https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 The role of the retinoids in schizophrenia: genomic and clinical perspectives https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:40464 Wed 27 Jul 2022 13:10:26 AEST ]]> A primer on the use of machine learning to distil knowledge from data in biological psychiatry https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:55726 Wed 19 Jun 2024 09:40:12 AEST ]]> Cell type-specific manifestations of cortical thickness heterogeneity in schizophrenia https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47091 Wed 14 Dec 2022 09:37:26 AEDT ]]> Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:29981 0.05). Overlap (P<0.0001) of differentially expressed genes in Hfe -/- × Tfr2 mut brain with human gene co-expression networks suggests iron loading influences expression of NBIA-related and myelin-related genes co-expressed in normal human basal ganglia. There was overlap (P<0.0001) of genes differentially expressed in Hfe -/- × Tfr2 mut brain and post-mortem NBIA basal ganglia. Hfe -/- × Tfr2 mut mice were hyperactive (P<0.0112) without apparent cognitive impairment by IntelliCage testing (P>0.05). These results implicate myelin-related systems involved in NBIA neuropathogenesis in early responses to iron loading. This may contribute to behavioral symptoms in NBIA and hemochromatosis and is relevant to patients with abnormal iron status and psychiatric disorders involving myelin abnormalities or resistant to conventional treatments.]]> Wed 11 Apr 2018 13:26:01 AEST ]]> Schizophrenia is associated with an increase in cortical microRNA biogenesis https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:11189 Wed 11 Apr 2018 10:57:05 AEST ]]> Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949) https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:27386 -9, MIR2113; rs17522122, P=2.55 x 10-8, AKAP6; rs10119, P=5.67 x 10-9, APOE/TOMM40). We report one gene-based significant association with the HMGN1 gene located on chromosome 21 (P=1 x 10-6). These genes have previously been associated with neuropsychiatric phenotypes. Meta-analysis results are consistent with a polygenic model of inheritance. To estimate SNP-based heritability, the genome-wide complex trait analysis procedure was applied to two large cohorts, the Atherosclerosis Risk in Communities Study (N=6617) and the Health and Retirement Study (N=5976). The proportion of phenotypic variation accounted for by all genotyped common SNPs was 29% (s.e.=5%) and 28% (s.e.=7%), respectively. Using polygenic prediction analysis, ~1.2% of the variance in general cognitive function was predicted in the Generation Scotland cohort (N=5487; P=1.5 x 10-17). In hypothesis-driven tests, there was significant association between general cognitive function and four genes previously associated with Alzheimer's disease: TOMM40, APOE, ABCG1 and MEF2C.]]> Wed 11 Apr 2018 09:51:21 AEST ]]> Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:19349 Wed 11 Apr 2018 09:28:53 AEST ]]> Widespread white matter microstructural differences in schizophrenia across 4322 individuals: results from the ENIGMA Schizophrenia DTI Working Group https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:34962 Tue 03 Sep 2019 18:22:33 AEST ]]> A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:34908 Katnal1. We show that mutants express behavioural deficits including in circadian rhythms, sleep, anxiety and learning/memory. Furthermore, in the brains of Katnal1 mutant mice we reveal numerous morphological abnormalities and defects in neuronal migration and morphology. Furthermore we demonstrate defects in the motile cilia of the ventricular ependymal cells of mutants, suggesting a role for Katnal1 in the development of ciliary function. We believe the data we present here are the first to associate KATNAL1 with such phenotypes, demonstrating that the protein plays keys roles in a number of processes integral to the development of neuronal function and behaviour.]]> Tue 03 Sep 2019 17:58:21 AEST ]]> Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-Related Neurodevelopmental Condition https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:50492 Thu 27 Jul 2023 09:53:32 AEST ]]> Elevated plasma ferritin in elderly individuals with high neocortical amyloid-β load https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:36161 Thu 20 Feb 2020 14:45:19 AEDT ]]> Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38442 Thu 18 Nov 2021 10:15:18 AEDT ]]> GWAS for executive function and processing speed suggests involvement of the CADM2 gene https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:23883 P-value=3.12 x 10-8) and in the joint discovery and replication meta-analysis (P-value=3.28 x 10-9 after adjustment for age, gender and education) in an intron of the gene cell adhesion molecule 2 (CADM2) for performance on the LDST/DSST. Rs17518584 is located about 170 kb upstream of the transcription start site of the major transcript for the CADM2 gene, but is within an intron of a variant transcript that includes an alternative first exon. The variant is associated with expression of CADM2 in the cingulate cortex (P-value=4 x 10-4). The protein encoded by CADM2 is involved in glutamate signaling (P-value=7.22 x 10-15), gamma-aminobutyric acid (GABA) transport (P-value=1.36 x 10-11) and neuron cell-cell adhesion (P-value=1.48 x 10-13). Our findings suggest that genetic variation in the CADM2 gene is associated with individual differences in information processing speed.]]> Thu 13 Jan 2022 10:29:45 AEDT ]]> MiR-137: an important player in neural development and neoplastic transformation https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:33259 Thu 03 Feb 2022 12:21:07 AEDT ]]> The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:19058 Sat 24 Mar 2018 08:05:26 AEDT ]]> CCDC22: a novel candidate gene for syndromic X-linked intellectual disability https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:21646 1-3 yet a large proportion of XLID cases remain unexplained, as each of the XLID genes identified so far only accounts for a small fraction (<1%) of affected individuals. Given that about one third of mutations affect gene expression levels,4 we reasoned that transcriptome profiling of lymphoblast cell lines from XLID patients may highlight genes harboring disease-causing mutations and may be an efficient follow-up method for rare sequence variants of unknown functional significance.]]> Sat 24 Mar 2018 07:52:23 AEDT ]]> Genome-wide supported variant MIR137 and severe negative symptoms predict membership of an impaired cognitive subtype of schizophrenia https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:20141 Sat 24 Mar 2018 07:51:38 AEDT ]]> Increased inflammatory markers identified in the dorsolateral prefrontal cortex of individuals with schizophrenia https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28617 Sat 24 Mar 2018 07:38:56 AEDT ]]> A polygenic resilience score moderates the genetic risk for schizophrenia https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38229 Mon 16 Aug 2021 17:39:39 AEST ]]> Polygenic disruption of retinoid signalling in schizophrenia and a severe cognitive deficit subtype https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:48305 Mon 01 May 2023 15:23:00 AEST ]]> Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:39019 Fri 22 Apr 2022 09:10:54 AEST ]]> Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47296 Fri 13 Jan 2023 10:45:52 AEDT ]]> Brain ageing in schizophrenia: evidence from 26 international cohorts via the ENIGMA Schizophrenia consortium https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:51559 Fri 08 Sep 2023 16:29:26 AEST ]]> Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:41596 Fri 05 Aug 2022 14:58:18 AEST ]]>