Figure 1 Kernel density plots

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 2011 Mayo Foundation for Medical Education and Research Novel late-onset Alzheimer’s disease loci variants associate with brain gene expression Mariet.

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Date of download: 7/2/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Genome-wide Interrogation of Germline Genetic Variation.

Figure Pedigrees of the SCA42 families identified in this study

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Comparison (θ) of the mean dinucleotide variability distribution for (A) genes with MAE vs. Comparison (θ) of the mean dinucleotide variability distribution.

Comparison (R) of the mean observed to expected dinucleotide distribution for (A) genes with MAE vs. Comparison (R) of the mean observed to expected dinucleotide.

Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.

NSAF and GeneChip datasets have similar PLGEM parameters.

Lipopolysaccharide binding protein promoter variants influence the risk for Gram-negative bacteremia and mortality after allogeneic hematopoietic cell.

Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.

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 2 Brain biopsy Brain biopsy (A) Double staining with anti-aquaporin-4 (AQP4) antibody (dark green) and Luxol fast blue (blue) is shown. Loss of.

Nat. Rev. Neurol. doi: /nrneurol

Figure 2. EZO levels in infants and young children compared to adults at similar doses EZO levels in infants and young children compared to adults at similar.

Figure Association of hippocampal subfield volumes to cognition by neopterin level, volumes, and cognition adjusted for age, education, race, sex, and.

Figure 1 Dominant and recessive missense and nonsense variants in neurofilament light (NEFL)‏ Dominant and recessive missense and nonsense variants in.

Figure 3 Temporal trends in FALS incidence

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

Figure 2 LocusZoom plots

Figure 1 Time points of blood sampling

Figure 2 Linkage analysis of chromosome 19

Figure 2 JCV index JCV index (A) Fifty samples of natalizumab-treated patients with multiple sclerosis were assessed twice for their anti-JCV antibody.

Figure 3 Mutation carrier–derived lymphoblastoid cell lines (LCLs) show decreased aconitase 2 activity and mitochondrial respiration deficiency compared.

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

Figure Family tree with the HLA haplotyping of 6 members of the family

Figure 4 Pattern of relapse in patients with MOG-Ab Five myelin oligodendrocyte glycoprotein antibody (MOG-Ab)–positive patients experienced a relapse,

Figure 4 Aquaporin-4 immunoglobulin G (AQP4-IgG) index in time-matched paired serum-CSF specimens: 3 attack/preattack pairs and 7 bridge/remission pairs.

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.

Comparison of proteomics and RNA‐Seq data.

Template-Directed Dye-Terminator Incorporation with Fluorescence Polarization Detection for Analysis of Single Nucleotide Polymorphisms Implicated in.

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.

Figure 2 Functionally significant genes

Figure 4 Voltage-clamp recordings of KCNJ18 carrying the patient's SNVs expressed in Xenopus laevis oocytes under control conditions and after application.

Fig. 2 Genotype-induced differential gene expression is different in MDMi cells compared to monocytes. Genotype-induced differential gene expression is.

Figure 1 JCV serostatus JCV serostatus (A) Serostatus of 1,921 natalizumab-treated patients with multiple sclerosis, with JCV− patients shown in black.

Figure 5 Pairwise correlations between selected patient-reported outcomes and performance tests in patients with MS (A) The number of pairwise correlations.

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

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 1 Association between serum levels of IL-18 and hippocampal volume in patients with schizophrenia Scatter plots show a positive correlation between.

Figure 1 Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and patients with frontotemporal dementia Mutated CTSF in adult-onset neuronal ceroid.

Figure 1 Histamine flare in patients and controls

Figure 3 Pedigrees of 3 multiplex families with NLRP3 mutations and MS The patient numbers refer to the patients listed in table 1. Pedigrees of 3 multiplex.

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 2 Changes in fatigue under treatment

Figure 2 Correlation between wGRS and age at onset The figure shows the correlation between weighted genetic risk score (wGRS) and age at onset in all.

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

Figure SCA10 in a Chinese Han family (A) Pedigree of the Chinese Han spinocerebellar ataxia type 10 (SCA10) family. SCA10 in a Chinese Han family (A) Pedigree.

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

Figure 1 Volcano plot Peptides (n = 2,260) showing distribution of fold change and statistical significance. Volcano plot Peptides (n = 2,260) showing.

Figure 3 Genotype-phenotype correlation in SPG7 mutations and age at onset of symptoms Genotype-phenotype correlation in SPG7 mutations and age at onset.

Distribution plot of the differentially expressed genes.

Figure Avidity of IgG specific for influenza A and B following flu vaccinationAvidity of immunoglobulin (Ig) G specific for influenza A and B before and.

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

Figure 1 bvFTD PINBPA network

Figure 1 Classical pathway and lectin pathway activity in patients with multifocal motor neuropathy and controls Classical pathway (CP) activity (A) and.

Figure 3. Temporal trends in individual serum lipid fractions in ICH patients by APOE allele carrier status Temporal trends in individual serum lipid fractions.

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.

Figure 2 Distribution of DEPDC5 variants in patients and controls

Figure 2 Cell-based assay demonstrating differential binding of AChR antibodies to the adult and fetal receptorsThe fetal (gamma subunit specific) and.

Figure 2 Pedigrees of families and segregation analysis of variants c

Figure 3 Regional gene expression enrichment across the lifespan

Figure Pedigree, neuroimaging, and gene analysis

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

Figure 2 Interleukin-6 concentrations in the CSF In 2 mutation carriers (patient 1 in dark blue triangle and patient 5 in light blue triangle carrying.

Single nucleotide polymorphism array analysis can distinguish different genetic mechanisms that lead to loss of heterozygosity (LOH). Single nucleotide.

Figure 4 Illustration of a practice effect by examining longitudinal performance measures in patients with MS and cohabitants (A) Response time for each.

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Figure 1 Kernel density plots Kernel density plots (A) CR1 TCX, (B) HLA-DRB1 TCX and (C) CER, (D) PILRB (ILMN_1723984) TCX and (E) CER gene expression residuals by relevant index SNP. Distribution of brain gene expression level residuals from all patients obtained after adjustment for all covariates is shown. Green line indicates distribution of gene expression residuals for homozygous minor individuals (Min); blue line indicates the same for heterozygotes (Het); red line indicates the same for major homozygotes (Maj). The number of individuals with each genotype is indicated on the plot (#). CER = cerebellum; SNP = single nucleotide polymorphism; TCX = temporal cortex. Mariet Allen et al. Neurol Genet 2015;1:e15 © 2015 American Academy of Neurology