https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:49798 Wed 31 May 2023 15:38:53 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:40462 Wed 27 Jul 2022 11:59:24 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:14360 Wed 11 Apr 2018 17:15:26 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19379 Wed 11 Apr 2018 14:19:24 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:29133 Wed 07 Jul 2021 12:14:12 AEST ]]> 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:55151 Tue 16 Apr 2024 15:23:35 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:46235 Tue 15 Nov 2022 08:51:17 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:38900 POT1, ACD, and TERF2IP mutations among Polish melanoma patients. A cohort of 60 patients from melanoma-prone families, 1500 unselected cases and 1500 controls were genotyped. Methodology included Sanger sequencing, in-silico software predilection, and TaqMan assays. We identified three nonsynonymous variants: POT1 c.903 G>T; TERF2IP c.970 A>G; and ACD c.1544 T>C and a splice site variant ACD c.645 G>A. The c.903 G>T was predicted to be pathogenic according to PolyPhen-2, benign according to Mutation Taster, PROVEAN, AGVGD, and SIFT. The c.645 G>A was defined as disease caused by Mutation Taster and Human Splicing Finder and as variant of unknown significance by ClinVar. The other detected variants were described as benign. The c.903 G>T variant was present in two unselected cases and one control [P = 0.57, odds ratio (OR) = 2.00]; the c.645 G>A variant was not detected among the unselected cases and the controls; the c.970 A>G variant was present in 110 cases and 133 controls (P = 0.14, OR = 0.81); the c.1544 T>C variant was present in 687 cases and 642 controls (P = 0.11, OR = 1.07). We found no loss of heterozygosity of the c.903 G>T, c.970 A>G, and c.645 G>A variants. C.645 G>A variant had no effect on splicing or expression. The changes in POT1 c.903 G>T and ACD c.645 G>A can be classified as rare variants of unknown significance, the other variants appear to be polymorphisms. Germline mutations in POT1, ACD, and TERF2IP are infrequent among Polish melanoma patients.]]> Tue 01 Mar 2022 16:02:13 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:415 Thu 25 Jul 2013 09:10:05 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:53391 Thu 23 Nov 2023 13:37:04 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:43322 Thu 15 Sep 2022 14:43:38 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:41255 Sat 30 Jul 2022 13:01:25 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:8177 Sat 24 Mar 2018 08:36:15 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:1017 Sat 24 Mar 2018 08:29:47 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:1443 Sat 24 Mar 2018 08:28:07 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20202 Sat 24 Mar 2018 08:06:49 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:17904 Sat 24 Mar 2018 07:56:40 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19118 Sat 24 Mar 2018 07:55:52 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:5211 Sat 24 Mar 2018 07:47:45 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:5341 Sat 24 Mar 2018 07:45:56 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:4785 Sat 24 Mar 2018 07:20:44 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:24614 T, p.Q301*). The mutation segregated with the disease in the family and was not observed in over 100 000 control X chromosomes. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals. Conclusions: The association of RNF113A mutation with non-photosensitive TTD identifies a new locus for these disorders on the X chromosome. The extended phenotype within this family includes panhypopituitarism, cutis marmorata and congenital short oesophagus.]]> Sat 24 Mar 2018 07:11:55 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45486 Fri 28 Oct 2022 14:50:18 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:39219 HFE p.C282Y variant can cause iron overload and hemochromatosis, mostly in homozygous males. Objective: To estimate p.C282Y associations with brain MRI features plus incident dementia diagnoses during follow-up in a large community cohort. Methods: UK Biobank participants with follow-up hospitalization records (mean 10.5 years). MRI in 206 p.C282Y homozygotes versus 23,349 without variants, including T2* measures (lower values indicating more iron). Results: European ancestry participants included 2,890 p.C282Y homozygotes. Male p.C282Y homozygotes had lower T2* measures in areas including the putamen, thalamus, and hippocampus, compared to no HFE mutations. Incident dementia was more common in p.C282Y homozygous men (Hazard Ratio HR = 1.83; 95% CI 1.23 to 2.72, p = 0.003), as was delirium. There were no associations in homozygote women or in heterozygotes. Conclusion: Studies are needed of whether early iron reduction prevents or slows related brain pathologies in male HFE p.C282Y homozygotes.]]> Fri 27 May 2022 11:37:31 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:44100 –9 and replicated the finding in the validation set (OR 1.48; 95% CI 1.09–1.99; P = .01). The minor allele frequency showed the same effect size (OR > 1) among ethnic groups. The strongest association was with amoxicillin and clavulanate-associated DILI in persons of European ancestry (OR 1.62; 95% CI 1.32–1.98; P = 4.0 × 10^–6; allele frequency = 13.3%), but the polymorphism was associated with DILI of other causes (OR 1.37; 95% CI 1.21–1.56; P = 1.5 × 10^–6; allele frequency = 11.5%). Among amoxicillin- and clavulanate-associated cases of European ancestry, rs2476601 doubled the risk for DILI among those with the HLA risk alleles A*02:01 and DRB1*15:01. Conclusions: In a genome-wide association study, we identified rs2476601 in PTPN22 as a non-HLA variant that associates with risk of liver injury caused by multiple drugs and validated our finding in a separate cohort. This variant has been associated with increased risk of autoimmune diseases, providing support for the concept that alterations in immune regulation contribute to idiosyncratic DILI.]]> Fri 07 Oct 2022 14:21:42 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:36768 Fri 03 Jul 2020 14:41:43 AEST ]]>