, Yuki, Yamaguchi, Seiji, Takayanagi, Masaki, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
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Journal Article
Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations
Kuramochi, Yuji, Awaya, Tomonari, Matsuo-Takasaki, Mami, Takami, Miho, An, Yuri, Li, Jingyue, Hemmi, Yasuko, Wakabayashi, Tamami, Arai, Yutaka, Inoue, Jun, Noguchi, Michiya, Nakamura, Yukio, Asaka, Isao, Akimoto, Kazunori, Saito, Megumu K., Hayashi, Yohei
Published in Stem cell research (01.05.2021)
Published in Stem cell research (01.05.2021)
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Journal Article
Spinal muscular atrophy carriers with two SMN1 copies
Ar Rochmah, Mawaddah, Awano, Hiroyuki, Awaya, Tomonari, Harahap, Nur Imma Fatimah, Morisada, Naoya, Bouike, Yoshihiro, Saito, Toshio, Kubo, Yuji, Saito, Kayoko, Lai, Poh San, Morioka, Ichiro, Iijima, Kazumoto, Nishio, Hisahide, Shinohara, Masakazu
Published in Brain & development (Tokyo. 1979) (01.11.2017)
Published in Brain & development (Tokyo. 1979) (01.11.2017)
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Long-term weekly ACTH therapy for relapsed West syndrome in tuberous sclerosis complex: A case report
Nakata, Masatoshi, Kato, Takeo, Ide, Minako, Saito, Keiko, Yoshida, Takeshi, Awaya, Tomonari, Shibata, Minoru, Heike, Toshio
Published in Brain & development (Tokyo. 1979) (01.04.2016)
Published in Brain & development (Tokyo. 1979) (01.04.2016)
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Journal Article
Williams-Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
Kimura, Ryo, Ishii, Yuko, Tomiwa, Kiyotaka, Awaya, Tomonari, Nakata, Masatoshi, Kato, Takeo, Okazaki, Shin, Heike, Toshio, Hagiwara, Masatoshi
Published in Frontiers in genetics (04.09.2018)
Published in Frontiers in genetics (04.09.2018)
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Journal Article
A granulocytosis associated with rufinamide: A case report
Ide, Minako, Kato, Takeo, Nakata, Masatoshi, Saito, Keiko, Yoshida, Takeshi, Awaya, Tomonari, Heike, Toshio
Published in Brain & development (Tokyo. 1979) (01.09.2015)
Published in Brain & development (Tokyo. 1979) (01.09.2015)
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MRI gadolinium enhancement precedes neuroradiological findings in acute necrotizing encephalopathy
Yoshida, Takeshi, Tamura, Takuya, Nagai, Yuhki, Ueda, Hiroyuki, Awaya, Tomonari, Shibata, Minoru, Kato, Takeo, Heike, Toshio
Published in Brain & development (Tokyo. 1979) (01.11.2013)
Published in Brain & development (Tokyo. 1979) (01.11.2013)
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