https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:44984 CDKN2A-variants. A replication study using a set of 1,200 melanoma patient DNA samples and similarly large series of healthy controls was undertaken. Results: We selected 21 potentially deleterious variants in 20 genes (VRK1, MYCT1, DNAH14, CASC3, MS4A12, PRC1, WWOX, CARD6, EXO5, CASC3, CASP8AP2, STK33, SAMD11, CNDP2, CPNE1, EFCAB6, CABLES1, LEKR1, NUDT17, and RRP15), which were identified by WES and confirmed by Sanger sequencing for an association study. Evaluation of the allele distribution among carriers and their relatives in available family trios revealed that these variants were unlikely to account for many familial cases of melanoma. Replication study revealed no statistically significant differences between cases and controls. Conclusion: Although most of the changes seemed to be neutral we could not exclude an association between variants in VRK1, CREB3L3, EXO5, and STK33 with melanoma risk.]]> Wed 26 Oct 2022 09:22:11 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:38853 r = 0.3–0.5; P ≤ 0.05). Total ARCS predicts cognitive impairment with good sensitivity and specificity relative to the BICAMS tests (AUC = 0.8; P = 0.00045). Total ARCS detects higher levels of impairment than BICAMS in MS patients (44% versus 21%). The memory domain of the ARCS and the BVMT-R were the best predictors of employment status (OR = 1.12 and 1.14, P  < 0.05). Conclusion: BICAMS and ARCS have comparable sensitivity for cognitive impairment in MS. Memory assessment from either tests is the best predictor of employment status; however, the BICAMS is a better predictor of work productivity.]]> Wed 23 Nov 2022 15:41:25 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:53345 Wed 22 Nov 2023 10:19:25 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:48596 Wed 22 Mar 2023 08:46:40 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26346 Wed 11 Apr 2018 13:23:03 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:49147 Wed 07 Feb 2024 15:06:36 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:43460 SCN1A mutations that cause Dravet Syndrome (DS). DNA samples (n = 7) from DS patients previously shown to carry SCN1A mutations via Ion Torrent and Sanger sequencing were sequenced using the MinION. SCN1A amplicons for 8 exons were sequenced using the MinION with 1D chemistry on an R9.4 flow cell. All known missense mutations were detected in all samples showing 100 % concordance with results from other methods. However, the MinION failed to detect the insertions/deletions (INDELs) present in these patients. Nevertheless, these results indicate that MinION is a cost-effective platform for use as an initial screening step in the detection of nucleotide substitution mutations in in SCN1A, especially in under-resourced laboratories or hospitals. Further improvements are required to reliably detect INDELS in this gene.]]> Tue 20 Sep 2022 08:42:26 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:54378 Tue 20 Feb 2024 20:24:50 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:52582 Tue 17 Oct 2023 15:55:43 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:35898 Tue 14 Jan 2020 11:55:50 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:47078 Tue 13 Dec 2022 16:28:39 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:42900 Tue 06 Sep 2022 15:14:33 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:33809 -4). We did not find evidence that SNP genotype was influencing the DMR in this cohort. A smaller MHC DMR was also identified at HCG4B, and two non-MHC DMRs at PM20D1 on chr1 and ERICH1 on chr8 were also identified. Conclusions: The findings from this study confirm our previous results of a DMR at HLA-DRB1 and also suggest hypermethylation in an independent MHC locus, RNF39, is associated with MS. Taken together, our results highlight the importance of epigenetic factors at the MHC locus in MS independent of treatment, age and sex. Prospective studies are now required to discern whether methylation at MHC is involved in influencing risk of disease onset or whether the disease itself has altered the methylation profile.]]> Tue 03 Sep 2019 18:30:43 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26056 Thu 28 Oct 2021 12:37:14 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:55006 Thu 28 Mar 2024 13:52:11 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45379 Thu 27 Oct 2022 15:58:23 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:51627 Thu 23 Nov 2023 14:26:15 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:32442 Thu 09 Dec 2021 11:04:09 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:18790 Sat 24 Mar 2018 07:51:07 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:38628 + T cells of relapsing–remitting (RR) MS patients compared to healthy controls and identified differentially methylated regions (DMRs) in HLA-DRB1 and RNF39. This study aimed to investigate the DNA methylation profiles of the CD4⁺ T cells of progressive MS patients. DNA methylation was measured in two separate case/control cohorts using the Illumina 450K/EPIC arrays and data was analysed with the Chip Analysis Methylation Pipeline (ChAMP). Single nucleotide polymorphisms (SNPs) were assessed using the Illumina Human OmniExpress24 arrays and analysed using PLINK. Expression was assessed using the Illumina HT12 array and analysed in R using a combination of Limma and Illuminaio. We identified three DMRs at HTR2A, SLC17A9 and HDAC4 that were consistent across both cohorts. The DMR at HTR2A is located within the bounds of a haplotype block; however, the DMR remained significant after accounting for SNPs in the region. No expression changes were detected in any DMRs. HTR2A is differentially methylated in progressive MS independent of genotype. This differential methylation is not evident in RRMS, making it a potential biomarker of progressive disease.]]> Mon 29 Jan 2024 17:52:47 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:35542 Mon 26 Aug 2019 15:28:04 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:47575 Mon 23 Jan 2023 14:00:36 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:54090 Mon 05 Feb 2024 09:20:42 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:53845 .1). Conclusion: We found evidence of loss of GM and TBV over time in pwMOGAD, similar to pwMS, although the WM and lesion volumes were unchanged.]]> Fri 19 Jan 2024 10:18:15 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:37082 Fri 14 Aug 2020 14:27:43 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:52991 Fri 03 Nov 2023 16:05:35 AEDT ]]>