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Page 1
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H; Swedish Schizophrenia Study; INTERVAL Study; DDD Study; UK10 K Consortium; Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC. Singh T, et al. Among authors: mcquillin a. Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14. Nat Neurosci. 2016. PMID: 26974950 Free PMC article.
Genome scan of pedigrees multiply affected with bipolar disorder provides further support for the presence of a susceptibility locus on chromosome 12q23-q24, and suggests the presence of additional loci on 1p and 1q.
Curtis D, Kalsi G, Brynjolfsson J, McInnis M, O'Neill J, Smyth C, Moloney E, Murphy P, McQuillin A, Petursson H, Gurling H. Curtis D, et al. Among authors: mcquillin a. Psychiatr Genet. 2003 Jun;13(2):77-84. doi: 10.1097/01.ypg.0000056684.89558.d2. Psychiatr Genet. 2003. PMID: 12782963
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.
Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI Jr, Craddock N, DePaulo JR, Baron M, Gershon ES, Ekholm J, Cichon S, Turecki G, Claes S, Kelsoe JR, Schofield PR, Badenhop RF, Morissette J, Coon H, Blackwood D, McInnes LA, Foroud T, Edenberg HJ, Reich T, Rice JP, Goate A, McInnis MG, McMahon FJ, Badner JA, Goldin LR, Bennett P, Willour VL, Zandi PP, Liu J, Gilliam C, Juo SH, Berrettini WH, Yoshikawa T, Peltonen L, Lönnqvist J, Nöthen MM, Schumacher J, Windemuth C, Rietschel M, Propping P, Maier W, Alda M, Grof P, Rouleau GA, Del-Favero J, Van Broeckhoven C, Mendlewicz J, Adolfsson R, Spence MA, Luebbert H, Adams LJ, Donald JA, Mitchell PB, Barden N, Shink E, Byerley W, Muir W, Visscher PM, Macgregor S, Gurling H, Kalsi G, McQuillin A, Escamilla MA, Reus VI, Leon P, Freimer NB, Ewald H, Kruse TA, Mors O, Radhakrishna U, Blouin JL, Antonarakis SE, Akarsu N. Segurado R, et al. Among authors: mcquillin a. Am J Hum Genet. 2003 Jul;73(1):49-62. doi: 10.1086/376547. Epub 2003 Jun 11. Am J Hum Genet. 2003. PMID: 12802785 Free PMC article.
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia.
Lewis CM, Levinson DF, Wise LH, DeLisi LE, Straub RE, Hovatta I, Williams NM, Schwab SG, Pulver AE, Faraone SV, Brzustowicz LM, Kaufmann CA, Garver DL, Gurling HM, Lindholm E, Coon H, Moises HW, Byerley W, Shaw SH, Mesen A, Sherrington R, O'Neill FA, Walsh D, Kendler KS, Ekelund J, Paunio T, Lönnqvist J, Peltonen L, O'Donovan MC, Owen MJ, Wildenauer DB, Maier W, Nestadt G, Blouin JL, Antonarakis SE, Mowry BJ, Silverman JM, Crowe RR, Cloninger CR, Tsuang MT, Malaspina D, Harkavy-Friedman JM, Svrakic DM, Bassett AS, Holcomb J, Kalsi G, McQuillin A, Brynjolfson J, Sigmundsson T, Petursson H, Jazin E, Zoëga T, Helgason T. Lewis CM, et al. Among authors: mcquillin a. Am J Hum Genet. 2003 Jul;73(1):34-48. doi: 10.1086/376549. Epub 2003 Jun 11. Am J Hum Genet. 2003. PMID: 12802786 Free PMC article.
Failure to confirm genetic association between schizophrenia and markers on chromosome 1q23.3 in the region of the gene encoding the regulator of G-protein signaling 4 protein (RGS4).
Rizig MA, McQuillin A, Puri V, Choudhury K, Datta S, Thirumalai S, Lawrence J, Quested D, Pimm J, Bass N, Lamb G, Moorey H, Badacsonyi A, Kelly K, Morgan J, Punukollu B, Kandasami G, Curtis D, Gurling H. Rizig MA, et al. Among authors: mcquillin a. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):296-300. doi: 10.1002/ajmg.b.30288. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16508931
Genetic association and brain morphology studies and the chromosome 8p22 pericentriolar material 1 (PCM1) gene in susceptibility to schizophrenia.
Gurling HM, Critchley H, Datta SR, McQuillin A, Blaveri E, Thirumalai S, Pimm J, Krasucki R, Kalsi G, Quested D, Lawrence J, Bass N, Choudhury K, Puri V, O'Daly O, Curtis D, Blackwood D, Muir W, Malhotra AK, Buchanan RW, Good CD, Frackowiak RS, Dolan RJ. Gurling HM, et al. Among authors: mcquillin a. Arch Gen Psychiatry. 2006 Aug;63(8):844-54. doi: 10.1001/archpsyc.63.8.844. Arch Gen Psychiatry. 2006. PMID: 16894060 Free PMC article.
Fine mapping by genetic association implicates the chromosome 1q23.3 gene UHMK1, encoding a serine/threonine protein kinase, as a novel schizophrenia susceptibility gene.
Puri V, McQuillin A, Choudhury K, Datta S, Pimm J, Thirumalai S, Krasucki R, Lawrence J, Quested D, Bass N, Moorey H, Morgan J, Punukollu B, Kandasami G, Curtis D, Gurling H. Puri V, et al. Among authors: mcquillin a. Biol Psychiatry. 2007 Apr 1;61(7):873-9. doi: 10.1016/j.biopsych.2006.06.014. Epub 2006 Sep 15. Biol Psychiatry. 2007. PMID: 16978587
242 results