18 research outputs found
Additional file 1: of Uteroglobin and FLRG concentrations in aqueous humor are associated with age in primary open angle glaucoma patients
This file contains Supplementary Tables S1 to S5, which report correlations to relevant clinical descriptors in the cataract and POAG groups. (DOCX 32 kb
Additional file 5: Table S4. of Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)
Sensitivity analysis for C4A copy number association. (DOCX 17 kb
Additional file 6: Figure S2. of Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)
Subgroup/sensitivity analysis in the pooled study of C4A copy number. Odds ratios and corresponding 95 % confidence intervals are given with the size of each rectangle representing the respective relative number of cases and controls in each subgroup. The protective effect of increasing C4A copy number is stronger in females and increases with age. Both effects can also be observed when conditioning on known AMD associated risk variants at the C2/CFB locus (rs429608, rs114190211, rs204993 and rs142511358 [9]) and are present in each of the individual studies. 95 % confidence intervals are indicated; N stands for the total number of individuals included in the analysis. (TIF 1946 kb
Additional file 9: Figure S4. of Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)
AMD associated haplotypes at the C2/CFB locus on chromosome 6. The phase at C2/CFB was assessed with SHAPEIT2 for each individual. In total, we found six haplotypes (H1-H6) with an allele frequency ≥ 1 % in the study. The haplotypes are characterized by the presence or absence of AMD associated alleles from four inpendent variations at this locus (rs429608, rs114190211, rs204993 and rs142511358 [9]). C4A CNVs are predominantly present on the adverse haplotype H2 (carrying the G allele of rs204993) and the protective haplotype H3 (carrying the A allele of rs429608). OR = Odds ratio, [95 % CI] = 95 % confidence intervals, SD = standard deviation. The haplotypes were numbered according to their frequency. (TIF 2488 kb
Additional file 7: Figure S3. of Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)
Sensitivity analysis for protective haplotype H3 at the C2/CFB locus. Phase at C2/CFB was assessed with SHAPEIT2 for each individual. Haplotypes are characterized by the presence or absence of AMD associated alleles from four inpendent variations at this locus (rs429608, rs114190211, rs204993 and rs142511358 [9]). Odds ratios and corresponding 95 % confidence intervals [95 % CI] are given with the size of each rectangle representing the respective relative number of cases and controls for each subgroup. The protective effect of haplotype H3 decreases with age (becomes less protective). (TIF 1225 kb
Additional file 2: of Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy
Association results for Proliferative Diabetic Retinopathy GWAS. Only SNPs with p <  0.05 are included in this file. (TXT 21943 kb
Additional file 1: of Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network
Characterization of iPSC lines. Figure S1. Immunostaining of DIAN iPSCs for pluripotency markers. iPSCs included in the collection were fixed and stained with antibodies to OCT4 and TRA1. Scale bar represents 100 μm. Figure S2. Quantitative assessment of pluripotent markers in DIAN iPSCs. iPSCs lines were analyzed by qPCR (TaqMan assay) to determine expression of pluripotency markers and, in lines reprogrammed with Sendai virus, the absence of Sendai virus. Human embryonic stem cells (H9) were included as a positive control. Genes are expressed relative to a housekeeping gene, GAPDH. Graphs represent mean normalized expressed ± SEM. Figure S3. Karyotypes of DIAN iPSCs. G-band karyotyping of iPSCs exhibit no chromosomal abnormalities in the clones represented in the collection. (PDF 12885 kb
Additional file 2: of Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network
Virtual karyotyping of iPSC lines. Figure S4. Virtual karyotyping. (PDF 102140 kb
Additional file 6: of Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis
Figure S3. Expression levels of the top 500 most variable transcripts in CD4 and CD8 cells, shown for each of 135 samples. Sample groups are indicated by the orange (CD4) and blue (CD8) bars at the top of the heatmap. (DOCX 555 kb
Additional file 5: of Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis
Table S3. General disease outcome and prognostic measures. (DOCX 38 kb