Zobrazeno 1 - 10
of 126
pro vyhledávání: '"Fuyuki Miya"'
Autor:
Daisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, Hisato Suzuki, Mitsuhiro Kato, Shinji Saitoh, Yonehiro Kanemura, Toshiki Takenouchi, Mamiko Yamada, Daisuke Nakato, Masayuki Sato, Tatsuhiko Tsunoda, Kenjiro Kosaki, Fuyuki Miya
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC8 or ERCC6. Most pathogenic variants in ERCC8 are single nucleotide substitutions. Structural variants (SVs) have been reported in patients with ERCC8-r
Externí odkaz:
https://doaj.org/article/7b39d56800b6443c911a4141bad876ea
Autor:
Koji Saito, MD, Minoru Fujimoto, MD, PhD, Eiji Funajima, MSc, Satoshi Serada, PhD, Tomoharu Ohkawara, MD, Masayuki Ishihara, MD, PhD, Mamiko Yamada, MD, PhD, Hisato Suzuki, MD, PhD, Fuyuki Miya, PhD, Kenjiro Kosaki, MD, PhD, Mikiya Fujieda, MD, PhD, Tetsuji Naka, MD, PhD
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 4, Pp 100312- (2024)
Background: In recent years, germline gain-of-function (GOF) mutations in signal transducer and activator of transcription 3 (STAT3) have been identified as a cause of early-onset multiorgan autoimmune diseases with the widespread use of next-generat
Externí odkaz:
https://doaj.org/article/2833f02a68d14eeb94d66e5de4e7ed64
Autor:
Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, Ryo Kurosawa, Toshiki Takenouchi, Tomonari Awaya, Masahiko Ajiro, Atsuko Takeuchi, Hisahide Nishio, Masatoshi Hagiwara, Fuyuki Miya, Masafumi Matsuo, Kenjiro Kosaki
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Pathogenic variants in WDR45 on chromosome Xp11 cause neurodegenerative disorder beta-propeller protein-associated neurodegeneration (BPAN). Currently, there is no effective therapy for BPAN. Here we report a 17-year-old female patient with
Externí odkaz:
https://doaj.org/article/cbd243c811c94a3bae270d869c03c41a
Autor:
Yumiko Tanaka, Mai Yamagishi, Yasutaka Motomura, Takashi Kamatani, Yusuke Oguchi, Nobutake Suzuki, Tsuyoshi Kiniwa, Hiroki Kabata, Misato Irie, Tatsuhiko Tsunoda, Fuyuki Miya, Keisuke Goda, Osamu Ohara, Takashi Funatsu, Koichi Fukunaga, Kazuyo Moro, Sotaro Uemura, Yoshitaka Shirasaki
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-11 (2023)
Abstract The decision of whether cells are activated or not is controlled through dynamic intracellular molecular networks. However, the low population of cells during the transition state of activation renders the analysis of the transcriptome of th
Externí odkaz:
https://doaj.org/article/b459375fcb0445819704a657f99bc075
Autor:
Muhammad Irfanur Rashid, Takuji Ito, Fuyuki Miya, Daisuke Shimojo, Kanae Arimoto, Kazunari Onodera, Rina Okada, Takunori Nagashima, Kazuki Yamamoto, Zohora Khatun, Rayhanul Islam Shimul, Jun-ichi Niwa, Masahisa Katsuno, Gen Sobue, Hideyuki Okano, Hidetoshi Sakurai, Kazunori Shimizu, Manabu Doyu, Yohei Okada
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-22 (2023)
Abstract Pathophysiological analysis and drug discovery targeting human diseases require disease models that suitably recapitulate patient pathology. Disease-specific human induced pluripotent stem cells (hiPSCs) differentiated into affected cell typ
Externí odkaz:
https://doaj.org/article/b86903a1ae624984930cf68c5276e193
Autor:
Kensuke Yamaguchi, Kazuyoshi Ishigaki, Akari Suzuki, Yumi Tsuchida, Haruka Tsuchiya, Shuji Sumitomo, Yasuo Nagafuchi, Fuyuki Miya, Tatsuhiko Tsunoda, Hirofumi Shoda, Keishi Fujio, Kazuhiko Yamamoto, Yuta Kochi
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Splicing QTL (sQTL), genetic variants regulating alternative splicing, can be biologically important, but complex to detect and interpret. Here, the authors identify sQTL by focusing on protein coding sequences, as an alternative to junction-based ap
Externí odkaz:
https://doaj.org/article/caffc154d21b4e51bfcdf1a24b7faf32
Autor:
Mamiko Yamada, Hisato Suzuki, Hiroyuki Adachi, Atsuko Noguchi, Fuyuki Miya, Tsutomu Takahashi, Kenjiro Kosaki
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Pontocerebellar hypoplasia (PCH) is increasingly known as a degenerative disease rather than simple “hypoplasia”. At least 21 disease-causing genes have been identified for PCH so far. Because PCH is very heterogenous, prognos
Externí odkaz:
https://doaj.org/article/a6d3c63131764038b8cb57b97f68e2e9
Autor:
Kimiharu Takamatsu, Nobuyuki Tanaka, Kyohei Hakozaki, Ryohei Takahashi, Yu Teranishi, Tetsushi Murakami, Ryohei Kufukihara, Naoya Niwa, Shuji Mikami, Toshiaki Shinojima, Takashi Sasaki, Yusuke Sato, Haruki Kume, Seishi Ogawa, Kazuhiro Kakimi, Takashi Kamatani, Fuyuki Miya, Tatsuhiko Tsunoda, Eriko Aimono, Hiroshi Nishihara, Kazuaki Sawada, Takeshi Imamura, Ryuichi Mizuno, Mototsugu Oya
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Targeting the inhibitory receptors (IRs) LAG-3, TIM-3 and TIGIT is a promising immune-oncology approach and the identification of biomarkers of response is crucial. Here, the authors apply automated single-cell count for these IRs in human renal cell
Externí odkaz:
https://doaj.org/article/f5c1a143c82843d6b1ca5c1840ac57f5
Autor:
Koji M. Nishiguchi, Fuyuki Miya, Yuka Mori, Kosuke Fujita, Masato Akiyama, Takashi Kamatani, Yoshito Koyanagi, Kota Sato, Toru Takigawa, Shinji Ueno, Misato Tsugita, Hiroshi Kunikata, Katarina Cisarova, Jo Nishino, Akira Murakami, Toshiaki Abe, Yukihide Momozawa, Hiroko Terasaki, Yuko Wada, Koh-Hei Sonoda, Carlo Rivolta, Tatsuhiko Tsunoda, Motokazu Tsujikawa, Yasuhiro Ikeda, Toru Nakazawa
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-12 (2021)
Koji Nishiguchi et al. identify three genetic variants within the EYS gene that are associated with retinitis pigmentosa using a genome-wide association study. They demonstrate that one of these variants (G843E) causes retinal dysfunction in zebrafis
Externí odkaz:
https://doaj.org/article/9d3f7ffc3efc4b0488dd8995a4248a06
Autor:
Jun Hosoe, Ken Suzuki, Fuyuki Miya, Takashi Kato, Tatsuhiko Tsunoda, Yukinori Okada, Momoko Horikoshi, Nobuhiro Shojima, Toshimasa Yamauchi, Takashi Kadowaki
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract Recently, we conducted genome-wide association studies of type 2 diabetes (T2D) in a Japanese population, which identified 20 novel T2D loci that were not associated with T2D in Europeans. Moreover, nine novel missense risk variants, such as
Externí odkaz:
https://doaj.org/article/b3df7974687f44e5bc778e985f45273f