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Akademický článek

Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1

Autor: Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, Ryuji Muta, Taichi Yano, Hiroshi Sakaida, Sawako Masuda, Koki Ueda, Guofei Feng, Shimpei Gotoh, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Mizuho Nagao, Masaki Tanabe, Kazuhiko Takeuchi

Publikováno v: Case Reports in Genetics, Vol 2024 (2024)

Primary ciliary dyskinesia (PCD) is a hereditary disease caused by genes related to motile cilia. We report two male pediatric cases of PCD caused by hemizygous pathogenic variants in the OFD1 centriole and centriolar satellite protein (OFD1) gene. T

Externí odkaz: https://doaj.org/article/3b6aec926727480589126864b134efcb

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Simulation of Space Charge Dynamics in Low-Density Polyethylene Using the Gaussian Disorder Model

Autor: Ryotaro Ozaki, Kazuya Takeda, Taichi Yano, Shinji Yudate, Kazunori Kadowaki

Publikováno v: IEEE Transactions on Dielectrics and Electrical Insulation. 29:891-897

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ae837c545aa0cd309f283cbc3a753323
https://doi.org/10.1109/tdei.2022.3168375

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Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis

Autor: Yifei Xu, Guofei Feng, Taichi Yano, Sawako Masuda, Mizuho Nagao, Shimpei Gotoh, Makoto Ikejiri, Masaki Tanabe, Kazuhiko Takeuchi

Publikováno v: Journal of Human Genetics.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c3939ed70b22aaf15c6a9eca50f59d26
https://doi.org/10.1038/s10038-023-01142-4

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Solvent Effect on Chiral Aggregate Formation of Acylamino Acids

Autor: Makio Iwahashi, Taichi Yano, Toyohiro Wakabayashi, Kazutami Sakamoto, Hideyo Matsuzawa, Masahiro Ino, Hideyuki Minami

Publikováno v: Journal of Oleo Science. 51:705-713

We studied formation of chiral aggregates of optical active N-lauroyl-L-valine (L-LVA), N-lauroyl-L-glutamic acid (L-LGA) and methylester of L-LVA (L-LVMe) in various solvents such as acetonitrile, 1,4-dioxane, tetrahydrofuran and 1,2-dichloroethane

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::17b46a078d035ee69ae8b1d2ef8aa245
https://doi.org/10.5650/jos.51.705

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