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Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression.

Lintas C, Sacco R, Garbett K, Mirnics K, Militerni R, Bravaccio C, Curatolo P, Manzi B, Schneider C, Melmed R, Elia M, Pascucci T, Puglisi-Allegra S, Reichelt KL, Persico AM.

Mol Psychiatry. 2009 Jul;14(7):705-18. doi: 10.1038/mp.2008.21. Epub 2008 Mar 4.


Protein kinase C-beta 1 gene variants are not associated with autism in the Irish population.

Yang MS, Cochrane L, Conroy J, Hawi Z, Fitzgerald M, Gallagher L, Gill M.

Psychiatr Genet. 2007 Feb;17(1):39-41.


Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism.

Philippi A, Roschmann E, Tores F, Lindenbaum P, Benajou A, Germain-Leclerc L, Marcaillou C, Fontaine K, Vanpeene M, Roy S, Maillard S, Decaulne V, Saraiva JP, Brooks P, Rousseau F, Hager J.

Mol Psychiatry. 2005 Oct;10(10):950-60.


Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism.

Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Sasaki T, Kato N.

Int J Neuropsychopharmacol. 2009 Feb;12(1):1-10. doi: 10.1017/S1461145708009127. Epub 2008 Jul 30. Erratum in: Int J Neuropsychopharmacol. 2009 Apr;12(3):439. Sasaki, Tsukasa [added].


Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population.

Yang P, Shu BC, Hallmayer JF, Lung FW.

Neuropsychobiology. 2010;62(2):104-15. doi: 10.1159/000315441. Epub 2010 Jun 3.


The GLO1 C332 (Ala111) allele confers autism vulnerability: family-based genetic association and functional correlates.

Gabriele S, Lombardi F, Sacco R, Napolioni V, Altieri L, Tirindelli MC, Gregorj C, Bravaccio C, Rousseau F, Persico AM.

J Psychiatr Res. 2014 Dec;59:108-16. doi: 10.1016/j.jpsychires.2014.07.021. Epub 2014 Aug 8.


Genetic variants of the protein kinase C-beta 1 gene and development of end-stage renal disease in patients with type 2 diabetes.

Ma RC, Tam CH, Wang Y, Luk AO, Hu C, Yang X, Lam V, Chan AW, Ho JS, Chow CC, Tong PC, Jia W, Ng MC, So WY, Chan JC.

JAMA. 2010 Aug 25;304(8):881-9. doi: 10.1001/jama.2010.1191.


Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

Conciatori M, Stodgell CJ, Hyman SL, O'Bara M, Militerni R, Bravaccio C, Trillo S, Montecchi F, Schneider C, Melmed R, Elia M, Crawford L, Spence SJ, Muscarella L, Guarnieri V, D'Agruma L, Quattrone A, Zelante L, Rabinowitz D, Pascucci T, Puglisi-Allegra S, Reichelt KL, Rodier PM, Persico AM.

Biol Psychiatry. 2004 Feb 15;55(4):413-9.


Identification of a common risk haplotype for diabetic nephropathy at the protein kinase C-beta1 (PRKCB1) gene locus.

Araki S, Ng DP, Krolewski B, Wyrwicz L, Rogus JJ, Canani L, Makita Y, Haneda M, Warram JH, Krolewski AS.

J Am Soc Nephrol. 2003 Aug;14(8):2015-24.


Genome-wide association study of autistic-like traits in a general population study of young adults.

Jones RM, Cadby G, Melton PE, Abraham LJ, Whitehouse AJ, Moses EK.

Front Hum Neurosci. 2013 Oct 11;7:658. doi: 10.3389/fnhum.2013.00658. eCollection 2013.


Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1.

Palmieri L, Papaleo V, Porcelli V, Scarcia P, Gaita L, Sacco R, Hager J, Rousseau F, Curatolo P, Manzi B, Militerni R, Bravaccio C, Trillo S, Schneider C, Melmed R, Elia M, Lenti C, Saccani M, Pascucci T, Puglisi-Allegra S, Reichelt KL, Persico AM.

Mol Psychiatry. 2010 Jan;15(1):38-52. doi: 10.1038/mp.2008.63. Epub 2008 Jul 8.


Association between autism and variants in the wingless-type MMTV integration site family member 2 ( WNT2) gene.

Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Jinde S, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Kato N.

Int J Neuropsychopharmacol. 2010 May;13(4):443-9. doi: 10.1017/S1461145709990903. Epub 2009 Nov 9.


A genotype resource for postmortem brain samples from the Autism Tissue Program.

Wintle RF, Lionel AC, Hu P, Ginsberg SD, Pinto D, Thiruvahindrapduram B, Wei J, Marshall CR, Pickett J, Cook EH, Scherer SW.

Autism Res. 2011 Apr;4(2):89-97. doi: 10.1002/aur.173. Epub 2011 Jan 19. Erratum in: Autism Res. 2011 Aug;4(4):314.


Down-regulation of PRKCB1 expression in Han Chinese patients with subsyndromal symptomatic depression.

Guo X, Li Z, Zhang C, Yi Z, Li H, Cao L, Yuan C, Hong W, Wu Z, Peng D, Chen J, Xia W, Zhao G, Wang F, Yu S, Cui D, Xu Y, Golam CM, Smith AK, Wang T, Fang Y.

J Psychiatr Res. 2015 Oct;69:1-6. doi: 10.1016/j.jpsychires.2015.07.011. Epub 2015 Jul 17.


Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism.

Correia CT, Coutinho AM, Sequeira AF, Sousa IG, Lourenço Venda L, Almeida JP, Abreu RL, Lobo C, Miguel TS, Conroy J, Cochrane L, Gallagher L, Gill M, Ennis S, Oliveira GG, Vicente AM.

Genes Brain Behav. 2010 Oct;9(7):841-8. doi: 10.1111/j.1601-183X.2010.00627.x. Epub 2010 Aug 19.


Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition.

Lerer E, Levi S, Salomon S, Darvasi A, Yirmiya N, Ebstein RP.

Mol Psychiatry. 2008 Oct;13(10):980-8. Epub 2007 Sep 25.


Mutation analysis of the NRXN1 gene in a Chinese autism cohort.

Liu Y, Hu Z, Xun G, Peng Y, Lu L, Xu X, Xiong Z, Xia L, Liu D, Li W, Zhao J, Xia K.

J Psychiatr Res. 2012 May;46(5):630-4. doi: 10.1016/j.jpsychires.2011.10.015. Epub 2012 Mar 9.


Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.

Chow ML, Pramparo T, Winn ME, Barnes CC, Li HR, Weiss L, Fan JB, Murray S, April C, Belinson H, Fu XD, Wynshaw-Boris A, Schork NJ, Courchesne E.

PLoS Genet. 2012;8(3):e1002592. doi: 10.1371/journal.pgen.1002592. Epub 2012 Mar 22.


A Family-Based Association Study of CYP11A1 and CYP11B1 Gene Polymorphisms With Autism in Chinese Trios.

Deng HZ, You C, Xing Y, Chen KY, Zou XB.

J Child Neurol. 2016 May;31(6):733-7. doi: 10.1177/0883073815620672. Epub 2015 Dec 21.


Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Hussman JP, Gilbert JR, Pericak-Vance MA.

Am J Hum Genet. 2005 Sep;77(3):377-88. Epub 2005 Jul 15.

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