Associated Papers
Mutations in unfolded protein response regulator ATF6 cause hearing and vision loss syndrome.
Lee EJ et al.
The Journal of Clinical Investigation, 2025
Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ et al.
Stem Cell Reviews and Reports, 2025
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.
Wu S et al.
Ophthalmic Genetics, 2024
Retinal Organoids: A Human Model System for Development, Diseases, and Therapies.
Kandoi S et al.
Advances in Experimental Medicine and Biology, 2023
ATF6 is essential for human cone photoreceptor development.
Kroeger H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Multiexon deletion alleles of ATF6 linked to achromatopsia.
Lee EJ et al.
Jci Insight, 2020
Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
Mastey RR et al.
Investigative Ophthalmology & Visual Science, 2019
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.
Skorczyk-Werner A et al.
European Journal of Human Genetics : Ejhg, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S et al.
Nature Genetics, 2015
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