Cellular and molecular mechanisms of pathogenesis underlying inherited retinal dystrophies
A Manley, BI Meshkat, MM Jablonski, TJ Hollingsworth - Biomolecules, 2023 - mdpi.com
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …
The Musashi proteins direct post-transcriptional control of protein expression and alternate exon splicing in vertebrate photoreceptors
F Matalkah, B Jeong, M Sheridan, E Horstick… - Communications …, 2022 - nature.com
The Musashi proteins, MSI1 and MSI2, are conserved RNA binding proteins with a role in
the maintenance and renewal of stem cells. Contrasting with this role, terminally …
the maintenance and renewal of stem cells. Contrasting with this role, terminally …
Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature
SH Yassin, R Henderson, J Lenberg… - American Journal of …, 2023 - Wiley Online Library
Pre‐mRNA splicing factors are crucial in regulating transcript diversity, by removing introns
from eukaryotic transcripts, an essential step in gene expression. Splicing of pre‐mRNA is …
from eukaryotic transcripts, an essential step in gene expression. Splicing of pre‐mRNA is …
[Retracted] Susceptibility Loci in SLC15A1, UGT1A3, and CWC27 Genes Associated with Bladder Cancer in the Northeast Chinese Population
P Wu, Y Guo - BioMed Research International, 2022 - Wiley Online Library
Bladder cancer (BCa) is an increasingly severe clinical and public health issue. Therefore,
we aim to investigate BCa susceptibility loci in the Chinese population. In this study, 487 …
we aim to investigate BCa susceptibility loci in the Chinese population. In this study, 487 …
Depletion of retinal dopaminergic activity in a mouse model of rod dysfunction exacerbates experimental autoimmune uveoretinitis: a role for the gateway reflex
A Stofkova, M Zloh, D Andreanska, I Fiserova… - International Journal of …, 2021 - mdpi.com
The gateway reflex is a mechanism by which neural inputs regulate chemokine expression
at endothelial cell barriers, thereby establishing gateways for the invasion of autoreactive T …
at endothelial cell barriers, thereby establishing gateways for the invasion of autoreactive T …
Gene augmentation therapy to rescue degenerative photoreceptors in a Cwc27 mutant mouse model
J Lu, KQ Zheng, RE Bertrand, J Quinlan… - Experimental Eye …, 2023 - Elsevier
Previous reports have demonstrated that defects in the spliceosome-associated protein
CWC27 can lead to the degeneration of retinal cells in Cwc27 mutant mouse models …
CWC27 can lead to the degeneration of retinal cells in Cwc27 mutant mouse models …
[HTML][HTML] Discoveries in Retina Physiology and Disease Biology Using Single-Cell RNA Sequencing
Y Zong, S Xiao, D Lei, H Li - Frontiers in Bioscience-Landmark, 2023 - imrpress.com
The retina, a component of the central nervous system, is composed of six distinct neuronal
types and various types of glial cells. A technique for single-cell transcriptome analysis …
types and various types of glial cells. A technique for single-cell transcriptome analysis …
A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy
H Li, K Zheng, M Xie - Ophthalmic Genetics, 2024 - Taylor & Francis
Background CWC27-related spliceosomeopathy is a rare autosomal recessive disorder with
only 14 patients have been reported. It is characterized by retinal degeneration, short …
only 14 patients have been reported. It is characterized by retinal degeneration, short …
Reconstruction of a Comprehensive Interactome and Experimental Data Analysis of FRA10AC1 May Provide Insights into Its Biological Role in Health and Disease
T Sarafidou, E Galliopoulou, D Apostolopoulou… - Genes, 2023 - mdpi.com
FRA10AC1, the causative gene for the manifestation of the FRA10A fragile site, encodes a
well-conserved nuclear protein characterized as a non-core spliceosomal component. Pre …
well-conserved nuclear protein characterized as a non-core spliceosomal component. Pre …
Defects of pre-mRNA splicing causing retitinis pigmentosa
Y Pakhomova - 2024 - dspace.cuni.cz
Retinitis pigmentosa is a genetic disorder affecting the retina. The progression of the
disease leads to vision loss. This thesis concentrates on the causation of autosomal …
disease leads to vision loss. This thesis concentrates on the causation of autosomal …