Search Results - "Kato Mitsuhiro"

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome by Nakashima, Mitsuko, Miyajima, Masakazu, Sugano, Hidenori, Iimura, Yasushi, Kato, Mitsuhiro, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Arai, Hajime, Matsumoto, Naomichi

“…Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by capillary malformation (port-wine stains), and choroidal and leptomeningeal vascular…”
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Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency by Kojima, Karin, Nakajima, Takeshi, Taga, Naoyuki, Miyauchi, Akihiko, Kato, Mitsuhiro, Matsumoto, Ayumi, Ikeda, Takahiro, Nakamura, Kazuyuki, Kubota, Tetsuo, Mizukami, Hiroaki, Ono, Sayaka, Onuki, Yoshiyuki, Sato, Toshihiko, Osaka, Hitoshi, Muramatsu, Shin-ichi, Yamagata, Takanori

“…AADC deficiency causes severe motor and intellectual disability as a result of reduced catecholamine levels. Kojima et al. report beneficial effects of gene…”
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Spiky strings in de Sitter space by Kato, Mitsuhiro, Nishii, Kanji, Noumi, Toshifumi, Takeuchi, Toshiaki, Zhou, Siyi

“…A bstract We study semiclassical spiky strings in de Sitter space and the corresponding Regge trajectories, generalizing the analysis in anti-de Sitter space…”
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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice by Aoto, Kazushi, Kato, Mitsuhiro, Akita, Tenpei, Nakashima, Mitsuko, Mutoh, Hiroki, Akasaka, Noriyuki, Tohyama, Jun, Nomura, Yoshiko, Hoshino, Kyoko, Ago, Yasuhiko, Tanaka, Ryuta, Epstein, Orna, Ben-Haim, Revital, Heyman, Eli, Miyazaki, Takehiro, Belal, Hazrat, Takabayashi, Shuji, Ohba, Chihiro, Takata, Atsushi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo

“…Vacuolar H + -ATPases (V-ATPases) transport protons across cellular membranes to acidify various organelles. ATP6V0A1 encodes the a1-subunit of the V0 domain…”
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A new paradigm for West syndrome based on molecular and cell biology by Kato, Mitsuhiro

“…Symptomatic West syndrome has heterogeneous backgrounds. Recently, two novel genes, ARX and CDKL5, have been found to be responsible for cryptogenic West…”
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Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb by Nakashima, Mitsuko, Saitsu, Hirotomo, Takei, Nobuyuki, Tohyama, Jun, Kato, Mitsuhiro, Kitaura, Hiroki, Shiina, Masaaki, Shirozu, Hiroshi, Masuda, Hiroshi, Watanabe, Keisuke, Ohba, Chihiro, Tsurusaki, Yoshinori, Miyake, Noriko, Zheng, Yingjun, Sato, Tatsuhiro, Takebayashi, Hirohide, Ogata, Kazuhiro, Kameyama, Shigeki, Kakita, Akiyoshi, Matsumoto, Naomichi

“…Objective Focal cortical dysplasia (FCD) type IIb is a cortical malformation characterized by cortical architectural abnormalities, dysmorphic neurons, and…”
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Quantizing a multi-pronged open string junction by Asano, Masako, Kato, Mitsuhiro

“…Covariant quantization of a multi-pronged open bosonic string junction is studied beyond static analysis. Its excited states are described by a set of ordinary…”
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Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review by Watanabe, Kazuki, Nakashima, Mitsuko, Kumada, Satoko, Mashimo, Hideaki, Enokizono, Mikako, Yamada, Keitaro, Kato, Mitsuhiro, Saitsu, Hirotomo

“…Heterozygous variants in TUBB encoding one of β-tubulin isotypes are known to cause two overlapping developmental brain disorders, complex cortical dysplasia…”
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Supersymmetric extended string field theory in NSn sector and NSn−1–R sector by Asano, Masako, Kato, Mitsuhiro

“…We construct a class of quadratic gauge invariant actions for extended string fields defined on the tensor product of open superstring state space for multiple…”
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ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report by Moriyama, Kengo, Mizuno, Tomoko, Suzuki, Tomonori, Inaji, Motoki, Maehara, Taketoshi, Fujita, Atsushi, Kato, Mitsuhiro, Matsumoto, Naomichi

“…VariousATP1A3variant-related diseases have been reported, including alternating hemiplegia of childhood; rapid-onset dystonia–parkinsonism; and cerebellar…”
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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome by Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Ohashi, Hirofumi, Kosho, Tomoki, Imai, Yoko, Hibi-Ko, Yumiko, Kaname, Tadashi, Naritomi, Kenji, Kawame, Hiroshi, Wakui, Keiko, Fukushima, Yoshimitsu, Homma, Tomomi, Kato, Mitsuhiro, Hiraki, Yoko, Yamagata, Takanori, Yano, Shoji, Mizuno, Seiji, Sakazume, Satoru, Ishii, Takuma, Nagai, Toshiro, Shiina, Masaaki, Ogata, Kazuhiro, Ohta, Tohru, Niikawa, Norio, Miyatake, Satoko, Okada, Ippei, Mizuguchi, Takeshi, Doi, Hiroshi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi

“…Naomichi Matsumoto and colleagues report mutations in the SWI/SNF chromatin remodeling complex in Coffin-Siris syndrome. Twenty affected individuals (87%)…”
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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms by Nakashima, Mitsuko, Kato, Mitsuhiro, Matsukura, Masaru, Kira, Ryutaro, Ngu, Lock-Hock, Lichtenbelt, Klaske D, van Gassen, Koen L I, Mitsuhashi, Satomi, Saitsu, Hirotomo, Matsumoto, Naomichi

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

“…Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of…”
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PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder by Mizuguchi, Takeshi, Nakashima, Mitsuko, Kato, Mitsuhiro, Yamada, Keitaro, Okanishi, Tohru, Ekhilevitch, Nina, Mandel, Hanna, Eran, Ayelet, Toyono, Miyuki, Sawaishi, Yukio, Motoi, Hirotaka, Shiina, Masaaki, Ogata, Kazuhiro, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi

“…Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing…”
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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation by Kato, Mitsuhiro, Yamagata, Takanori, Kubota, Masaya, Arai, Hiroshi, Yamashita, Sumimasa, Nakagawa, Taku, FujII, Takanari, Sugai, Kenji, Imai, Kaoru, Uster, Tami, Chitayat, David, Weiss, Shelly, Kashii, Hirofumi, Kusano, Ryosuke, Matsumoto, Ayumi, Nakamura, Kazuyuki, Oyazato, Yoshinobu, Maeno, Mari, Nishiyama, Kiyomi, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saito, Kayoko, Hayasaka, Kiyoshi, Matsumoto, Naomichi, Saitsu, Hirotomo

“…Summary Purpose KCNQ2 mutations have been found in patients with benign familial neonatal seizures, myokymia, or early onset epileptic encephalopathy (EOEE)…”
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Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation by Matsushita, Hiroko Baber, Hiraide, Takuya, Hayakawa, Katsumi, Okano, Sozo, Nakashima, Mitsuko, Saitsu, Hirotomo, Kato, Mitsuhiro

“…Ciliopathies are the outcomes of defects of primary cilia structures and functions which cause multisystemic developmental disorders, such as polycystic kidney…”
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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy by Saitsu, Hirotomo, Matsumoto, Naomichi, Kato, Mitsuhiro, Mizuguchi, Takeshi, Hamada, Keisuke, Osaka, Hitoshi, Tohyama, Jun, Uruno, Katsuhisa, Kumada, Satoko, Nishiyama, Kiyomi, Nishimura, Akira, Okada, Ippei, Yoshimura, Yukiko, Hirai, Syu-ichi, Kumada, Tatsuro, Hayasaka, Kiyoshi, Fukuda, Atsuo, Ogata, Kazuhiro

“…Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most severe and earliest forms of…”
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De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy by Nakashima, Mitsuko, Kato, Mitsuhiro, Aoto, Kazushi, Shiina, Masaaki, Belal, Hazrat, Mukaida, Souichi, Kumada, Satoko, Sato, Atsushi, Zerem, Ayelet, Lerman‐Sagie, Tally, Lev, Dorit, Leong, Huey Yin, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Ogata, Kazuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi

“…Objective The cytoplasmic fragile X mental retardation 1 interacting proteins 2 (CYFIP2) is a component of the WASP‐family verprolin‐homologous protein (WAVE)…”
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A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies by Miyamoto, Sachiko, Kato, Mitsuhiro, Sugiyama, Kenji, Horiguchi, Ryo, Nakashima, Mitsuko, Aoto, Kazushi, Mutoh, Hiroki, Saitsu, Hirotomo

“…Brain malformations have heterogeneous genetic backgrounds. Tubulinopathies are a wide range of brain malformations caused by variants in tubulin and…”
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Efficacy of ethosuximide on atonic seizures with KCNB1 mutation by Hoshino, Hiroki, Miya, Fuyuki, Kato, Mitsuhiro, Kanemura, Hideaki

“…Mutations in the potassium voltage-gated channel subfamily B member 1 (KCNB1) gene, encoding the alpha-subunit of voltage-gated potassium channel subfamily 2…”
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