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
A deafness-blindness syndrome results from ATF6-based disruption of the unfolded protein response.
Joshi Y et al.
The Journal of Clinical Investigation, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia.
Grissim G et al.
Investigative Ophthalmology & Visual Science, 2024
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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
Oh JK et al.
American Journal of Ophthalmology, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
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
Pathomechanisms of ATF6-Associated Cone Photoreceptor Diseases.
Chiang WJ et al.
Advances in Experimental Medicine and Biology, 2019
The unfolded protein response regulator ATF6 promotes mesodermal differentiation.
Kroeger H et al.
Science Signaling, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S et al.
Nature Genetics, 2015