Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Kazuharu Misawa"'
Autor:
Yuki Yoshioka, Juliana Bosso Taniguchi, Hidenori Homma, Takuya Tamura, Kyota Fujita, Maiko Inotsume, Kazuhiko Tagawa, Kazuharu Misawa, Naomichi Matsumoto, Masanori Nakagawa, Haruhisa Inoue, Hikari Tanaka, Hitoshi Okazawa
Publikováno v:
Communications Medicine, Vol 3, Iss 1, Pp 1-15 (2023)
Abstract Background Charcot-Marie-Tooth disease type 1A (CMT1A) is one of the most common hereditary peripheral neuropathies caused by duplication of 1.5 Mb genome region including PMP22 gene. We aimed to correct the duplication in human CMT1A patien
Externí odkaz:
https://doaj.org/article/b04c0feb3d2348619d68df90a185af7f
Autor:
Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Masahiro Takeda, Takanori Ochi, Monami Kishi, Toshifumi Suzuki, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Takashi Yao, Hidenori Ito, Atsuo Itakura, Kazuhiro Ogata, Koh-ichi Nagata, Naomichi Matsumoto
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract RAC1 at 7p22.1 encodes a RAC family small GTPase that regulates actin cytoskeleton organization and intracellular signaling pathways. Pathogenic RAC1 variants result in developmental delay and multiple anomalies. Here, exome sequencing ident
Externí odkaz:
https://doaj.org/article/94a3131121604b75b7d26b0fca9cac45
Autor:
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract The Drosophila behavior/human splicing protein family is involved in numerous steps of gene regulation. In humans, this family consists of three proteins: SFPQ, PSPC1, and NONO. Hemizygous loss-of-function (LoF) variants in NONO cause a deve
Externí odkaz:
https://doaj.org/article/5f0d682f4c2d4892ad0ade18f7ec2c5c
Autor:
Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, Masaki Okubo, Taishi Wada, Kohei Hamanaka, Naohisa Ueda, Hitaru Kishida, Gaku Minase, Atsuhiro Matsuno, Minori Kodaira, Katsuhisa Ogata, Rumiko Kato, Atsuhiko Sugiyama, Ayako Sasaki, Takabumi Miyama, Mai Satoh, Yuri Uchiyama, Naomi Tsuchida, Haruka Hamanoue, Kazuharu Misawa, Kiyoshi Hayasaka, Yoshiki Sekijima, Hiroaki Adachi, Kunihiro Yoshida, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)
Abstract We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic methods. We employed the real-time target enrichment system of the nanopore GridION sequence
Externí odkaz:
https://doaj.org/article/5c4b0d3d0ea14f9fa7378606182803e5
Autor:
Kazuharu Misawa
Publikováno v:
Advanced Genetics, Vol 3, Iss 3, Pp n/a-n/a (2022)
Abstract Recent advances in sequencing technologies enable genome‐wide analyses for thousands of individuals. The sequential kernel association test (SKAT) is a widely used method to test for associations between a phenotype and a set of rare varia
Externí odkaz:
https://doaj.org/article/88b7c09a02934eb590b3a092a8e51991
Autor:
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/00d5b56809514356b2e67bc588e95ba7
Autor:
Olivier Gervais, Kazuko Ueno, Yosuke Kawai, Yuki Hitomi, Kazuharu Misawa, Shunsuke Teraguchi, Yen-Yen Wang, Katsushi Tokunaga, Masao Nagasaki
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 10, Iss 7, Pp 2221-2228 (2020)
Over the past few decades, obesity has become a public health issue of global concern. Even though disparities exist between human populations, e.g., the higher liver fat content of the Japanese despite a lower body mass index (BMI), studies on the g
Externí odkaz:
https://doaj.org/article/38002075b3db491fab8d7425f64f5b81
Publikováno v:
Biomedicines, Vol 10, Iss 3, p 652 (2022)
Hypouricemia is recognized as a rare disorder, defined as a serum uric acid level of 2.0 mg/dL or less. Hypouricemia is divided into an overexcretion type and an underproduction type. The former typical disease is xanthinuria, and the latter is renal
Externí odkaz:
https://doaj.org/article/4d9c3ab2b92440e9a2e2371d3884526f
Autor:
Satoshi Hirata, Kaname Kojima, Kazuharu Misawa, Olivier Gervais, Yosuke Kawai, Masao Nagasaki
Publikováno v:
Heliyon, Vol 4, Iss 5 (2018)
Forensic DNA typing is widely used to identify missing persons and plays a central role in forensic profiling. DNA typing usually uses capillary electrophoresis fragment analysis of PCR amplification products to detect the length of short tandem repe
Externí odkaz:
https://doaj.org/article/24abafdef3354ebe94443e842099a549
Autor:
Kohei Hamanaka, Daisuke Yamauchi, Eriko Koshimizu, Kei Watase, Kaoru Mogushi, Kinya Ishikawa, Hidehiro Mizusawa, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publikováno v:
Genome Research. 33:435-447
Tandem repeats (TRs) are one of the largest sources of polymorphism, and their length is associated with gene regulation. Although previous studies reported several tandem repeats regulating gene splicing incis(spl-TRs), no large-scale study has been