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

Slides:

Advertisements

Similar presentations

Figure Pedigrees of the SCA42 families identified in this study

Advertisements

Figure 2 ERG amplitude reduction in the follow-up study

Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

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

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

Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.

Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 2 Needle biopsy of the left vastus lateralis

Figure 3 Immunohistochemical analyses of positive and negative Epstein-Barr virus (EBV) control tissues using immunostaining Immunohistochemical analyses.

Figure Cerebral MRI and molecular and enzymatic analysis

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

Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

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 1 Histopathologic features of a chronic active and a chronic plaque in the MS brain Histopathologic features of a chronic active and a chronic plaque.

Figure Pedigree of the family

Figure Revised Niemann-Pick disease type C (NP-C) diagnostic algorithm for the use of biomarkers and genetic testing Revised Niemann-Pick disease type.

Figure 3 Transcripts of the splicing mutation (c

Figure 1 Quantitative spinal cord MRI maps and segmentations

Figure 3 Complete loss of neurofilament light (NEFL) protein in cultured patient neurons Complete loss of neurofilament light (NEFL) protein in cultured.

Supplemental Figure 3 A B C T-DNA 1 2 RGLG1 2329bp 3 T-DNA 1 2 RGLG2

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 2 Correlation between total IgG levels and anti-AQP4 IgG titer

Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2 Biao.

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 WDR45 sequence changes in patients A and B

Figure 3 Temporal trends in FALS incidence

Figure 1 All patients with pediatric genetic movement disorders, their genetic diagnoses, and type of genetic investigations All patients with pediatric.

Figure 5 Neurite structure is not disrupted by the lack of neurofilament light (NEFL)‏ Neurite structure is not disrupted by the lack of neurofilament.

Figure 2 Linkage analysis of chromosome 19

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

Figure 3 Detection of JC virus (JCV) genomic DNA in mildly enlarged nuclei of oligodendroglia-like cells Detection of JC virus (JCV) genomic DNA in mildly.

Figure 2 DNA sequence analysis of VPS37A

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

Figure 1 Family pedigree and MRI

Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.

Figure 2 Functionally significant genes

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 Family pedigree and DNA sequencing results

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

Wook Lew Journal of Investigative Dermatology

Figure 2 Imaging, histopathology, and molecular evaluation of case 3 with subtler MRI findings Imaging, histopathology, and molecular evaluation of case.

Figure 1 Pedigree and genetic findings

Figure 1 Histamine flare in patients and controls

Figure 2 Interactome analyses in bvFTD

Figure 1 Considerations for concussed athletes leading to medical care or return to sport (RTS)‏ Considerations for concussed athletes leading to medical.

Figure 2 Longitudinal relationship between CSF glucose and protein changes Longitudinal relationship between CSF glucose and protein changes Delta glucose.

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 Identification of a heterozygous mutation in POLR3F, protein structure, and pedigree Identification of a heterozygous mutation in POLR3F, protein.

Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations Family pedigrees, clinical photographs,

Figure 2 Pathogenic deletions upstream of LMNB1

Figure 1 bvFTD PINBPA network

Figure 1 Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations Schematic representation of FOXG1 gene, protein.

Figure 2 Seizure outcomes

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

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

Figure 2 Pedigrees of families and segregation analysis of variants c

Figure Lysosome dysfunction observed in patient-derived fibroblasts with the TMEM106B p.Asp252Asn substitution Lysosome dysfunction observed in patient-derived.

Figure 2 Immunoblotting of erythrocyte membranes, lymphoblastoid cells, and co-immunoprecipitants Immunoblotting of erythrocyte membranes, lymphoblastoid.

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 Pedigree, neuroimaging, and gene analysis

Figure 4 Venn diagram for B-cell Sup proteins compared with proteins from exosome-enriched fractions from a human B-cell line Venn diagram for B-cell Sup.

Figure 1 Analysis of CNVs of LMNB1 and its upstream region

Figure 4 Western blotting

Presentation transcript:

Figure Results of duplication analysis and patient 11's chorein analysis and geographical distribution of VPS13A mutations Results of duplication analysis and patient 11's chorein analysis and geographical distribution of VPS13A mutations Results of qPCR for each exon of the VPS13A gene (A), results of genomic PCR performed with a forward primer located in intron 45 and reverse primer located in intron 35 (B), breakpoint in genomic sequence (C), Western blotting for patient 11 (D), and geographical distribution of VPS13A mutations (E). (A) The RQ value of normal controls is approximately 1.0. The extent of a predicted duplication is indicated by arrows. The figure shows the results of qPCR for each exon of the VPS13A gene in patient 16. Comparable results were observed in patient 17. These results suggest heterozygous duplication of exon 36–45. (B) A direct connection between introns 45 and 35 was observed in the genomic DNA of patients. In this connection, a repeated AAAA sequence, which was common between the 5′ end of intron 35 and the 3′ end of intron 45, was observed. (C) Forward primer was located in intron 45. Reverse primer was located in intron 35. Genomic PCR using this combination of primers led to an approximately 7,300 bp PCR product (theoretically 7,319 bp long; arrow) including the predicted junction in 2 patients, but no PCR product in the control. (D) Equal loading was shown by staining with Memcode Reversible Protein Stain (Thermo Fisher Scientific, Waltham, MA), shown in the right panel. Chorein immunoreactivity at 360 kDa was observed in the normal control, but not in patients with ChAc other than patient 11. A considerable reduction in chorein levels was observed for patient 11. (E) Solid-colored circles represent patients who have homozygous mutations. Gradient-colored circles represent patients who have heterozygous mutations. Single red circles indicate exon 60–61 deletion, and single blue circles indicate exon 37 4411C>T mutations. The patients carrying these 2 mutations are localized in western Japan. Some patients who could not identify their ancestral origin provided their address. The map was obtained from aoki2.si.gunma-u.ac.jp/map/map.cgi. ChAc = chorea-acanthocytosis; qPCR = quantitative PCR; VPS13A = vacuolar protein sorting 13A. Yoshiaki Nishida et al. Neurol Genet 2019;5:e332 Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.