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An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Morris DW, Pearson RD, Cormican P, Kenny EM, O'Dushlaine CT, Perreault LP, Giannoulatou E, Tropea D, Maher BS, Wormley B, Kelleher E, Fahey C, Molinos I, Bellini S, Pirinen M, Strange A, Freeman C, Thiselton DL, Elves RL, Regan R, Ennis S, Dinan TG, McDonald C, Murphy KC, O'Callaghan E, Waddington JL, Walsh D, O'Donovan M, Grozeva D, Craddock N, Stone J, Scolnick E, Purcell S, Sklar P, Coe B, Eichler EE, Ophoff R, Buizer J, Szatkiewicz J, Hultman C, Sullivan P, Gurling H, Mcquillin A, St Clair D, Rees E, Kirov G, Walters J, Blackwood D, Johnstone M, Donohoe G; International Schizophrenia Consortium, SGENE+ Consortium; O'Neill FA; Wellcome Trust Case Control Consortium 2; Kendler KS, Gill M, Riley BP, Spencer CC, Corvin A. Morris DW, et al. Hum Mol Genet. 2014 Jun 15;23(12):3316-26. doi: 10.1093/hmg/ddu025. Epub 2014 Jan 28. Hum Mol Genet. 2014. PMID: 24474471 Free PMC article.
DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness.
Malavasi ELV, Economides KD, Grünewald E, Makedonopoulou P, Gautier P, Mackie S, Murphy LC, Murdoch H, Crummie D, Ogawa F, McCartney DL, O'Sullivan ST, Burr K, Torrance HS, Phillips J, Bonneau M, Anderson SM, Perry P, Pearson M, Constantinides C, Davidson-Smith H, Kabiri M, Duff B, Johnstone M, Polites HG, Lawrie SM, Blackwood DH, Semple CA, Evans KL, Didier M, Chandran S, McIntosh AM, Price DJ, Houslay MD, Porteous DJ, Millar JK. Malavasi ELV, et al. Transl Psychiatry. 2018 Sep 6;8(1):184. doi: 10.1038/s41398-018-0228-1. Transl Psychiatry. 2018. PMID: 30190480 Free PMC article.
Association of Whole-Genome and NETRIN1 Signaling Pathway-Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank.
Barbu MC, Zeng Y, Shen X, Cox SR, Clarke TK, Gibson J, Adams MJ, Johnstone M, Haley CS, Lawrie SM, Deary IJ; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; 23andMe Research Team; McIntosh AM, Whalley HC. Barbu MC, et al. Biol Psychiatry Cogn Neurosci Neuroimaging. 2019 Jan;4(1):91-100. doi: 10.1016/j.bpsc.2018.07.006. Epub 2018 Jul 31. Biol Psychiatry Cogn Neurosci Neuroimaging. 2019. PMID: 30197049 Free PMC article.
Reversal of proliferation deficits caused by chromosome 16p13.11 microduplication through targeting NFκB signaling: an integrated study of patient-derived neuronal precursor cells, cerebral organoids and in vivo brain imaging.
Johnstone M, Vasistha NA, Barbu MC, Dando O, Burr K, Christopher E, Glen S, Robert C, Fetit R, Macleod KG, Livesey MR, Clair DS, Blackwood DHR, Millar K, Carragher NO, Hardingham GE, Wyllie DJA, Johnstone EC, Whalley HC, McIntosh AM, Lawrie SM, Chandran S. Johnstone M, et al. Mol Psychiatry. 2019 Feb;24(2):294-311. doi: 10.1038/s41380-018-0292-1. Epub 2018 Nov 6. Mol Psychiatry. 2019. PMID: 30401811 Free PMC article.