Browsing Centre for Genomics and Child Health by Author "O'Brien, NL"
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Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data
Fiorentino, A; O'Brien, NL; Locke, DP; McQuillin, A; Jarram, A; Anjorin, A; Kandaswamy, R; Curtis, D; Blizard, RA; Gurling, HMD (2014-09) -
Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.
Murray, A; Gough, G; Cindrić, A; Vučković, F; Koschut, D; Borelli, V; Petrović, DJ; Bekavac, A; Plećaš, A; Hribljan, V (2023-08)BACKGROUND: People with Down syndrome (DS) show clinical signs of accelerated ageing. Causative mechanisms remain unknown and hypotheses range from the (essentially untreatable) amplified-chromosomal-instability explanation, ... -
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain
Alic, I; Goh, PA; Murray, A; Portelius, E; Gkanatsiou, E; Gough, G; Mok, KY; Koschut, D; Brunmeir, R; Yeap, YJ (Nature Research, 2020-07-10)A population of more than six million people worldwide at high risk of Alzheimer’s disease (AD) are those with Down Syndrome (DS, caused by trisomy 21 (T21)), 70% of whom develop dementia during lifetime, caused by an ... -
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain (Jul, 10.1038/S41380-020-0806-5, 2020)
Alic, I; Goh, PA; Murray, A; Portelius, E; Gkanatsiou, E; Gough, G; Mok, KY; Koschut, D; Brunmeir, R; Yeap, YJ (2021)