Associated Papers
Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.
Rodriguez-Martinez AC et al.
Ophthalmology Science, 2026
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.
Moekotte L et al.
Investigative Ophthalmology & Visual Science, 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
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
García-Bohórquez B et al.
Molecular Therapy. Nucleic Acids, 2024
Inherited Retinal Diseases and Retinal Organoids as Preclinical Cell Models for Inherited Retinal Disease Research.
Ashworth KE et al.
Genes, 2024
Diverse functions and pathogenetic role of Crumbs in retinopathy.
Zhou X et al.
Cell Communication and Signaling : Ccs, 2024
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
Buck TM et al.
Stem Cell Reports, 2023
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC et al.
International Journal of Molecular Sciences, 2023
AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype.
Boon N et al.
Stem Cell Reports, 2023
Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina.
Owen N et al.
The Journal of Pathology, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
Talib M et al.
Acta Ophthalmologica, 2021
Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.
Roshandel D et al.
Translational Vision Science & Technology, 2021
Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants.
Zhang X et al.
Molecular Genetics & Genomic Medicine, 2020
Research Models and Gene Augmentation Therapy for CRB1 Retinal Dystrophies.
Boon N et al.
Frontiers in Neuroscience, 2020
Deciphering retinal diseases through the generation of three dimensional stem cell-derived organoids: Concise Review.
Artero Castro A et al.
Stem Cells (dayton, Ohio), 2019
Retinogenesis of the Human Fetal Retina: An Apical Polarity Perspective.
Quinn PMJ et al.
Genes, 2019
Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5.
Quinn PM et al.
Stem Cell Reports, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation.
Zhang X et al.
Stem Cell Research, 2018
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Talib M et al.
Ophthalmology, 2017
Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis.
Hettinga YM et al.
Ophthalmology, 2016
Inherited retinal disease-associated uveitis.
Hung JH et al.
Survey of Ophthalmology, 0