Zobrazeno 1 - 10
of 269
pro vyhledávání: '"Yosuke Kawai"'
Autor:
Yosuke Kawai, Kei Nishiyama
Publikováno v:
Journal of General and Family Medicine, Vol 25, Iss 5, Pp 274-276 (2024)
Abstract Lemierre's syndrome is a fatal condition characterized by septic thrombophlebitis of the internal jugular vein (IJV). Early diagnosis of Lemierre's syndrome in primary care remains challenging because of its rarity and common initial symptom
Externí odkaz:
https://doaj.org/article/30cce3c54da24963b8e5a183dac68419
Autor:
Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, NCBN Controls WGS Consortium, Yoshihisa Yamano
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and
Externí odkaz:
https://doaj.org/article/e35b5985044841eb9779c1f6ef125582
Autor:
Kei Kaburagi, Yuta Hagiwara, Keiji Tachikawa, Noriko Miyake, Hisanao Akiyama, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Yoshihisa Yamano, Takahiro Shimizu, Satomi Mitsuhashi
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Background Ischemic stroke in young adults can be caused by a variety of etiologies including the monogenic disorders. Visceral heterotaxy is a condition caused by abnormal left–right determinations during embryonic development. We aimed t
Externí odkaz:
https://doaj.org/article/5fa0f131a69945acbea4dc6d6e3ceda6
Autor:
Wataru Nakamura, Makoto Hirata, Satoyo Oda, Kenichi Chiba, Ai Okada, Raúl Nicolás Mateos, Masahiro Sugawa, Naoko Iida, Mineko Ushiama, Noriko Tanabe, Hiromi Sakamoto, Shigeki Sekine, Akira Hirasawa, Yosuke Kawai, Katsushi Tokunaga, NCBN Controls WGS Consortium, Shin-ichi Tsujimoto, Norio Shiba, Shuichi Ito, Teruhiko Yoshida, Yuichi Shiraishi
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-13 (2024)
Abstract Innovations in sequencing technology have led to the discovery of novel mutations that cause inherited diseases. However, many patients with suspected genetic diseases remain undiagnosed. Long-read sequencing technologies are expected to sig
Externí odkaz:
https://doaj.org/article/7f7b990a881248838189c1889a7e569e
Autor:
Kouyuki Hirayasu, Seik-Soon Khor, Yosuke Kawai, Mihoko Shimada, Yosuke Omae, Gen Hasegawa, Yuko Hashikawa, Hiromu Tanimoto, Jun Ohashi, Kazuyoshi Hosomichi, Atsushi Tajima, Hiroyuki Nakamura, Minoru Nakamura, Katsushi Tokunaga, Rikinari Hanayama, Masao Nagasaki
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Leukocyte immunoglobulin (Ig)-like receptors (LILRs) on human chromosome 19q13.4 encode 11 immunoglobulin superfamily receptors, exhibiting genetic diversity within and between human populations. Among the LILR genes, the genomic region surrounding L
Externí odkaz:
https://doaj.org/article/1df24c530cd145c0b338532826863cde
Autor:
Akiko Suga, Kei Mizobuchi, Taiga Inooka, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kazuki Kuniyoshi, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Takaaki Hayashi, Shinji Ueno, Takeshi Iwata, Hatsue Ishibashi-Ueda, Tsutomu Tomita, Michio Noguchi, Ayako Takahashi, Yu-ichi Goto, Sumiko Yoshida, Kotaro Hattori, Ryo Matsumura, Aritoshi Iida, Yutaka Maruoka, Hiroyuki Gatanaga, Masaya Sugiyama, Satoshi Suzuki, Kengo Miyo, Yoichi Matsubara, Akihiro Umezawa, Kenichiro Hata, Tadashi Kaname, Kouichi Ozaki, Haruhiko Tokuda, Hiroshi Watanabe, Shumpei Niida, Eisei Noiri, Koji Kitajima, Reiko Miyahara, Hideyuki Shimanuki
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101843- (2024)
Purpose: Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) and by ATF6, a transcription factor with ubiquitous expression. To improve the relatively low vari
Externí odkaz:
https://doaj.org/article/a0a40200ace245f49c062e5cf42c6c3b
Autor:
Yosuke Kawai, Yusuke Watanabe, Yosuke Omae, Reiko Miyahara, Seik-Soon Khor, Eisei Noiri, Koji Kitajima, Hideyuki Shimanuki, Hiroyuki Gatanaga, Kenichiro Hata, Kotaro Hattori, Aritoshi Iida, Hatsue Ishibashi-Ueda, Tadashi Kaname, Tatsuya Kanto, Ryo Matsumura, Kengo Miyo, Michio Noguchi, Kouichi Ozaki, Masaya Sugiyama, Ayako Takahashi, Haruhiko Tokuda, Tsutomu Tomita, Akihiro Umezawa, Hiroshi Watanabe, Sumiko Yoshida, Yu-Ichi Goto, Yutaka Maruoka, Yoichi Matsubara, Shumpei Niida, Masashi Mizokami, Katsushi Tokunaga
Publikováno v:
PLoS Genetics, Vol 19, Iss 12, p e1010625 (2023)
The Japanese archipelago is a terminal location for human migration, and the contemporary Japanese people represent a unique population whose genomic diversity has been shaped by multiple migrations from Eurasia. We analyzed the genomic characteristi
Externí odkaz:
https://doaj.org/article/687445c603e447609e3532d4d0fb3522
Autor:
Alexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F. Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y. Lim, Rik Westland, Francesca Zanoni, Maddalena Marasa, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L. Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A. E. van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R. Pollak, Ali Gharavi, Fangmin Lin, Ana Cristina Simœs e Silva, Ruth J. F. Loos, Eimear E. Kenny, Michiel F. Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew G. Sampson
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk
Externí odkaz:
https://doaj.org/article/1df6c689ebb545a68dd4d7a57a5fefc6
Autor:
Tsuyoshi Hachiya, Manabu Ishii, Yosuke Kawai, Seik-Soon Khor, Minae Kawashima, Licht Toyo-Oka, Nobutaka Mitsuhashi, Asami Fukuda, Yuichi Kodama, Takatomo Fujisawa, Katsushi Tokunaga, Toshihisa Takagi
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)
Abstract Accurate genotype imputation requires large-scale reference panel datasets. When conducting genotype imputation on the Japanese population, researchers can use such datasets under collaborative studies or controlled access conditions in publ
Externí odkaz:
https://doaj.org/article/c177f320f20348a09f39f5165e6e345f
Autor:
Yuki Hitomi, Yoshihiro Aiba, Kazuko Ueno, Nao Nishida, Yosuke Kawai, Minae Kawashima, Makoto Tsuiji, Chisato Iwabuchi, Sanami Takada, Noriko Miyake, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura
Publikováno v:
Human Genomics, Vol 16, Iss 1, Pp 1-12 (2022)
Abstract Background Ligation of CD28 with ligands such as CD80 or CD86 provides a critical second signal alongside antigen presentation by class II major histocompatibility complex expressed on antigen-presenting cells through the T cell antigen rece
Externí odkaz:
https://doaj.org/article/42bb9750cc5441d69b03584f5773a006