Search Results - "Takata, Atsushi"

Estimating contribution of rare non‐coding variants to neuropsychiatric disorders by Takata, Atsushi

“…Owing to recent advances in DNA sequencing technology, a number of large‐scale comprehensive analyses of genetic variations in protein‐coding regions (i.e.,…”
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The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research by Nakamura, Takumi, Takata, Atsushi

“…Despite enormous efforts employing various approaches, the molecular pathology in the schizophrenia brain remains elusive. On the other hand, the knowledge of…”
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Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci by Takata, Atsushi, Matsumoto, Naomichi, Kato, Tadafumi

“…Detailed analyses of transcriptome have revealed complexity in regulation of alternative splicing (AS). These AS events often undergo modulation by genetic…”
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Automatic Design of Serial Linkage Using Virtual Screw Joint by Takata, Atsushi

“…Here, an automatic design method for a serial link mechanism is proposed. This method outputs all kinematic parameters of joints, position, orientation,…”
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De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia by Takata, Atsushi, Ionita-Laza, Iuliana, Gogos, Joseph A., Xu, Bin, Karayiorgou, Maria

“…We analyze de novo synonymous mutations identified in autism spectrum disorders (ASDs) and schizophrenia (SCZ) with potential impact on regulatory elements…”
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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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Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice by Mukai, Jun, Cannavò, Enrico, Crabtree, Gregg W., Sun, Ziyi, Diamantopoulou, Anastasia, Thakur, Pratibha, Chang, Chia-Yuan, Cai, Yifei, Lomvardas, Stavros, Takata, Atsushi, Xu, Bin, Gogos, Joseph A.

“…SETD1A, a lysine-methyltransferase, is a key schizophrenia susceptibility gene. Mice carrying a heterozygous loss-of-function mutation of the orthologous gene…”
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Dynamics-Based Control and Path Planning Method for Long-Reach Coupled Tendon-Driven Manipulator by Takata, Atsushi, Endo, Gen

“…The Fukushima power station in Japan was affected by a major earthquake and tsunami in March 2011, inspecting the primary containment vessel remains difficult…”
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Loss-of-Function Variants in Schizophrenia Risk and SETD1A as a Candidate Susceptibility Gene by Takata, Atsushi, Xu, Bin, Ionita-Laza, Iuliana, Roos, J. Louw, Gogos, Joseph A., Karayiorgou, Maria

“…Loss-of-function (LOF) (i.e., nonsense, splice site, and frameshift) variants that lead to disruption of gene function are likely to contribute to the etiology…”
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Enhancement of Control Stability Using Double Pulleys for Coupled Tendon-Driven Long-Reach Manipulator “Super Dragon” by Shizume, Yuki, Takata, Atsushi, Endo, Gen

“…The exploration and inspection of narrow spaces in nuclear facilities require the use of long-reach manipulators. Coupled tendon-driven manipulators can…”
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Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder by Nishioka, Masaki, Kazuno, An-a, Nakamura, Takumi, Sakai, Naomi, Hayama, Takashi, Fujii, Kumiko, Matsuo, Koji, Komori, Atsuko, Ishiwata, Mizuho, Watanabe, Yoshinori, Oka, Takashi, Matoba, Nana, Kataoka, Muneko, Alkanaq, Ahmed N., Hamanaka, Kohei, Tsuboi, Takashi, Sengoku, Toru, Ogata, Kazuhiro, Iwata, Nakao, Ikeda, Masashi, Matsumoto, Naomichi, Kato, Tadafumi, Takata, Atsushi

“…Bipolar disorder is a severe mental illness characterized by recurrent manic and depressive episodes. To better understand its genetic architecture, we analyze…”
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GWAS-identified bipolar disorder risk allele in the FADS1/2 gene region links mood episodes and unsaturated fatty acid metabolism in mutant mice by Yamamoto, Hirona, Lee-Okada, Hyeon-Cheol, Ikeda, Masashi, Nakamura, Takumi, Saito, Takeo, Takata, Atsushi, Yokomizo, Takehiko, Iwata, Nakao, Kato, Tadafumi, Kasahara, Takaoki

“…Large-scale genome-wide association studies (GWASs) on bipolar disorder (BD) have implicated the involvement of the fatty acid desaturase ( FADS ) locus. These…”
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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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Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease by Tsuchida, Naomi, Kirino, Yohei, Soejima, Yutaro, Onodera, Masafumi, Arai, Katsuhiro, Tamura, Eiichiro, Ishikawa, Takashi, Kawai, Toshinao, Uchiyama, Toru, Nomura, Shigeru, Kobayashi, Daisuke, Taguri, Masataka, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Nakajima, Hideaki, Miyatake, Satoko, Matsumoto, Naomichi

“…Haploinsufficiency of A20 (HA20) is caused by loss-of-function TNFAIP3 variants. Phenotypic and genetic features of HA20 remain uncertain; therefore, the…”
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De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy by Hamanaka, Kohei, Imagawa, Eri, Koshimizu, Eriko, Miyatake, Satoko, Tohyama, Jun, Yamagata, Takanori, Miyauchi, Akihiko, Ekhilevitch, Nina, Nakamura, Fumio, Kawashima, Takeshi, Goshima, Yoshio, Mohamed, Ahmad Rithauddin, Ch'ng, Gaik-Siew, Fujita, Atsushi, Azuma, Yoshiteru, Yasuda, Ken, Imamura, Shintaro, Nakashima, Mitsuko, Saitsu, Hirotomo, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Matsumoto, Naomichi

“…De novo variants (DNVs) cause many genetic diseases. When DNVs are examined in the whole coding regions of genes in next-generation sequencing analyses,…”
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Whole exome sequencing of fetal structural anomalies detected by ultrasonography by Aoi, Hiromi, Mizuguchi, Takeshi, Suzuki, Toshifumi, Makino, Shintaro, Yamamoto, Yuka, Takeda, Jun, Maruyama, Yojiro, Seyama, Rie, Takeuchi, Shiori, Uchiyama, Yuri, Azuma, Yoshiteru, Hamanaka, Kohei, Fujita, Atsushi, Koshimizu, Eriko, Miyatake, Satoko, Mitsuhashi, Satomi, Takata, Atsushi, Miyake, Noriko, Takeda, Satoru, Itakura, Atsuo, Matsumoto, Naomichi

“…The objective of this study was to evaluate the efficacy of whole exome sequencing (WES) for the genetic diagnosis of cases presenting with fetal structural…”
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Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy by Sakamoto, Masamune, Iwama, Kazuhiro, Sekiguchi, Futoshi, Mashimo, Hideaki, Kumada, Satoko, Ishigaki, Keiko, Okamoto, Nobuhiko, Behnam, Mahdiyeh, Ghadami, Mohsen, Koshimizu, Eriko, Miyatake, Satoko, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi

“…Pontocerebellar hypoplasia (PCH) is currently classified into 13 subgroups and many gene variants associated with PCH have been identified by next generation…”
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Intestinal hypomotility due to longitudinal enterotomy can be alleviated by transverse closure by Kubota, Kunitsugu, Kono, Toru, Shimada, Mitsuo, Takata, Atsushi, Higashijima, Jun, Yoshikawa, Kozo, Tokunaga, Takuya, Fujitsuka, Naoki, Fichera, Alessandro

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

“…Although there are many known Mendelian genes linked to epileptic or developmental and epileptic encephalopathy (EE/DEE), its genetic architecture is not fully…”
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Genetics of child aggression, a systematic review by Koyama, Emiko, Kant, Tuana, Takata, Atsushi, Kennedy, James L., Zai, Clement C.

“…Excessive and persistent aggressiveness is the most common behavioral problem that leads to psychiatric referrals among children. While half of the variance in…”
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