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Items: 1 to 20 of 46

1.
Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction
Yuki Otsuka, Keiko Imamura, Akio Oishi, Kazuhide Asakawa, Takayuki Kondo, Risako Nakai, Mika Suga, Ikuyo Inoue, Yukako Sagara, Kayoko Tsukita, Kaori Teranaka, Yu Nishimura, Akira Watanabe, Kazuhiro Umeyama, Nanako Okushima, Kohnosuke Mitani, Hiroshi Nagashima, Koichi Kawakami, Keiko Muguruma, Akitaka Tsujikawa, Haruhisa Inoue
JCI Insight. 2024 Apr 22; 9(8): e174179. Published online 2024 Apr 22. doi: 10.1172/jci.insight.174179
PMCID:
PMC11141876
AbstractArticlePDF–8.9M
2.
Histopathological Comparison of Eyes from Patients with Autosomal Recessive Retinitis Pigmentosa caused by novel EYS Mutations
Vera L. Bonilha, Mary E. Rayborn, Brent A. Bell, Meghan J. Marino, Gayle J. Pauer, Craig D. Beight, John Chiang, Elias I. Traboulsi, Joe G. Hollyfield, Stephanie A. Hagstrom
Graefes Arch Clin Exp Ophthalmol. Author manuscript; available in PMC 2024 Feb 6.
Published in final edited form as: Graefes Arch Clin Exp Ophthalmol. 2015 Feb; 253(2): 295–305. Published online 2014 Dec 11. doi: 10.1007/s00417-014-2868-z
PMCID:
PMC10846590
AbstractArticlePDF–1.2M
3.
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study
Ragkit Suvannaboon, Aulia Rahmi Pawestri, Worapoj Jinda, Aekkachai Tuekprakhon, Adisak Trinavarat, La-ongsri Atchaneeyasakul
Sci Rep. 2022; 12: 21494. Published online 2022 Dec 13. doi: 10.1038/s41598-022-26017-0
PMCID:
PMC9748023
AbstractArticlePDF–2.3M
4.
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
Yusuke Sano, Yoshito Koyanagi, Jing Hao Wong, Yusuke Murakami, Kohta Fujiwara, Mikiko Endo, Tomomi Aoi, Kazuki Hashimoto, Toru Nakazawa, Yuko Wada, Shinji Ueno, Dan Gao, Akira Murakami, Yoshihiro Hotta, Yasuhiro Ikeda, Koji M Nishiguchi, Yukihide Momozawa, Koh-Hei Sonoda, Masato Akiyama, Akihiro Fujimoto
J Med Genet. 2022 Nov; 59(11): 1133–1138. Published online 2022 Jun 15. doi: 10.1136/jmedgenet-2022-108428
PMCID:
PMC9613870
AbstractArticlePDF–728K
5.
Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort
Feng-Juan Gao, Dan-Dan Wang, Fang-Yuan Hu, Ping Xu, Qing Chang, Jian-Kang Li, Wei Liu, Sheng-Hai Zhang, Ge-Zhi Xu, Ji-Hong Wu
Eye (Lond) 2022 Nov; 36(11): 2122–2129. Published online 2021 Oct 23. doi: 10.1038/s41433-021-01794-6
PMCID:
PMC9581949
AbstractArticlePDF–1.7M
6.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
7.
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa is Associated with Variants Near the C-Terminus
Jesse D Sengillo, Winston Lee, Takayuki Nagasaki, Kaspar Schuerch, Lawrence A Yannuzzi, K Bailey Freund, Janet Sparrow, Rando Allikmets, Stephen H Tsang
Am J Ophthalmol. Author manuscript; available in PMC 2021 Sep 20.
Published in final edited form as: Am J Ophthalmol. 2018 Jun; 190: 99–112. Published online 2018 Mar 14. doi: 10.1016/j.ajo.2018.03.008
PMCID:
PMC8451245
AbstractArticlePDF–1.8M
8.
“Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS”
Olivia Cundy, Suzanne Broadgate, Stephanie Halford, Robert E. MacLaren, Morag E. Shanks, Penny Clouston, Michael J. Gilhooley, Susan M. Downes
Eye (Lond) 2021 May; 35(5): 1440–1449. Published online 2020 Jul 29. doi: 10.1038/s41433-020-1105-8
PMCID:
PMC8182807
AbstractArticlePDF–2.1M
9.
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden
Ida Maria Westin, Frida Jonsson, Lennart Österman, Monica Holmberg, Marie Burstedt, Irina Golovleva
Sci Rep. 2021; 11: 7696. Published online 2021 Apr 8. doi: 10.1038/s41598-021-87224-9
PMCID:
PMC8032658
AbstractArticlePDF–2.3M
10.
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
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
Commun Biol. 2021; 4: 140. Published online 2021 Jan 29. doi: 10.1038/s42003-021-01662-9
PMCID:
PMC7846782
AbstractArticlePDF–3.0M
11.
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening
Shogo Numa, Akio Oishi, Koichiro Higasa, Maho Oishi, Manabu Miyata, Tomoko Hasegawa, Hanako Ohashi Ikeda, Yuki Otsuka, Fumihiko Matsuda, Akitaka Tsujikawa
Sci Rep. 2020; 10: 20770. Published online 2020 Nov 27. doi: 10.1038/s41598-020-77558-1
PMCID:
PMC7695703
AbstractArticlePDF–2.0M
12.
Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
Chunli Wei, Ting Xiao, Jingliang Cheng, Jiewen Fu, Qi Zhou, Lisha Yang, Hongbin Lv, Junjiang Fu
Biosci Rep. 2020 Jun 26; 40(6): BSR20193443. Published online 2020 Jun 2. doi: 10.1042/BSR20193443
PMCID:
PMC7268256
AbstractArticlePDF–1.1M
13.
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency
Lizhu Yang, Kaoru Fujinami, Shinji Ueno, Kazuki Kuniyoshi, Takaaki Hayashi, Mineo Kondo, Atsushi Mizota, Nobuhisa Naoi, Kei Shinoda, Shuhei Kameya, Yu Fujinami-Yokokawa, Xiao Liu, Gavin Arno, Nikolas Pontikos, Taro Kominami, Hiroko Terasaki, Hiroyuki Sakuramoto, Satoshi Katagiri, Kei Mizobuchi, Natsuko Nakamura, Go Mawatari, Toshihide Kurihara, Kazuo Tsubota, Yozo Miyake, Kazutoshi Yoshitake, Takeshi Iwata, Kazushige Tsunoda, JEGC study group
Sci Rep. 2020; 10: 5497. Published online 2020 Mar 26. doi: 10.1038/s41598-020-62119-3
PMCID:
PMC7099090
AbstractArticlePDF–1.5M
14.
Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations
Yan Sun, Jian‐kang Li, Wei He, Zhuo‐shi Wang, Jin‐yue Bai, Ling Xu, Bo Xing, Jian‐guo Zhang, Lusheng Wang, Wei Li, Fang Chen
Mol Genet Genomic Med. 2020 Mar; 8(3): e1117. Published online 2020 Jan 15. doi: 10.1002/mgg3.1117
PMCID:
PMC7057104
AbstractArticlePDF–1014K
15.
Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa
Masaki Iwanami, Akio Oishi, Ken Ogino, Yuko Seko, Tomomi Nishida-Shimizu, Nagahisa Yoshimura, Seishi Kato
Mol Vis. 2019; 25: 766–779. Published online 2019 Nov 15.
PMCID:
PMC6857781
AbstractArticlePDF–1.3M
16.
Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population
Demin Ji, Wenhua Xing, Feng Li, Zhi Huang, Wenkai Zheng, Baoyang Hu, FangLin Niu, Yong Zhu, Xuejun Yang
Mol Genet Genomic Med. 2019 Sep; 7(9): e890. Published online 2019 Jul 30. doi: 10.1002/mgg3.890
PMCID:
PMC6732306
AbstractArticlePDF–441K
17.
Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa
Xiaoqiang Xiao, Yingjie Cao, Shaowan Chen, Min Chen, Xiaoting Mai, Yuqian Zheng, Xi Zhuang, Tsz Kin Ng, Haoyu Chen
Mol Vis. 2019; 25: 35–46. Published online 2019 Jan 20.
PMCID:
PMC6363637
AbstractArticlePDF–1.7M
18.
The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation
Yuko Seko, Masaki Iwanami, Kiyoko Miyamoto-Matsui, Shimpei Takita, Noriyuki Aoi, Akihiro Umezawa, Seishi Kato
Stem Cell Res Ther. 2018; 9: 279. Published online 2018 Oct 25. doi: 10.1186/s13287-018-1016-9
PMCID:
PMC6202841
AbstractArticlePDF–1.2M
19.
A Global Analysis of The Receptor Tyrosine Kinase – Protein Phosphatase Interactome
Zhong Yao, Katelyn Darowski, Nicole St-Denis, Victoria Wong, Fabian Offensperger, Annabel Villedieu, Shahreen Amin, Ramy Malty, Hiroyuki Aoki, Hongbo Guo, Yang Xu, Caterina Iorio, Max Kotlyar, Andrew Emili, Igor Jurisica, Benjamin G Neel, Mohan Babu, Anne-Claude Gingras, Igor Stagljar
Mol Cell. Author manuscript; available in PMC 2017 Oct 31.
Published in final edited form as: Mol Cell. 2017 Jan 19; 65(2): 347–360. Published online 2017 Jan 5. doi: 10.1016/j.molcel.2016.12.004
PMCID:
PMC5663465
AbstractArticlePDF–2.1M
20.
EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones
Giovanna Alfano, Przemyslaw M. Kruczek, Amna Z. Shah, Barbara Kramarz, Glen Jeffery, Andrew C. Zelhof, Shomi S. Bhattacharya
PLoS One. 2016; 11(11): e0166397. Published online 2016 Nov 15. doi: 10.1371/journal.pone.0166397
PMCID:
PMC5112921
AbstractArticlePDF–2.8M

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