Helena H. Liang
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View article: Large-scale drug screening in iPSC-derived motor neurons from sporadic ALS patients identifies a potential combinatorial therapy
Large-scale drug screening in iPSC-derived motor neurons from sporadic ALS patients identifies a potential combinatorial therapy Open
Heterogeneous and predominantly sporadic neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS), remain highly challenging to model. Patient-derived induced pluripotent stem cell (iPSC) technologies offer great promise for…
View article: Generation of fluorescein angiography images from color fundus photographs enhances the diagnosis of central serous chorioretinopathy
Generation of fluorescein angiography images from color fundus photographs enhances the diagnosis of central serous chorioretinopathy Open
Objective: To enhance the diagnosis of central serous chorioretinopathy (CSC) by generating personalized fundus fluorescein angiography (FFA) from color fundus photographs (CFP). Subjects: We collected CFP and FFA images of 249 CSC and 110…
View article: Patient Characteristics Are Associated with Appointment “No-Show” at a Tertiary Academic Glaucoma Service: A Cross-Sectional Study
Patient Characteristics Are Associated with Appointment “No-Show” at a Tertiary Academic Glaucoma Service: A Cross-Sectional Study Open
Introduction: Appointment “no-shows” (NS) are a significant issue for glaucoma patients, potentially leading to loss to follow-up, disease progression, and irreversible vision loss. This study investigates sociodemographic and clinical ris…
View article: Deep Learning-Based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell Morphology
Deep Learning-Based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell Morphology Open
View article: High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma Open
Introduction Primary open angle glaucoma (POAG) is a leading cause of blindness globally. Characterized by progressive retinal ganglion cell degeneration, the precise pathogenesis remains unknown. Genome-wide association studies (GWAS) hav…
View article: A semi-automated pipeline for quantifying drusen-like deposits in human induced pluripotent stem cell-derived retinal pigment epithelium cells
A semi-automated pipeline for quantifying drusen-like deposits in human induced pluripotent stem cell-derived retinal pigment epithelium cells Open
Age-Related Macular Degeneration (AMD) is a highly prevalent form of retinal disease amongst Western communities over 50 years of age. A hallmark of AMD pathogenesis is the accumulation of drusen underneath the retinal pigment epithelium (…
View article: High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma Open
INTRODUCTION Primary open angle glaucoma (POAG) is a leading cause of blindness globally. Characterised by progressive retinal ganglion cell degeneration, the precise pathogenesis remains unknown. Genome-wide association studies (GWAS) hav…
View article: Deep Learning-based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell and Organelle Morphology
Deep Learning-based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell and Organelle Morphology Open
PURPOSE The exact pathogenesis of primary open-angle glaucoma (POAG) is poorly understood. Genome-wide association studies (GWAS) have recently uncovered many loci associated with variation in intraocular pressure (IOP); a crucial risk fac…
View article: Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration Open
View article: Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma
Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma Open
View article: Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration
Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration Open
This study provides genetic evidence that increased alcohol intake may be a causal risk factor for GA. As there are currently no known treatments for GA, this finding has important public health implications. These results also support pre…
View article: Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration Open
Induced pluripotent stem cells generated from patients with geographic atrophy as well as healthy individuals were differentiated to retinal pigment epithelium (RPE) cells. By integrating transcriptional profiles of 127,659 RPE cells gener…
View article: Retinal ganglion cell-specific genetic regulation in primary open angle glaucoma
Retinal ganglion cell-specific genetic regulation in primary open angle glaucoma Open
To assess the transcriptomic profile of disease-specific cell populations, fibroblasts from patients with primary open-angle glaucoma (POAG) were reprogrammed into induced pluripotent stem cells (iPSCs) before being differentiated into ret…
View article: Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
View article: Additional file 9 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Additional file 9 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
Additional file 9: Table S8. eGenes with independent top eQTLs in different cell types.
View article: Additional file 5 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Additional file 5 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
Additional file 5: Table S4. Differentially expressed genes in specific iPSC types.
View article: Additional file 8 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Additional file 8 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
Additional file 8: Table S7. Transcription factor binding motifs that are interrupted by eQTL SNPs.
View article: Additional file 3 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Additional file 3 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
Additional file 3: Table S2. Top 50 transcription factors regulating iPSC cell types.
View article: Additional file 11 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Additional file 11 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
Additional file 11: Table S10. eQTL models tested.
View article: Additional file 10 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Additional file 10 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
Additional file 10: Table S9. eQTLs that demonstrate SNP-cell type interactions.
View article: Additional file 6 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Additional file 6 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
Additional file 6: Table S5. Significant fibroblast type eQTLs.
View article: Additional file 4 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Additional file 4 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
Additional file 4: Table S3. Differentially expressed genes in specific fibroblast types.
View article: Additional file 7 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Additional file 7 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
Additional file 7: Table S6. Significant iPSC type eQTLs.
View article: Additional file 2 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Additional file 2 of Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
Additional file 2: Table S1. Top 50 transcription factors regulating fibroblast cell types.
View article: Investigating the role of APOE: limitations of human pluripotent stem cell-derived cerebral organoids
Investigating the role of APOE: limitations of human pluripotent stem cell-derived cerebral organoids Open
Summary Apolipoprotein E (APOE) is the most important susceptibility gene for late onset of Alzheimer’s disease, with the presence of APOE-ε4 associated with increased risk of developing Alzheimer’s disease. Here, we reprogrammed human fib…
View article: Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells
Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells Open
The discovery that somatic cells can be reprogrammed to induced pluripotent stem cells (iPSCs) - cells that can be differentiated into any cell type of the three germ layers - has provided a foundation for in vitro human disease modelling …
View article: A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration Open
View article: CRISPR/Cas-mediated base editing of the AMD high-risk Y402H complement factor H variant
CRISPR/Cas-mediated base editing of the AMD high-risk Y402H complement factor H variant Open
View article: Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant.
Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant. Open
CRISPR-mediated base editing can be used to facilitate a permanent and stably inherited cytosine-to-thymine nucleotide correction of the rs1061170 SNP in the CFH gene with minimal off-target effects.
View article: Single-Cell Profiling Identifies Key Pathways Expressed by iPSCs Cultured in Different Commercial Media
Single-Cell Profiling Identifies Key Pathways Expressed by iPSCs Cultured in Different Commercial Media Open