[HTML][HTML] Biallelic Heterozygous Mutations in Crumbs Homolog-1 Gene Associated With Macular Retinoschisis and Angle-Closure Glaucoma: A Case Report and …

JX Sun, HX Yan, D Hu, J Zhou, YS Wang… - Frontiers in …, 2022 - frontiersin.org
Background: Mutations in the Crumbs homolog-1 (CRB1) gene are associated with a variety
of retinal degenerations including Leber congenital amaurosis (LCA) and retinitis …

[PDF][PDF] Mulder,.., onge an

TM Buck, PM Quinn… - Lu, XF,… Wi …, 2023 - scholarlypublications …
SUMMARY CRB1 gene mutations can cause early-or late-onset retinitis pigmentosa, Leber
congenital amaurosis, or maculopathy. Recapitulating human CRB1 phenotypes in animal …

Cell Polarity in Drosophila Retina

SC Nam - Molecular Genetics of Axial Patterning, Growth and …, 2020 - Springer
Apical-basal cell polarity is crucial for the development of multicellular organisms and for the
diverse functions of epithelial cells in diverse organs. Cell polarity in epithelial cells is …

[PDF][PDF] Inherited retinal degenerations: clinical characterization on the road to therap

M Talib - 2022 - scholarlypublications …
ARRP autosomal recessive retinitis pigmentosa AZOOR acute zonal occult outer retinopathy
BCVA best-corrected visual acuity BCEA bivariate contour ellipse area CF counting fingers …

[PDF][PDF] Mécanismes de localisation de la protéine de polarité Yurt

F Parent-Prévost - 2020 - corpus.ulaval.ca
Résumé Introduction. La distribution asymétrique des composantes cellulaires au sein des
cellules épithéliales résulte en une polarité apico-basale, laquelle divise la cellule en un …

[引用][C] Orchestration of tissue‐scale mechanics and fate decisions by polarity signalling

M Carvalho Fernandes Dias Gomes - 2021 - Deutsche Nationalbibliothek

[PDF][PDF] Thilo M. Buck, Peter MJ Quinn, Lucie P. Pellissier, 2, 10 Aat A. Mulder, 3 Aldo Jongejan, 4 Xuefei Lu, Nanda Boon, Daniëlle Koot, Hind Almushattat, Christiaan …

F Baas, AJ Koster, J Neefjes, I Berlin, CR Jost… - pure.knaw.nl
SUMMARY CRB1 gene mutations can cause early-or late-onset retinitis pigmentosa, Leber
congenital amaurosis, or maculopathy. Recapitulating human CRB1 phenotypes in animal …

[PDF][PDF] Characterization and AAV-Mediated Gene Therapy in Human Derived CRB1KO and CRB1KOCRB2+/-Retinal Organoids

N Boon - scholarlypublications …
Using human induced pluripotent stem cell (hiPSC)-derived models for ophthalmology
research is an emerging strategy to explore patient phenotypes in vitro, which allows access …

[PDF][PDF] Nanda Boon, Xuefei Lu, Charlotte A. Andriessen, Ioannis Moustakas, 2 Thilo M. Buck, Christian Freund, 3

CH Arendzen, S Böhringer - researchgate.net
Retinitis pigmentosa and Leber congenital amaurosis are inherited retinal dystrophies that
can be caused by mutations in the Crumbs homolog 1 (CRB1) gene. CRB1 is required for …

[PDF][PDF] l es, CH, & Wi nholds,.(2021)

TM Buck, RM Vos - V-CRB2 protects against ision loss … - scholarlypublications …
Loss of Crumbs homolog 1 (CRB1) or CRB2 proteins in Müller cells or photoreceptors in the
mouse retina results in a CRB dose-dependent retinal phenotype. In this study, we present a …