Figure 3 qRT-PCR fold change comparison, disease vs CON, of splice vs no-splice primer sites qRT-PCR fold change comparison, disease vs CON, of splice.

Slides:

Advertisements

Similar presentations

Figure Pedigrees of the SCA42 families identified in this study

Advertisements

Figure Cerebral MRI and molecular and enzymatic analysis

Figure 1 Comparison of miR-150-5p (log scale), prednisone dose (mg), and QMG score between the thymectomy (ETTX) and prednisone groups Comparison of miR-150-5p.

Figure 2 FXTAS Rating Scale scores for case 1

Figure Pedigree of the family

Figure 2 Association between coronary artery disease polygenic risk score and the presence of migraine Results are given as odds ratios with 95% confidence.

Figure 3 Transcripts of the splicing mutation (c

Figure Increase of publications relating to genetics and neurology Pubmed was searched for the following advanced search term: (gene[Text Word]) OR mutation[Text.

Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.

Figure 1 8-Iso-PGF2α levels in CSF of patients with MS and controlsCSF 8-iso-prostaglandin F2α (8-iso-PGF2α) levels were estimated using an ELISA. (A)

Figure WDR45 sequence changes in patients A and B

Figure 3 Temporal trends in FALS incidence

Table 4 Associations in SNP array data between the Braak stage and previously known AD risk loci (341 variants) comparing participants with Braak stage.

Figure 1 Pedigrees of the early-onset Alzheimer disease families and SORL1 protein diagram Pedigrees of the early-onset Alzheimer disease families and.

Figure 1 SpliceSeq “splice graphs” for the 7 qRT-PCR tested genes

Figure 1 Characteristics of the German National MS Cohort

Figure 2 Linkage analysis of chromosome 19

Figure 1 Schematic overview of flow cytometry Schematic overview on the analysis of peripheral immune cells by flow cytometry. Schematic overview of flow.

Figure 1 Evolution of blood cell counts during 18-month treatment and follow-up (A) Mean white blood cell count, (B) mean lymphocyte count, (C) mean eosinophil.

Figure 2 Cerebral and spinal MRI (A) Restricted diffusion of both optic nerves (arrows) on diffusion-weighted and apparent diffusion coefficient imaging.

Figure Genetic deletion and MRI changes with EHMT1 deletion

Figure 3. Comparison of median manual muscle test scores in the upper and lower limbs Comparison of median manual muscle test scores in the upper and lower.

Figure 1 Within-groups sum of squares vs number of clusters Within-groups sum of squares vs number of clusters to determine the number needed for k-means.

Table 2 Rs number, gene, OR, 95% CI, and permutation p value for the statistical significant variants resulted from allelic association analysis association.

Figure 1 [18F]florbetapir standardized uptake value ratio analytical method [18F]florbetapir standardized uptake value ratio analytical method Flowchart.

Figure 3 Longitudinal performance of 2 MS–cohabitant participant pairs on Ishihara color testing Both response speed and response accuracy are provided.

QRT-PCR analysis of the role of MDL-1 in expression of infection-regulated genes. qRT-PCR analysis was performed on infection-regulated genes that have.

Figure 4. Electron microscopic findings in AP-5 patient cells

Figure 1 Annual trend in specimen type submitted as first sample for aquaporin-4 immunoglobulin G testing (serum only vs CSF only vs both) from 101,065.

Figure 5 Autopsy Mycoplasma DNA analysis

Figure Novel compound heterozygous mutation in the COLQ gene causes congenital myasthenic syndrome Novel compound heterozygous mutation in the COLQ gene.

Figure 2 P2Y12 expression is upregulated in M2-polarized human microglia(A, B) Using TaqMan quantitative real-time PCR, P2Y12 expression was measured in.

Figure 1 Pedigree and genetic findings

Figure 1 Histamine flare in patients and controls

Figure 4 Gray and white matter structural connectivity analyses in patients with PPA according to KIAA0319 genotype Pattern of gray matter (A) and white.

Figure 1 Percentage distribution according to severity of baseline behavioral changes in behavioral variant frontotemporal dementia (bvFTD) and semantic.

Figure Molecular structure Molecular structure of delta-9-tetrahydrocannabiol (THC) (left), which has psychoactive properties, compared to molecular structure.

Figure Family pedigree

Figure 2. Patient stratification by the reported duration of symptoms and disease severity at the time of assessment Patient stratification by the reported.

Figure 2 Global tau-PET distribution in familial prion disease mirrors the distribution seen in Alzheimer disease Global tau-PET distribution in familial.

Figure 2 Quality stages by disorder The x-axis lists each of the quality improvement and practice-based research projects in order of implementation at.

Figure 2 Repopulation of CD19+ cells in low and high BSA patients and calculation of the BSA Repopulation of CD19+ cells in low and high BSA patients and.

Figure 2 Pathogenic deletions upstream of LMNB1

Figure 1 Peripheral blood lymphocyte counts during dose titrationB-lymphocyte (CD19+; A) and total lymphocyte (CD45+; B) counts (cells/µL) in peripheral.

Figure 2 Neuroimaging characteristics of TARDBP carriers

(A) yellow cDNA comparison among wild-type and ch mutants

Figure Meta-analysis of 9 studies of patients with attention-deficit/hyperactivity disorder (ADHD) vs controls Meta-analysis of 9 studies of patients with.

Figure 1 bvFTD PINBPA network

Figure Joint tests of SNPs and vitamin D deficiency in CACNA1C and CACNA1D Joint tests of SNPs and vitamin D deficiency in CACNA1C and CACNA1D Each point.

Relative expression levels of three PTPN22 transcripts.

Yian Gu et al. Neurol Neuroimmunol Neuroinflamm 2019;6:e521

Ingo Kleiter et al. Neurol Neuroimmunol Neuroinflamm 2018;5:e504

Figure 1 Schematic of the OPA3 gene and OPA3 protein isoform b

Fig. 5 E2F1 also interacts with alternatively spliced transcripts from the MECOM gene. E2F1 also interacts with alternatively spliced transcripts from.

Gitanjali Das et al. Neurol Neuroimmunol Neuroinflamm 2018;5:e453

Figure 2 Pedigrees of families and segregation analysis of variants c

Figure 3. Sensitivity and specificity of microarray analysis in relation to target number Sensitivity and specificity of microarray analysis in relation.

Figure 2 Compound heterozygous mutations in ADAM22

Figure Unique second neurofibromatosis type 1 (NF1) gene mutations in multiple café-au-lait macules (CALMs) from an individual with segmental NF1 Unique.

Figure 2 LMNB1 mRNA expression

Figure 1 ASO functions ASO functions Target mRNA fates depending on ASO mechanism of action that is determined by where the ASO is targeted and by ASO.

Figure 3 Within-group comparisons (before–after)‏

Figure 1 Novel stopgain mutation in adenosine monophosphate deaminase 2 segregates with disease in family ACC1 and causes complete loss of protein Novel.

Figure 2 Striatal dopamine transporter binding with the SNCA A53E mutation Transaxial planes of [123I]FP-CIT SPECT on the striatal level are presented.

Figure Results of duplication analysis and patient 11's chorein analysis and geographical distribution of VPS13A mutations Results of duplication analysis.

Figure 2. Percentage of CD16− monocytes in the blood is reduced during disease progression Percentage of CD16− monocytes in the blood is reduced during.

Figure Genetic characterization of the novel GYG1 gene mutation (A) GYG1_cDNA sequence and position of primers used. Genetic characterization of the novel.

Keratinocyte-specific disruption of the Stat3 gene by the Cre-LoxP system. Keratinocyte-specific disruption of the Stat3 gene by the Cre-LoxP system. A,

A, Schematic diagram of identified splice variants of PD-L1.

Figure 1 Analysis of CNVs of LMNB1 and its upstream region

Presentation transcript:

Figure 3 qRT-PCR fold change comparison, disease vs CON, of splice vs no-splice primer sites qRT-PCR fold change comparison, disease vs CON, of splice vs no-splice primer sites Exon regions with expected alternative splicing activity are compared with flanking exon regions without predicted alternative splicing, “no-splice.” The dotted line indicates 100% inclusion (of a queried exon). CON = control; PD = Parkinson disease; PD-D = PD with dementia; qRT = quantitative real-time. Adrienne Henderson-Smith et al. Neurol Genet 2016;2:e75 © 2016 American Academy of Neurology