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Molecular Vision|May 19, 2012
A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinogramsTakenori Kabuto, Hisatomo Takahashi, Yoko Goto-Fukuura, et al.
Ophthalmic Genetics|December 9, 2017
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variantsAzusa Kominami, Shinji Ueno, Taro Kominami, et al.
Journal of Ophthalmology|May 17, 2019
Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning TechniquesYu Fujinami-Yokokawa, Nikolas Pontikos, Lizhu Yang, et al.
The British Journal of Ophthalmology|April 21, 2021
Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniquesYu Fujinami-Yokokawa, Hideki Ninomiya, Xiao Liu, et al.
Heliyon|June 7, 2018
KUS121, an ATP regulator, mitigates chorioretinal pathologies in animal models of age-related macular degenerationYuki Muraoka, Yuto Iida, Hanako O Ikeda, et al.
Scientific Reports|September 23, 2016
Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degenerationMyoung Sup Shim, Yuji Takihara, Keun-Young Kim, et al.
Molecular Vision|April 18, 2007
HTRA1 promoter polymorphism predisposes Japanese to age-related macular degenerationTsunehiko Yoshida, Andrew DeWan, Hong Zhang, et al.
Journal of Biomedical Semantics|December 9, 2016
Publication of nuclear magnetic resonance experimental data with semantic web technology and the application thereof to biomedical research of proteinsMasashi Yokochi, Naohiro Kobayashi, Eldon L Ulrich, et al.
Frontiers in Molecular Neuroscience|December 7, 2020
The Serine Protease HTRA-1 Is a Biomarker for ROP and Mediates Retinal NeovascularizationLeah A Owen, Kinsey Shirer, Samuel A Collazo, et al.
Genetics in Medicine Open|December 13, 2024
A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRDAkiko Suga, Kei Mizobuchi, Taiga Inooka, et al.
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