[HTML][HTML] Diverse functions and pathogenetic role of Crumbs in retinopathy
X Zhou, L Zhao, C Wang, W Sun, B Jia, D Li… - Cell Communication and …, 2024 - Springer
The Crumbs protein (CRB) family plays a crucial role in maintaining the apical–basal
polarity and integrity of embryonic epithelia. The family comprises different isoforms in …
polarity and integrity of embryonic epithelia. The family comprises different isoforms in …
[HTML][HTML] Advancements in pre-clinical development of gene editing-based therapies to treat inherited retinal diseases
One of the major goals in the inherited retinal disease (IRD) field is to develop an effective
therapy that can be applied to as many patients as possible. Significant progress has …
therapy that can be applied to as many patients as possible. Significant progress has …
[HTML][HTML] Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis
A Daher, M Banjak, J Noureldine, J Nehme… - BMC …, 2024 - Springer
Purpose The goal of the study was to search for novel bi-allelic CRB1 mutations, and then to
analyze the CRB1 literature at the genotypic and phenotypic levels. Approach We screened …
analyze the CRB1 literature at the genotypic and phenotypic levels. Approach We screened …
A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility
MM Sylla, M Kolesinkova, BL da Costa… - Documenta …, 2023 - Springer
Abstract Introduction Leber Congenital Amaurosis (LCA) is an inherited retinal disease that
presents in infancy with severely decreased vision, nystagmus, and extinguished …
presents in infancy with severely decreased vision, nystagmus, and extinguished …
Elevated Plasma Complement Factors in CRB1-associated Inherited Retinal Dystrophies
L Moekotte, JH Boer, S Hiddingh, A Ligt, XTA Nguyen… - medRxiv, 2023 - medrxiv.org
Objective: To determine the profile of inflammation-related proteins and complement system
factors in serum of CRB1-associated inherited retinal dystrophies (CRB1-IRDs). Design: A …
factors in serum of CRB1-associated inherited retinal dystrophies (CRB1-IRDs). Design: A …