https://ogma.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS. https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:52402 Wed 28 Feb 2024 15:53:13 AEDT ]]> Evaluation of epigenetic methylation biomarkers for the detection of colorectal cancer using droplet digital PCR https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:52394 Wed 28 Feb 2024 15:33:56 AEDT ]]> Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45560 Wed 28 Feb 2024 15:21:35 AEDT ]]> Insertions within the Saxitoxin Biosynthetic Gene Cluster Result in Differential Toxin Profiles https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:44660 Scytonema crispum, CAWBG524 and CAWBG72, isolated in New Zealand. Each strain was previously reported to have a distinct paralytic shellfish toxin profile, a rare observation between strains within the same species. Sequencing of the saxitoxin biosynthetic clusters (sxt) from S. crispum CAWBG524 and S. crispum CAWBG72 revealed the largest sxt gene clusters described to date. The distinct toxin profiles of each strain were correlated to genetic differences in sxt tailoring enzymes, specifically the open-reading frame disruption of the N-21 sulfotransferase sxtN, adenylylsulfate kinase sxtO, and the C-11 dioxygenase sxtDIOX within S. crispum CAWBG524 via genetic insertions. Heterologous overexpression of SxtN allowed for the proposal of saxitoxin and 3′-phosphoadenosine 5′-phosphosulfate as substrate and cofactor, respectively, using florescence binding assays. Further, catalytic activity of SxtN was confirmed by the in vitro conversion of saxitoxin to the N-21 sulfonated analog gonyautoxin 5, making this the first known report to biochemically confirm the function of a sxt tailoring enzyme. Further, SxtN could not convert neosaxitoxin to its N-21 sulfonated analog gonyautoxin 6, indicating paralytic shellfish toxin biosynthesis most likely occurs along a predefined route. In this study, we identified key steps toward the biosynthetic conversation of saxitoxin to other paralytic shellfish toxins.]]> Wed 28 Feb 2024 15:21:29 AEDT ]]> Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:47731 g| ~ 0.25 to 0.50) with a range of risky behaviors. Bioinformatics analyses imply that genes near SNPs associated with general risk tolerance are highly expressed in brain tissues and point to a role for glutamatergic and GABAergic neurotransmission. We found no evidence of enrichment for genes previously hypothesized to relate to risk tolerance.]]> Wed 25 Jan 2023 14:39:42 AEDT ]]> Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:34987 Wed 24 Nov 2021 15:52:45 AEDT ]]> Trans-ethnic association study of blood pressure determinants in over 750,000 individuals https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:42468 Wed 24 Aug 2022 11:40:43 AEST ]]> Candidate gene association studies in stroke https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23230 Wed 24 Aug 2016 17:36:49 AEST ]]> Genome-wide association study identifies 74 loci associated with educational attainment https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:33716 Wed 12 Dec 2018 14:03:45 AEDT ]]> Genetic effects on the timing of parturition and links to fetal birth weight https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:52463 Wed 11 Oct 2023 15:07:44 AEDT ]]> Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13673 Wed 11 Apr 2018 15:24:43 AEST ]]> Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26195 Wed 11 Apr 2018 15:00:42 AEST ]]> Evolving robust gene regulatory networks https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27322 Wed 11 Apr 2018 14:52:52 AEST ]]> Selection of discriminative genes in microarray experiments using mathematical programming https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:9257 Wed 11 Apr 2018 14:26:22 AEST ]]> Genome-wide association and functional follow-up reveals new loci for kidney function https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15141 Wed 11 Apr 2018 13:54:12 AEST ]]> A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:9503 Wed 11 Apr 2018 13:47:54 AEST ]]> A "candidate-interactome" aggregate analysis of genome-wide association data in multiple sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13675 Wed 11 Apr 2018 13:42:55 AEST ]]> A coagulopathic dilemma: snakes or genes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:14541 Wed 11 Apr 2018 13:36:43 AEST ]]> P53 in human melanoma fails to regulate target genes associated with apoptosis and the cell cycle and may contribute to proliferation https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13895 Wed 11 Apr 2018 11:47:28 AEST ]]> RNA modulators of complex phenotypes in mammalian cells https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7723 Wed 11 Apr 2018 11:43:25 AEST ]]> A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13893 Wed 11 Apr 2018 10:36:53 AEST ]]> Characterisation of the legume SERK-NIK gene superfamily including splice variants: implications for development and defence https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15683 Wed 11 Apr 2018 10:03:20 AEST ]]> Regulation of expression of key genes in uterine myocytes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:30455 Wed 11 Apr 2018 09:37:03 AEST ]]> The discovery of novel biomarkers improves breast cancer intrinsic subtype prediction and reconciles the labels in the METABRIC data set https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:25143 Tue 27 Mar 2018 15:15:35 AEDT ]]> p53 isoform expression promotes a stemness phenotype and inhibits doxorubicin sensitivity in breast cancer. https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:54475 Tue 27 Feb 2024 14:56:31 AEDT ]]> Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27705 0.9 between SNPs). Although SNPs associated with deep intracerebral hemorrhage did not reach our significance threshold for association with lacunar ischemic stroke (lead SNP OR 1.10, 95% CI 1.03-1.18, p = 0.0073), and with white matter hyperintensity volume in symptomatic ischemic stroke patients (lead SNP OR 1.07, 95% CI 1.01-1.13, p = 0.016), the direction of association was the same. There was no convincing evidence of association with white matter hyperintensities in population-based studies or with non-small vessel disease cerebrovascular phenotypes. Conclusions: Our results indicate an association between common variation in the COL4A2 gene and symptomatic small vessel disease, particularly deep intracerebral hemorrhage. These findings merit replication studies, including in ethnic groups of non-European ancestry.]]> Tue 21 Jul 2020 09:43:56 AEST ]]> Rare germline copy number variants (CNVs) and breast cancer risk https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:52761 Tue 14 Nov 2023 15:30:24 AEDT ]]> A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:53025 Tue 14 Nov 2023 14:30:04 AEDT ]]> Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:46138 Tue 04 Apr 2023 18:59:19 AEST ]]> Pyrimidine-based inhibitors of dynamin I GTPase activity: competitive inhibition at the pleckstrin homology domain https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:32119 (CME) = 65.9 ± 7.7 to 3.7 ± 1.1 mM), which makes this series among the more potent inhibitors of dynamin and CME yet reported. In CME and growth inhibition cell-based assays, the data obtained was consistent with dynamin inhibition. CEREP ExpresS profiling identified off-target effects at the cholecystokinin, dopamine D₂, histamine H₁ and H₂, melanocortin, melatonin, muscarinic M₁ and M₃, neurokinin, opioid KOP and serotonin receptors.]]> Thu 03 May 2018 12:18:53 AEST ]]> The nutrigenomics of asthma: molecular mechanisms of airway neutrophilia following dietary antioxidant withdrawal https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7715 10% change in sputum neutrophils using Illumina Humanref-8 expression microarrays. There were 104 genes differentially expressed following the dietary change. Upregulated genes were involved in the innate immune response and included the innate immune receptors TLR2, IL1R2, CD93, the signaling molecules IRAK2, IRAK3, and neutrophil proteases MMP25 and CPD. Downregulated genes included those involved in endogenous antioxidant defenses (GSTA1, GSTA2) and protease inhibition (SLPI, SERPINB3). Altered expression of five genes (TLR2, IRAK2, IL1R2, C20orf114, and SERPINB3) was confirmed using real-time polymerase chain reaction (PCR). These observations suggest that depletion of dietary antioxidants in asthma may result in upregulation of genes involved in the innate immune response. A diet low in antioxidants may be contributing to the development of neutrophilic asthma through activation of the innate immune response.]]> Sat 24 Mar 2018 08:41:39 AEDT ]]> Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:8287 Sat 24 Mar 2018 08:40:29 AEDT ]]> Application of serial analysis of gene expression to the study of human genetic disease https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7340 Sat 24 Mar 2018 08:35:13 AEDT ]]> Gene profiling in the amygdala in schizophrenia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:3035 Sat 24 Mar 2018 08:30:00 AEDT ]]> Microwaves for chromogenic in situ hybridization https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15316 Sat 24 Mar 2018 08:26:36 AEDT ]]> The role of 5-HTT LPR and GNβ3 825C>T polymorphisms and gene–environment interactions in Irritable Bowel Syndrome (IBS) https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:12767 T polymorphisms in IBS, and interactions between 5-HTT LPR with life events have been reported in the psychiatric literature, but gene–environment studies in IBS are lacking. Aims: The purpose of this study was to assess the association of two polymorphisms with IBS and age of onset, and whether there are gene–environment interactions with IBS. Methods: Outpatients with IBS and controls completed a validated questionnaire and provided blood for DNA. Comparisons of genotype/allele frequencies between cases and controls were performed with logistic regression. Linear regression was used to evaluate the association between the variants and age of onset. Environmental variables tested included abuse, parental alcohol abuse, parental psychiatric disorders, and gastrointestinal infections. Results: Genotyping was performed in 385 cases and 262 controls with median age of 50 years (range, 18.0–70.0) and 498 (77 %) females. The IBS subtype distribution among cases was: 102 (26 %) D-IBS, 40 (10 %) C-IBS, 125 (32 %) M-IBS, 118 (31 %) other. No association was observed between IBS or age of onset and both variants. Significant interactions were observed between GI infection and the GNβ3 825T allele. For those reporting gastrointestinal infection, the OR for IBS was 3.9 (95 % CI 1.2–12.7) whereas the OR was 0.86 (95 % CI 0.65–1.13) for those without prior infection. Conclusions: There was a significant interaction between the GNβ3 polymorphism and infection in the development of IBS, suggesting that its etiology is the result of a combination of specific genetic and environmental risk factors.]]> Sat 24 Mar 2018 08:18:21 AEDT ]]> Preliminary evidence of an interaction between the FOXP2 gene and childhood emotional abuse predicting likelihood of auditory verbal hallucinations in schizophrenia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20953 Sat 24 Mar 2018 08:06:07 AEDT ]]> Meta-analysis of hypercoagulability genetic polymorphisms in perthes disease https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:18435 Sat 24 Mar 2018 07:59:46 AEDT ]]> A comparison of a single genetic factor, two stress factors, and one psychosocial coping factor as predictors of depression in an Australian community sample https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19241 Sat 24 Mar 2018 07:54:56 AEDT ]]> Genome-wide association analysis identifies six new loci associated with forced vital capacity https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:21233 P < 5 × 10−8) with FVC in or near EFEMP1, BMP6, MIR129-2–HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.]]> Sat 24 Mar 2018 07:53:01 AEDT ]]> Genome-wide analysis of blood pressure variability and ischemic stroke https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20171 Sat 24 Mar 2018 07:51:43 AEDT ]]> Electrochemical detection of short DNA sequences related to the Escherichia coli pathogen using a zirconia-modified screen-printed DNA biosensor https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:5642 Sat 24 Mar 2018 07:44:01 AEDT ]]> Genes related with Alzheimer's disease: a comparison of evolutionary search, statistical and integer programming approaches https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:455 Sat 24 Mar 2018 07:42:21 AEDT ]]> Association of forced vital capacity with the developmental gene NCOR2 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:29806 p<0.002; 0.05/25), with a nominal p-value considered as suggestive evidence. For SNPs with evidence of replication, effects on the expression levels of nearby genes in lung tissue were tested in 1,111 lung samples (Lung eQTL consortium), with further functional investigation performed using public epigenomic profiling data (ENCODE). Results: NCOR2-rs12708369 showed strong replication in children (p = 0.0002), with replication unavailable in adults due to low imputation quality. This intronic variant is in a strong transcriptional enhancer element in lung fibroblasts, but its eQTL effects could not be tested due to low imputation quality in the eQTL dataset. SERPINE2-rs6754561 replicated at nominal level in both adults (p = 0.036) and children (p = 0.045), while WNT16-rs2707469 replicated at nominal level only in adults (p = 0.026). The eQTL analyses showed association of WNT16-rs2707469 with expression levels of the nearby gene CPED1.We found no statistically significant eQTL effects for SERPINE2-rs6754561. Conclusions: We have identified a new gene, NCOR2, in the retinoic acid signalling pathway pointing to a role of vitamin A metabolism in the regulation of FVC. Our findings also support SERPINE2, a COPD gene with weak previous evidence of association with FVC, and suggest WNT16 as a further promising candidate.]]> Sat 24 Mar 2018 07:30:34 AEDT ]]> Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26556 Sat 24 Mar 2018 07:26:14 AEDT ]]> Smchd1 is a maternal effect gene required for genomic imprinting https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:42368 Mon 22 Aug 2022 14:08:45 AEST ]]> Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:50972 Mon 14 Aug 2023 15:19:39 AEST ]]> Mapping genomic loci implicates genes and synaptic biology in schizophrenia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:49672 Fri 26 May 2023 15:35:47 AEST ]]> A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:46943 METTL15). The variant was nominally associated with only the European subgroup analysis but had a consistent direction of effect in other ethnicities. We then utilized trans-ancestral Bayesian analysis to narrow down the location of the probable causal variant at each genome-wide significant signal. Of all the fine-mapped loci, we were able to narrow down the causative variant at four known loci to fewer than 10 single nucleotide polymorphisms (SNPs) (FAIM2, GNPDA2, MC4R and SEC16B loci). In conclusion, an ethnically diverse setting has enabled us to both identify an additional pediatric obesity locus and further fine-map existing loci.]]> Fri 09 Dec 2022 14:01:32 AEDT ]]> Transcriptomics identifies blunted immunomodulatory effects of vitamin D in people with multiple sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:54701 Fri 08 Mar 2024 12:07:53 AEDT ]]>