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Journal of Human Genetics|July 3, 2026
Age-dependent association of the METTL23 c.84+60delAT variant with normal-tension glaucomaYang Pan, Kazutoshi Yoshitake, Naoko Minematsu, et al.
Nippon Ganka Gakkai Zasshi|September 26, 2013
[Long-term observation over ten years of four cases of cone dystrophy with supernormal rod electroretinogram]Natsuko Nakamura, Kazushige Tsunoda, Kaoru Fujinami, et al.
Cell Death & Disease|October 19, 2024
Retinal pigment epithelium-specific ablation of GPx4 in adult mice recapitulates key features of geographic atrophy in age-related macular degenerationKunihiro Azuma, Takafumi Suzuki, Kenta Kobayashi, et al.
The Journal of Biological Chemistry|November 10, 2010
Processing of optineurin in neuronal cellsXiang Shen, Hongyu Ying, Ye Qiu, et al.
Plos One|February 9, 2010
VAV2 and VAV3 as candidate disease genes for spontaneous glaucoma in mice and humansKeiko Fujikawa, Takeshi Iwata, Kaoru Inoue, et al.
Protein Science : a Publication of the Protein Society|October 19, 2021
Protein Data Bank Japan: Celebrating our 20th anniversary during a global pandemic as the Asian hub of three dimensional macromolecular structural dataGert-Jan Bekker, Masashi Yokochi, Hirofumi Suzuki, et al.
Human Molecular Genetics|May 15, 2013
Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucomaYuriko Minegishi, Daisuke Iejima, Hiroaki Kobayashi, et al.
Retina (Philadelphia, Pa.)|April 3, 2012
Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 geneKazushige Tsunoda, Tomoaki Usui, Tetsuhisa Hatase, et al.
Ophthalmic Genetics|November 8, 2019
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese familyDaiki Kubota, Noriko Oishi, Kiyoko Gocho, et al.
Human Molecular Genetics|January 10, 2020
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathyHuiping Li, Shiqin Yuan, Yuriko Minegishi, et al.
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