Fig. 2. Reportedly pathogenic PRNP variants: Mendelian, benign, and intermediate variants. Reportedly pathogenic PRNP variants: Mendelian, benign, and.

Slides:

Advertisements

Similar presentations

Genetic Disease Juanita Saenz, Jackie Flynn, Christine Nguyen, Megan Truong, Neelum Iftikhar Fab Five.

Advertisements

Interpreting exomes and genomes: a beginner’s guide

Precision Cardiovascular Medicine: State of Genetic Testing

Type 2 Diabetes With type 2 diabetes, your body either resists the effects of insulin — a hormone that regulates the movement of sugar into your cells.

Pedigrees of the families of patients 1 and 2 show that the clinical phenotype co-segregates with compound heterozygous CLDN10 variants. Pedigrees of the.

Unit 5 “Mendelian Genetics”

Figure 1 Allele frequency and effect size for ALS-associated genes

CsEN components reveal precisely timed cellular programs that characterize the dynamic changes of the peripheral immune system over the course of pregnancy.

Precision Cardiovascular Medicine: State of Genetic Testing

High-Resolution Mapping of Genotype-Phenotype Relationships in Cri du Chat Syndrome Using Array Comparative Genomic Hybridization Xiaoxiao Zhang, Antoine.

Dominant negative CARD11 mutations: Beyond atopy

Fig. 7 Correlation of NHP and human ISGs.

Fig. 4. Peanut-specific TH2A cells are specifically targeted during immunotherapy. Peanut-specific TH2A cells are specifically targeted during immunotherapy.

Consolidated Standards of Reporting Trials flow diagram of VRC trial

Fig. 2. Clinically actionable somatic genomic alterations in various tumor types. Clinically actionable somatic genomic alterations in various tumor types.

Fig. 5. Microarray analysis of tumors treated by dabrafenib, trametinib, or the combination of dabrafenib and trametinib with pmel-1 ACT or mock ACT. Microarray.

Fig. 1. Schematic showing the shedding of tumor DNA from head and neck cancers into the saliva or plasma. Schematic showing the shedding of tumor DNA from.

Fig. 3. Comparison of prediction performance.

Fig. 7 Bacterial dependency networks in IgA deficiency and HDs.

Fig. 3 ROC curves of mCCNA1 and mVIM assayed in esophageal cytology brushings from control normal-appearing GE junctions versus BE and EAC cases. ROC curves.

Fig. 4. The effect of combined inhibition of BCL-2 and BCR-ABL on leukemia LT-HSC frequency. The effect of combined inhibition of BCL-2 and BCR-ABL on.

Analysis of protein-coding genetic variation in 60,706 humans

Fig. 6. Nontaxane chemotherapies induce TMEM-dependent prometastatic changes in the breast cancer microenvironment. Nontaxane chemotherapies induce TMEM-dependent.

Figure 2 Distribution of DEPDC5 variants in patients and controls

Exercise Testing in Variant Angina

Fig. 5. In vivo characterization of adipogenesis by CT.

Fig. 1. Value proposition. Value proposition.Summarized are the valuation estimates (log scale), from panel members (selected by A.W.L.) for the NCATS.

Fig. 3 NK cells are enriched in ICB-sensitive tumors in mouse models and patients and are required for response. NK cells are enriched in ICB-sensitive.

Fig. 2 LYM attractor metagene.

Genetic Features of Chinese Patients with Gitelman Syndrome:

Fig. 2. Bacterial/viral score in COCONUT-conormalized whole-blood validation data sets. Bacterial/viral score in COCONUT-conormalized whole-blood validation.

Colonization in tumor models and different modes of administration

Fig. 5. Vitamin B12 supplementation in the host altered the transcriptome of P. acnes in the skin microbiota. Vitamin B12 supplementation in the host altered.

Fig. 1 Inbred mouse strains carrying monoclonal tumors display a symmetrical yet disparate response to ICB, associated with a distinctive gene signature.

Fig. 4 Rational therapeutic modulation of the tumor microenvironment sensitizes tumors to ICB. Rational therapeutic modulation of the tumor microenvironment.

Fig. 3 BMS blocks functional responses in primary immune cells driven by IL-23 and IL-12. BMS blocks functional responses in primary immune.

Fig. 2 Inflammatory pathways with STAT1 as a key regulator are enriched in ICB responsive tumors in mouse models and patients. Inflammatory pathways with.

BMS blocks functional responses in primary immune cells driven by IFNα

Fig. 1. Detection of circulating tumor DNA in CRPC patients.

CsEN components reveal precisely timed cellular programs that characterize the dynamic changes of the peripheral immune system over the course of pregnancy.

Fig. 4. Long-term persistence of CTL019 cells and polyfunctionality in patients achieving CR. Long-term persistence of CTL019 cells and polyfunctionality.

The microchip-based drug delivery device and overview of study design

Fig. 1. Reports rising. Reports rising. Number of publications recorded in Scopus that have, in the title or abstract, at least one of the following expressions:

Fig. 1. A model to explain the pleiotropy of CEP290 disease.

Fig. 2. Mutational signature exposures in Taiwan HCCs and summary of AA signature mutations. Mutational signature exposures in Taiwan HCCs and summary.

AEGIS autonomous targeting process.

Western blot analysis of skin tissue from CJD and non-CJD patients

Fig. 4 PD-L1 expression is found in the spleen and the BM of mice transplanted with JAK2V617F-transduced bone marrow. PD-L1 expression is found in the.

Fig. 2 PK dosing results. PK dosing results. (A) Plasma concentration of hPTH(1–34) versus time after release of 40-μg dose from implanted microchip device.

Fig. 3 Measurement of real-world, high-risk opioid use events.

Contrast agent uptake for the four different groups of MMA mice

LTB4 production is elevated in preclinical and clinical lymphedema

Fig. 1 Crohn’s disease association within the LRRK2 locus.

Fig. 8. Purkinje cell quantification and hearing threshold in NPC cats administered IC HPβCD. Purkinje cell quantification and hearing threshold in NPC.

by Peter Bacchetti, Steven G. Deeks, and Joseph M. McCune

Evaluation of clinical responses after infusion of CART19 cells

Delineating cancer evolution with single-cell sequencing

Fig. 1. Frequency of reportedly pathogenic PRNP variants: >30 times higher in controls than expected on the basis of disease incidence. Frequency of reportedly.

Fig. 5. High burdens of AA signature mutations and predicted immunogenicity in Taiwan HCCs. High burdens of AA signature mutations and predicted immunogenicity.

Fig. 1. Forecasting the future.

Fig. 8 DMN-Tre detects Mtb in sputum samples from patients with tuberculosis, similar to the auramine stain. DMN-Tre detects Mtb in sputum samples from.

Fig. 3. Association between peak CTL019 expansion and response.

Fig. 1. APP/PS1;C3 KO mice show improved cognitive flexibility (reversal) compared to APP/PS1 mice at 16 months of age. APP/PS1;C3 KO mice show improved.

Fig. 1. Schematic description of whole-exome or targeted next-generation sequencing analyses. Schematic description of whole-exome or targeted next-generation.

Fig. 1 Isopropanol tolerance variation among E. faecium isolates.

Fig. 4 Gallium increases P. aeruginosa sensitivity to peroxides.

Fig. 8 Immune correlates of protection.

Fig. 5. Paclitaxel promotes breast cancer cell dissemination and metastasis in a MENA-dependent manner. Paclitaxel promotes breast cancer cell dissemination.

Fig. 6. Connectivity and mobility maps for Lesotho.

Fig. 2 Time series of secularization versus GDP per capita, from four illustrative countries, over the 20th century. Time series of secularization versus.

Presentation transcript:

Fig. 2. Reportedly pathogenic PRNP variants: Mendelian, benign, and intermediate variants. Reportedly pathogenic PRNP variants: Mendelian, benign, and intermediate variants. Previous evidence of pathogenicity is extremely strong for four missense variants—P102L, A117V, D178N, and E200K—each of which has been observed to segregate with disease in multiple multigenerational families (16–18, 93–97) and to cause spontaneous disease in mouse models (98–103). These account for >50% of genetic prion disease cases (table S1), yet are absent from ExAC (table S3) and collectively appear on five or fewer alleles in 23andMe’s cohort (table S5), indicating allele frequencies sufficiently low to be consistent with the prevalence of genetic prion disease (Fig. 1). Conversely, the variants most common in controls and rare in cases had categorically weak previous evidence for pathogenicity. R208C (eight alleles in 23andMe) and P39L were observed in patients presenting clinically with other dementias, with prion disease suggested as an alternative diagnosis solely on the basis of finding a novel PRNP variant (104, 105). E196A was originally reported in a single patient, with a sporadic Creutzfeldt-Jakob disease phenotype and no family history (36), and appeared in only 2 of 790 Chinese prion disease patients in a recent case series (106), consistent with the ~0.1% allele frequency among Chinese individuals in ExAC (tables S5 and S8). At least three variants (M232R, V180I, and V210I) occupy a space inconsistent either with neutrality or with complete penetrance (see main text and Fig. 3). R148H, T188R, V203I, R208H, and additional variants are discussed in Supplementary Discussion. Eric Vallabh Minikel et al., Sci Transl Med 2016;8:322ra9 Copyright © 2016, American Association for the Advancement of Science