Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.E995*
Back to variants list

CRB1

NM_201253.3:p.E995*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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

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

33528094 (PubMed )
Supplement: AOS-99-e402-s003.pdf

Research Models and Gene Augmentation Therapy for CRB1 Retinal Dystrophies.

Boon N et al.

Frontiers in Neuroscience, 2020

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

30956116 (PubMed )
Supplement: mmc1.pdf

A clinical and molecular characterisation of CRB1-associated maculopathy.

Khan KN et al.

European Journal of Human Genetics : Ejhg, 2018

29391521 (PubMed )
Supplement: NIHMS76229-supplement-supplementary_tables.pdf

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.

Tiab L et al.

Molecular Vision, 2013

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K et al.

Human Mutation, 2012

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.

Mehalow AK et al.

Human Molecular Genetics, 2003

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.

Bernal S et al.

Journal of Medical Genetics, 2003

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

den Hollander AI et al.

Nature Genetics, 1999

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."