https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:34987 Wed 24 Nov 2021 15:52:45 AEDT ]]> Derivation of poly-methylomic profile scores for schizophrenia https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:39125 p-value thresholds by summing methylation beta-values weighted by individual-CpG effect sizes from the meta-analysis of a previously published schizophrenia EWAS (comprising three separate cohorts with 675 [353 SZ and 322 HC] discovery cohort participants, 847 [414 SZ and 433 HC] replication cohort participants, and 96 monozygotic twin-pairs discordant for SZ). All SZ PMPSs were elevated in SZ participants relative to HCs, with the score calculated at a p-value threshold of 1 x 10−5 accounting for the greatest amount of variance. All PMPSs were elevated in SZ relative to BD and none of the PMPSs were increased in BD, or in a combined cohort of BD and SZ cases, relative to HCs. PMPSs were also not associated with positive or negative symptom severity. That this SZ-derived PMPSs was elevated in SZ, but not BD, suggests that epigenome-wide methylation patterns may represent distinct pathophysiology that is yet to be elucidated.]]> Wed 01 May 2024 12:58:28 AEST ]]> Increased power by harmonizing structural MRI site differences with the ComBat batch adjustment method in ENIGMA https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:40024 Thu 21 Jul 2022 09:47:00 AEST ]]> Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:21459 ST8SIA2, C15orf32, and FAM174B. Alpha-2,8-Sialyltransferase 2 (ST8SIA2) is expressed in the developing brain and appears to play an important role in neuronal migration, axon guidance and synaptic plasticity. It has recently been implicated in a genome wide association study as a potential factor underlying autism, and has also been implicated in the pathogenesis of bipolar disorder and schizophrenia. This case provides supportive evidence that ST8SIA2 haploinsufficiency may play a role in neurobehavioral phenotypes.]]> Sat 24 Mar 2018 08:05:45 AEDT ]]> White matter disruptions in schizophrenia are spatially widespread and topologically converge on brain network hubs https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30942 Sat 24 Mar 2018 07:33:42 AEDT ]]>