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Sichuan Provincial Key Laboratory for Human Disease Gene Study,
Sichuan Provincial People's Hospital,
Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital
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Mistrafficking of prenylated proteins causes retinitis pigmentosa 2.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology Mar, 2015 | Pubmed ID: 25422369
Retinitis Pigmentosa: Disease Mechanisms, Diagnosis, and Therapies.
Journal of ophthalmology , 2015 | Pubmed ID: 26171242
Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
Scientific reports Jan, 2016 | Pubmed ID: 26787102
Arf-like Protein 3 (ARL3) Regulates Protein Trafficking and Ciliogenesis in Mouse Photoreceptors.
The Journal of biological chemistry Mar, 2016 | Pubmed ID: 26814127
Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy.
Scientific reports Feb, 2016 | Pubmed ID: 26861912
A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.
Nature genetics Jun, 2016 | Pubmed ID: 27089177
A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia.
Ophthalmic genetics Aug, 2018 | Pubmed ID: 29902091
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.
Genetics in medicine : official journal of the American College of Medical Genetics 10, 2019 | Pubmed ID: 31000793
Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
Molecular medicine reports Sep, 2019 | Pubmed ID: 31322236
Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.
Molecular medicine reports Sep, 2020 | Pubmed ID: 32705276
An improved method for preparation of mouse retinal cryosections.
European journal of histochemistry : EJH Sep, 2020 | Pubmed ID: 32880132
A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review.
Molecular genetics & genomic medicine Jul, 2021 | Pubmed ID: 33949806
Inhibition of mTOR signaling by rapamycin protects photoreceptors from degeneration in mice.
Zoological research Jul, 2021 | Pubmed ID: 34235896
A quick protocol for the preparation of mouse retinal cryosections for immunohistochemistry.
Open biology Jul, 2021 | Pubmed ID: 34315273
Exogenous PDE5 Expression Rescues Photoreceptors in Mice.
Current medicinal chemistry , 2022 | Pubmed ID: 35170405
Identification of a novel compound heterozygous variant in a patient with autosomal recessive retinitis pigmentosa.
Biomedical reports May, 2022 | Pubmed ID: 35386112
Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic mutations.
Zoological research May, 2022 | Pubmed ID: 35503560
Cholesterol homeostasis regulated by ABCA1 is critical for retinal ganglion cell survival.
Science China. Life sciences Feb, 2023 | Pubmed ID: 35829808
Automatic counting of retinal ganglion cells in the entire mouse retina based on improved YOLOv5.
Zoological research Sep, 2022 | Pubmed ID: 35927396
Improved methods for isolating the mouse retinal vasculature.
Clinical & experimental ophthalmology Dec, 2022 | Pubmed ID: 35974451
Deep Sc-RNA sequencing decoding the molecular dynamic architecture of the human retina.
Science China. Life sciences Mar, 2023 | Pubmed ID: 36115892
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Frontiers in neuroscience , 2023 | Pubmed ID: 37077319
Leukemia Inhibitory Factor Protects against Degeneration of Cone Photoreceptors Caused by RPE65 Deficiency.
Current medicinal chemistry , 2024 | Pubmed ID: 37921176
Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.
European journal of human genetics : EJHG Apr, 2024 | Pubmed ID: 38052906
A new mouse-fixation device for IOP measurement in awake mice.
Vision research Jun, 2024 | Pubmed ID: 38579406
Erratum to: Cholesterol homeostasis regulated by ABCA1 is critical for retinal ganglion cell survival.
Science China. Life sciences Jul, 2024 | Pubmed ID: 38700661
University of Electronic Science and Technology of China
Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital
Jialiang Yang*,1,
Jiaxin Guo*,1,
Jing Hu*,1,2,
Xiawei Wu*,1,
Haotian Huang1,
Yu Wen1,
Runfang Chen1,
Congrui Liu1,
Houbin Zhang1,3
1Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China,
2School of Medicine, University of Electronic Science and Technology of China,
3Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital
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