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Your search keyword '"Masashi, Ogasawara"' showing total 3 results
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3 results on '"Masashi, Ogasawara"'

1. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Author

Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, and J. Paul Taylor

Subjects
Science
Abstract

Missense variants in RNA-binding proteins underlie many diseases. Here the authors report an oculopharyngeal muscular dystrophy caused by heterozygous frameshift mutations in HNRNPA2B1 that alter its nucleocytoplasmic transport dynamics and result in cytoplasmic accumulation of hnRNPA2 protein.

Published
2022
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2. Changes in complement activation products after anti-VEGF injection for choroidal neovascularization in age-related macular degeneration and pachychoroid disease

Author

Keiichiro Tanaka, Yasuharu Oguchi, Tomoko Omori, Yumi Ishida, Hiroaki Shintake, Ryutaro Tomita, Akihito Kasai, Masashi Ogasawara, Yukinori Sugano, Kanako Itagaki, Akira Ojima, Takeshi Machida, Hideharu Sekine, and Tetsuju Sekiryu

Subjects
Medicine, Science
Abstract

Abstract We evaluated changes in the complement system resulting from anti-vascular endothelial growth factor (VEGF) in eyes with age-related choroidal neovascularization (CNV) including neovascular age-related macular degeneration, pachychoroid neovasculopathy, and polypoidal choroidal neovasculopathy. We measured the concentrations of the complement activation products (C3a, C4a), VEGF, and monocyte chemotactic protein-1 in the aqueous humor during intravitreal anti-VEGF injections for CNV. The VEGF level decreased significantly (P

Published
2021
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3. A prospective multicenter study on genome wide associations to ranibizumab treatment outcome for age-related macular degeneration

Author

Kenji Yamashiro, Keisuke Mori, Shigeru Honda, Mariko Kano, Yasuo Yanagi, Akira Obana, Yoichi Sakurada, Taku Sato, Yoshimi Nagai, Taiichi Hikichi, Yasushi Kataoka, Chikako Hara, Yasurou Koyama, Hideki Koizumi, Munemitsu Yoshikawa, Masahiro Miyake, Isao Nakata, Takashi Tsuchihashi, Kuniko Horie-Inoue, Wataru Matsumiya, Masashi Ogasawara, Ryo Obata, Seigo Yoneyama, Hidetaka Matsumoto, Masayuki Ohnaka, Hirokuni Kitamei, Kaori Sayanagi, Sotaro Ooto, Hiroshi Tamura, Akio Oishi, Sho Kabasawa, Kazuhiro Ueyama, Akiko Miki, Naoshi Kondo, Hiroaki Bessho, Masaaki Saito, Hidenori Takahashi, Xue Tan, Keiko Azuma, Wataru Kikushima, Ryo Mukai, Akihiro Ohira, Fumi Gomi, Kazunori Miyata, Kanji Takahashi, Shoji Kishi, Hiroyuki Iijima, Tetsuju Sekiryu, Tomohiro Iida, Takuya Awata, Satoshi Inoue, Ryo Yamada, Fumihiko Matsuda, Akitaka Tsujikawa, Akira Negi, Shin Yoneya, Takeshi Iwata, and Nagahisa Yoshimura

Subjects
Medicine, Science
Abstract

Abstract We conducted a genome-wide association study (GWAS) on the outcome of anti-VEGF treatment for exudative age-related macular degeneration (AMD) in a prospective cohort. Four hundred and sixty-one treatment-naïve AMD patients were recruited at 13 clinical centers and all patients were treated with 3 monthly injections of ranibizumab followed by pro re nata regimen treatment for one year. Genomic DNA was collected from all patients for a 2-stage GWAS on achieving dry macula after the initial treatment, the requirement for an additional treatment, and visual acuity changes during the 12-month observation period. In addition, we evaluated 9 single-nucleotide polymorphisms (SNPs) in 8 previously reported AMD-related genes for their associations with treatment outcome. The discovery stage with 256 patients evaluated 8,480,849 SNPs, but no SNPs showed genome-wide level significance in association with treatment outcomes. Although SNPs with P-values of

Published
2017
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