American Psychiatric Association: Task Force on DSM-IV: Diagnostic and statistical manual of mental disorders: DSM-IV-TR. 2000, Washington, DC: American Psychiatric Association, 4
Google Scholar
Moldin SO, Rubenstein JLR: Understanding autism: from basic neuroscience to treatment. 2006, CRC/Taylor & Francis: Boca Raton
Google Scholar
Volkmar F, Chawarska K, Klin A: Autism in infancy and early childhood. Annu Rev Psychol. 2005, 56: 315-336. 10.1146/annurev.psych.56.091103.070159.
PubMed
Google Scholar
Volkmar FR, Klin A, Siegel B, Szatmari P, Lord C, Campbell M, Freeman BJ, Cicchetti DV, Rutter M, Kline W: Field trial for autistic disorder in DSM-IV. Am J Psychiatry. 1994, 151: 1361-1367.
CAS
PubMed
Google Scholar
Baio J: Prevalence of Autism Spectrum Disorders - Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008. Centers for Disease Control and Prevention Morbidity and Mortality Weekly Report. 2012, 61: 3-
Google Scholar
Kim YS, Leventhal BL, Koh Y, Fombonne E, Laska E, Lim E, Cheon K, Kim S, Kim Y, Lee H, Song D, Grinker RR: Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry. 2011, 168: 904-912. 10.1176/appi.ajp.2011.10101532.
PubMed
Google Scholar
Mattila M, Kielinen M, Linna S, Jussila K, Ebeling H, Bloigu R, Joseph RM, Moilanen I: Autism spectrum disorders according to DSM-IV-TR and comparison with DSM-5 draft criteria: an epidemiological study. J Am Acad Child Adolesc Psychiatry. 2011, 50: 583-592. 10.1016/j.jaac.2011.04.001.
PubMed
Google Scholar
Baron-Cohen S, Knickmeyer RC, Belmonte MK: Sex differences in the brain: implications for explaining autism. Science. 2005, 310: 819-823. 10.1126/science.1115455.
CAS
PubMed
Google Scholar
Auyeung B, Baron-Cohen S, Ashwin E, Knickmeyer R, Taylor K, Hackett G: Fetal testosterone and autistic traits. Br J Psychol. 2009, 100 (Pt 1): 1-22.
PubMed
Google Scholar
Auyeung B, Taylor K, Hackett G, Baron-Cohen S: Foetal testosterone and autistic traits in 18 to 24-month-old children. Mol Autism. 2010, 1: 11-10.1186/2040-2392-1-11.
PubMed Central
PubMed
Google Scholar
Nguyen A, Rauch TA, Pfeifer GP, Hu VW: Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. FASEB J. 2010, 24: 3036-3051. 10.1096/fj.10-154484.
PubMed Central
CAS
PubMed
Google Scholar
Sarachana T, Xu M, Wu RC, Hu VW: Sex hormones in autism: androgens and estrogens differentially and reciprocally regulate RORA, a novel candidate gene for autism. PLoS One. 2011, 6: e17116-10.1371/journal.pone.0017116.
PubMed Central
CAS
PubMed
Google Scholar
Hu VW, Sarachana T, Kim KS, Nguyen A, Kulkarni S, Steinberg ME, Luu T, Lai Y, Lee NH: Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism. Autism Res. 2009, 2: 78-97. 10.1002/aur.73.
PubMed Central
PubMed
Google Scholar
Boukhtouche F, Janmaat S, Vodjdani G, Gautheron V, Mallet J, Dusart I, Mariani J: Retinoid-related orphan receptor alpha controls the early steps of Purkinje cell dendritic differentiation. J Neurosci. 2006, 26: 1531-1538. 10.1523/JNEUROSCI.4636-05.2006.
CAS
PubMed
Google Scholar
Hadj-Sahraoui N, Frederic F, Zanjani H, Delhaye-Bouchaud N, Herrup K, Mariani J: Progressive atrophy of cerebellar Purkinje cell dendrites during aging of the heterozygous staggerer mouse (Rora(+/sg)). Brain Res Dev Brain Res. 2001, 126: 201-209. 10.1016/S0165-3806(01)00095-5.
CAS
PubMed
Google Scholar
Gold DA, Gent PM, Hamilton BA: ROR alpha in genetic control of cerebellum development: 50 staggering years. Brain Res. 2007, 1140: 19-25.
CAS
PubMed
Google Scholar
Harding HP, Atkins GB, Jaffe AB, Seo WJ, Lazar MA: Transcriptional activation and repression by RORalpha, an orphan nuclear receptor required for cerebellar development. Mol Endocrinol. 1997, 11: 1737-1746. 10.1210/me.11.11.1737.
CAS
PubMed
Google Scholar
Boukhtouche F, Vodjdani G, Jarvis CI, Bakouche J, Staels B, Mallet J, Mariani J, Lemaigre-Dubreuil Y, Brugg B: Human retinoic acid receptor-related orphan receptor alpha1 overexpression protects neurones against oxidative stress-induced apoptosis. J Neurochem. 2006, 96: 1778-1789. 10.1111/j.1471-4159.2006.03708.x.
CAS
PubMed
Google Scholar
Delerive P, Monte D, Dubois G, Trottein F, Fruchart-Najib J, Mariani J, Fruchart JC, Staels B: The orphan nuclear receptor ROR alpha is a negative regulator of the inflammatory response. EMBO Rep. 2001, 2: 42-48. 10.1093/embo-reports/kve007.
PubMed Central
CAS
PubMed
Google Scholar
Sato TK, Panda S, Miraglia LJ, Reyes TM, Rudic RD, McNamara P, Naik KA, FitzGerald GA, Kay SA, Hogenesch JB: A functional genomics strategy reveals Rora as a component of the mammalian circadian clock. Neuron. 2004, 43: 527-537. 10.1016/j.neuron.2004.07.018.
CAS
PubMed
Google Scholar
Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JP: Consensus paper: pathological role of the cerebellum in autism. Cerebellum. 2012, 11: 777-807. 10.1007/s12311-012-0355-9.
PubMed Central
PubMed
Google Scholar
Bourgeron T: The possible interplay of synaptic and clock genes in autism spectrum disorders. Cold Spring Harb Symp Quant Biol. 2007, 72: 645-654. 10.1101/sqb.2007.72.020.
CAS
PubMed
Google Scholar
Wimpory D, Nicholas B, Nash S: Social timing, clock genes and autism: a new hypothesis. J Intellect Disabil Res. 2002, 46 (Pt 4): 352-358.
CAS
PubMed
Google Scholar
Melke J, Goubran Botros H, Chaste P, Betancur C, Nygren G, Anckarsater H, Rastam M, Stahlberg O, Gillberg IC, Delorme R, Chabane N, Mouren-Simeoni MC, Fauchereau F, Durand CM, Chevalier F, Drouot X, Collet C, Launay JM, Leboyer M, Gillberg C, Bourgeron T: Abnormal melatonin synthesis in autism spectrum disorders. Mol Psychiatry. 2008, 13: 90-98. 10.1038/sj.mp.4002016.
PubMed Central
CAS
PubMed
Google Scholar
Lalonde R, Strazielle C: Discrimination learning in Rora(sg) and Grid2(ho) mutant mice. Neurobiol Learn Mem. 2008, 90 (2): 472-474. 10.1016/j.nlm.2008.05.004.
CAS
PubMed
Google Scholar
Goodall G, Gheusi G: Abnormal patterns of maze patrolling in the mutant mouse staggerer. Behav Neural Biol. 1987, 47: 307-320. 10.1016/S0163-1047(87)90422-5.
CAS
PubMed
Google Scholar
Lalonde R, Botez MI, Boivin D: Object exploration in staggerer mutant mice. Physiol Behav. 1987, 41: 115-117. 10.1016/0031-9384(87)90139-9.
CAS
PubMed
Google Scholar
Lalonde R: Exploration and spatial learning in staggerer mutant mice. J Neurogenet. 1987, 4: 285-291.
CAS
PubMed
Google Scholar
Gold DA, Baek SH, Schork NJ, Rose DW, Larsen DD, Sachs BD, Rosenfeld MG, Hamilton BA: RORalpha coordinates reciprocal signaling in cerebellar development through sonic hedgehog and calcium-dependent pathways. Neuron. 2003, 40: 1119-1131. 10.1016/S0896-6273(03)00769-4.
PubMed Central
CAS
PubMed
Google Scholar
Raichur S, Fitzsimmons RL, Myers SA, Pearen MA, Lau P, Eriksson N, Wang SM, Muscat GE: Identification and validation of the pathways and functions regulated by the orphan nuclear receptor, ROR alpha1, in skeletal muscle. Nucleic Acids Res. 2010, 38: 4296-4312. 10.1093/nar/gkq180.
PubMed Central
CAS
PubMed
Google Scholar
Kang HS, Okamoto K, Takeda Y, Beak JY, Gerrish K, Bortner CD, DeGraff LM, Wada T, Xie W, Jetten AM: Transcriptional profiling reveals a role for RORalpha in regulating gene expression in obesity-associated inflammation and hepatic steatosis. Physiol Genomics. 2011, 43: 818-828. 10.1152/physiolgenomics.00206.2010.
PubMed Central
CAS
PubMed
Google Scholar
Johnson WE, Li W, Meyer CA, Gottardo R, Carroll JS, Brown M, Liu XS: Model-based analysis of tiling-arrays for ChIP-chip. Proc Natl Acad Sci U S A. 2006, 103: 12457-12462. 10.1073/pnas.0601180103.
PubMed Central
CAS
PubMed
Google Scholar
Martin CL, Duvall JA, Ilkin Y, Simon JS, Arreaza MG, Wilkes K, Alvarez-Retuerto A, Whichello A, Powell CM, Rao K, Cook E, Geschwind DH: Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet. 2007, 144B: 869-876. 10.1002/ajmg.b.30530.
CAS
PubMed
Google Scholar
Basu SN, Kollu R, Banerjee-Basu S: AutDB: A gene reference resource for autism research. Nucleic Acids Res. 2009, 37 (Suppl 1): D832-D836.
PubMed Central
CAS
PubMed
Google Scholar
Xu L, Li J, Huang Y, Zhao M, Tang X, Wei L: AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Res. 2012, 40 (D1): D1016-D1022. 10.1093/nar/gkr1145.
PubMed Central
CAS
PubMed
Google Scholar
Odawara H, Iwasaki T, Horiguchi J, Rokutanda N, Hirooka K, Miyazaki W, Koibuchi Y, Shimokawa N, Iino Y, Takeyoshi I, Koibuchi N: Activation of aromatase expression by retinoic acid receptor-related orphan receptor (ROR) alpha in breast cancer cells: identification of a novel ROR response element. J Biol Chem. 2009, 284: 17711-17719. 10.1074/jbc.M109.009241.
PubMed Central
CAS
PubMed
Google Scholar
Farre D, Roset R, Huerta M, Adsuara JE, Rosello L, Alba MM, Messeguer X: Identification of patterns in biological sequences at the ALGGEN server: PROMO and MALGEN. Nucleic Acids Res. 2003, 31: 3651-3653. 10.1093/nar/gkg605.
PubMed Central
CAS
PubMed
Google Scholar
Messeguer X, Escudero R, Farre D, Nunez O, Martinez J, Alba MM: PROMO: detection of known transcription regulatory elements using species-tailored searches. Bioinformatics. 2002, 18: 333-334. 10.1093/bioinformatics/18.2.333.
CAS
PubMed
Google Scholar
Bryne JC, Valen E, Tang MH, Marstrand T, Winther O, da Piedade I, Krogh A, Lenhard B, Sandelin A: JASPAR, the open access database of transcription factor-binding profiles: new content and tools in the 2008 update. Nucleic Acids Res. 2008, 36: D102-D106. 10.1093/nar/gkn449.
PubMed Central
CAS
PubMed
Google Scholar
Rozen S, Skaletsky H: Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol. 2000, 132: 365-386.
CAS
PubMed
Google Scholar
Hu VW, Nguyen A, Kim KS, Steinberg ME, Sarachana T, Scully MA, Soldin SJ, Luu T, Lee NH: Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis. PLoS One. 2009, 4: e5775-10.1371/journal.pone.0005775.
PubMed Central
PubMed
Google Scholar
Johnson NL, Kotz S, Kemp AW: Univariate Discrete Distributions. 1992, New York: Wiley
Google Scholar
Huang DW, Sherman BT, Lempicki RA: Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc. 2009, 4: 44-57.
CAS
Google Scholar
Huang DW, Sherman BT, Lempicki RA: Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res. 2009, 37: 1-13. 10.1093/nar/gkn923.
PubMed Central
Google Scholar
Amaral DG, Schumann CM, Nordahl CW: Neuroanatomy of autism. Trends Neurosci. 2008, 31: 137-145. 10.1016/j.tins.2007.12.005.
CAS
PubMed
Google Scholar
Bourgeron T: A synaptic trek to autism. Curr Opin Neurobiol. 2009, 19: 231-234. 10.1016/j.conb.2009.06.003.
CAS
PubMed
Google Scholar
Carper RA, Courchesne E: Localized enlargement of the frontal cortex in early autism. Biol Psychiatry. 2005, 57: 126-133. 10.1016/j.biopsych.2004.11.005.
PubMed
Google Scholar
Courchesne E, Pierce K: Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection. Curr Opin Neurobiol. 2005, 15: 225-230. 10.1016/j.conb.2005.03.001.
CAS
PubMed
Google Scholar
Kelleher RJ, Bear MF: The autistic neuron: troubled translation?. Cell. 2008, 135: 401-406. 10.1016/j.cell.2008.10.017.
CAS
PubMed
Google Scholar
Wegiel J, Kuchna I, Nowicki K, Imaki H, Wegiel J, Marchi E, Ma SY, Chauhan A, Chauhan V, Bobrowicz TW, de Leon M, Louis LA, Cohen IL, London E, Brown WT, Wisniewski T: The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. Acta Neuropathol. 2010, 119: 755-770. 10.1007/s00401-010-0655-4.
PubMed Central
PubMed
Google Scholar
Konstantareas MM, Hewitt T: Autistic disorder and schizophrenia: diagnostic overlaps. J Autism Dev Disord. 2001, 31: 19-28. 10.1023/A:1005605528309.
CAS
PubMed
Google Scholar
Volkmar FR, Cohen DJ: Comorbid association of autism and schizophrenia. Am J Psychiatry. 1991, 148: 1705-1707.
CAS
PubMed
Google Scholar
Ghaziuddin M, Butler E: Clumsiness in autism and Asperger syndrome: a further report. J Intellect Disabil Res. 1998, 42: 43-48. 10.1046/j.1365-2788.1998.00065.x.
PubMed
Google Scholar
Jones V, Prior M: Motor imitation abilities and neurological signs in autistic children. J Autism Dev Disord. 1985, 15: 37-46. 10.1007/BF01837897.
CAS
PubMed
Google Scholar
Kielinen M, Rantala H, Timonen E, Linna SL, Moilanen I: Associated medical disorders and disabilities in children with autistic disorder: a population-based study. Autism. 2004, 8: 49-60. 10.1177/1362361304040638.
PubMed
Google Scholar
Minshew NJ, Sung K, Jones BL, Furman JM: Underdevelopment of the postural control system in autism. Neurology. 2004, 63: 2056-2061. 10.1212/01.WNL.0000145771.98657.62.
PubMed
Google Scholar
Vilensky JA, Damasio AR, Maurer RG: Gait disturbances in patients with autistic behavior: a preliminary study. Arch Neurol. 1981, 38: 646-649. 10.1001/archneur.1981.00510100074013.
CAS
PubMed
Google Scholar
Hartley-McAndrew M, Weinstock A: Autism Spectrum Disorder: Correlation between aberrant behaviors, EEG abnormalities and seizures. Neurology Int. 2010, 2: 42-47.
Google Scholar
Robinson SJ: Childhood epilepsy and autism spectrum disorders: psychiatric problems, phenotypic expression, and anticonvulsants. Neuropsychol Rev. 2012, 22: 271-279. 10.1007/s11065-012-9212-3.
PubMed
Google Scholar
Lesca G, Rudolf G, Labalme A, Hirsch E, Arzimanoglou A, Genton P, Motte J, de Saint Martin A, Valenti M, Boulay C, De Bellescize J, Kéo-Kosal P, Boutry-Kryza N, Edery P, Sanlaville D, Szepetowski P: Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism. Epilepsia. 2012, 53: 1526-1538. 10.1111/j.1528-1167.2012.03559.x.
CAS
PubMed
Google Scholar
Berg AT, Plioplys S: Epilepsy and autism: is there a special relationship?. Epilepsy Behav. 2012, 23: 193-198. 10.1016/j.yebeh.2012.01.015.
PubMed Central
PubMed
Google Scholar
Zhou H, Baraniak AP, Lou H: Role for Fox-1/Fox-2 in mediating the neuronal pathway of calcitonin/calcitonin gene-related peptide alternative RNA processing. Mol Cell Biol. 2007, 27: 830-841. 10.1128/MCB.01015-06.
PubMed Central
CAS
PubMed
Google Scholar
Hussman JP, Chung RH, Griswold AJ, Jaworski JM, Salyakina D, Ma D, Konidari I, Whitehead PL, Vance JM, Martin ER, Cuccaro ML, Gilbert JR, Haines JL, Pericak-Vance MA: A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. Mol Autism. 2011, 2: 1-10.1186/2040-2392-2-1.
PubMed Central
PubMed
Google Scholar
Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH: Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature. 2011, 474: 380-384. 10.1038/nature10110.
PubMed Central
CAS
PubMed
Google Scholar
Autism Genome Project C, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C: Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007, 39: 319-328. 10.1038/ng1985.
Google Scholar
Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minutesshew NJ, Sutcliffe JS, Cook EH: Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009, 5: e1000536-10.1371/journal.pgen.1000536.
PubMed Central
PubMed
Google Scholar
Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS: Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry. 2012, 17: 402-411. 10.1038/mp.2011.10.
PubMed Central
CAS
PubMed
Google Scholar
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C: Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010, 466: 368-372. 10.1038/nature09146.
PubMed Central
CAS
PubMed
Google Scholar
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC: Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011, 70: 863-885. 10.1016/j.neuron.2011.05.002.
PubMed Central
CAS
PubMed
Google Scholar
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimaki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC: Strong association of de novo copy number mutations with autism. Science. 2007, 316: 445-449. 10.1126/science.1138659.
PubMed Central
CAS
PubMed
Google Scholar
Buxbaum JD, Silverman J, Keddache M, Smith CJ, Hollander E, Ramoz N, Reichert JG: Linkage analysis for autism in a subset families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19. Mol Psychiatry. 2004, 9: 144-150. 10.1038/sj.mp.4001465.
CAS
PubMed
Google Scholar
International Molecular Genetic Study of Autism Consortium: A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet. 1998, 7: 571-578.
CAS
Google Scholar
International Molecular Genetic Study of Autism Consortium: A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet. 2001, 69: 570-581.
Google Scholar
Lauritsen MB, Als TD, Dahl HA, Flint TJ, Wang AG, Vang M, Kruse TA, Ewald H, Mors O: A genome-wide search for alleles and haplotypes associated with autism and related pervasive developmental disorders on the Faroe Islands. Mol Psychiatry. 2006, 11: 37-46. 10.1038/sj.mp.4001754.
CAS
PubMed
Google Scholar
McCauley JL, Li C, Jiang L, Olson LM, Crockett G, Gainer K, Folstein SE, Haines JL, Sutcliffe JS: Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC Med Genet. 2005, 6: 1-
PubMed Central
PubMed
Google Scholar
Gehman LT, Stoilov P, Maguire J, Damianov A, Lin C, Shiue L, Ares M, Mody I, Black DL: The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain. Nat Genet. 2011, 43: 706-711. 10.1038/ng.841.
PubMed Central
CAS
PubMed
Google Scholar
Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH: RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Hum Mol Genet. 2012, 21: 4171-4186. 10.1093/hmg/dds240.
PubMed Central
CAS
PubMed
Google Scholar
Garcia-Segura LM: Aromatase in the brain: not just for reproduction anymore. J Neuroendocrinol. 2008, 20: 705-712. 10.1111/j.1365-2826.2008.01713.x.
CAS
PubMed
Google Scholar
Garcia-Segura LM, Veiga S, Sierra A, Melcangi RC, Azcoitia I: Aromatase: a neuroprotective enzyme. Prog Neurobiol. 2003, 71: 31-41. 10.1016/j.pneurobio.2003.09.005.
CAS
PubMed
Google Scholar
Rune GM, Frotscher M: Neurosteroid synthesis in the hippocampus: Role in synaptic plasticity. Neuroscience. 2005, 136: 833-842. 10.1016/j.neuroscience.2005.03.056.
CAS
PubMed
Google Scholar
Chauhan A, Chauhan V: Oxidative stress in autism. Pathophysiology. 2006, 13: 171-181. 10.1016/j.pathophys.2006.05.007.
CAS
PubMed
Google Scholar
McGinnis WR: Oxidative stress in autism. Altern Ther Health Med. 2004, 10: 22-36.
PubMed
Google Scholar
El-Emam Dief A, Caldwell JD, Jirikowski GF: Colocalization of P450 Aromatase and Oxytocin Immunostaining in the Rat Hypothalamus. Horm and Metab Res. 2012, 45: 273-276.
Google Scholar
Allen-Brady K, Robison R, Cannon D, Varvil T, Villalobos M, Pingree C, Leppert MF, Miller J, McMahon WM, Coon H: Genome-wide linkage in Utah autism pedigrees. Mol Psychiatry. 2010, 15: 1006-1015. 10.1038/mp.2009.42.
PubMed Central
CAS
PubMed
Google Scholar
Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, Banerjee-Basu S, Baron-Cohen S: Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Autism Res. 2009, 2: 157-177. 10.1002/aur.80.
CAS
PubMed
Google Scholar
Yang S, He X, Miller D: Hydroxysteroid (17β) dehydrogenase X in human health and disease. Mol Cell Endocrinol. 2011, 343: 1-6. 10.1016/j.mce.2011.06.011.
CAS
PubMed
Google Scholar
Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J: The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am J Hum Genet. 2007, 80: 372-377. 10.1086/511527.
PubMed Central
CAS
PubMed
Google Scholar
Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet. 2003, 72: 1300-1307. 10.1086/375116.
PubMed Central
CAS
PubMed
Google Scholar
Reyniers E, Van Bogaert P, Peeters N, Vits L, Pauly F, Fransen E, Van Regemorter N, Kooy RF: A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. Am J Hum Genet. 1999, 65: 1406-1412. 10.1086/302638.
PubMed Central
CAS
PubMed
Google Scholar
Edens AC, Lyons MJ, Duron RM, Dupont BR, Holden KR: Autism in two females with duplications involving Xp11.22-p11.23. Dev Med Child Neurol. 2011, 53: 463-466. 10.1111/j.1469-8749.2010.03909.x.
PubMed
Google Scholar
Banerjee S, Hasan G: The InsP3 receptor: its role in neuronal physiology and neurodegeneration. Bioessays. 2005, 27: 1035-1047. 10.1002/bies.20298.
CAS
PubMed
Google Scholar
Hernjak N, Slepchenko BM, Fernald K, Fink CC, Fortin D, Moraru II, Watras J, Loew LM: Modeling and analysis of calcium signaling events leading to long-term depression in cerebellar Purkinje cells. Biophys J. 2005, 89: 3790-3806. 10.1529/biophysj.105.065771.
PubMed Central
CAS
PubMed
Google Scholar
Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A, Uppstromer A, Anderlid BM, Nordenskjold M, Schoumans J: Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet. 2011, 156: 115-124. 10.1002/ajmg.b.31142.
PubMed
Google Scholar
Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M: Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron. 2011, 70: 886-897. 10.1016/j.neuron.2011.05.015.
CAS
PubMed
Google Scholar
Scheiffele P, Fan J, Choih J, Fetter R, Serafini T: Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell. 2000, 101: 657-669. 10.1016/S0092-8674(00)80877-6.
CAS
PubMed
Google Scholar
Gjørlund MD, Nielsen J, Pankratova S, Li S, Korshunova I, Bock E, Berezin V: Neuroligin-1 induces neurite outgrowth through interaction with neurexin-1β and activation of fibroblast growth factor receptor-1. FASEB Journal. 2012, 26: 4174-4186. 10.1096/fj.11-202242.
PubMed
Google Scholar
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T: Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009, 459: 569-573. 10.1038/nature07953.
PubMed Central
CAS
PubMed
Google Scholar
Ylisaukko-oja T, Rehnstrom K, Auranen M, Vanhala R, Alen R, Kempas E, Ellonen P, Turunen JA, Makkonen I, Riikonen R, Nieminen-von Wendt T, von Wendt L, Peltonen L, Jarvela I: Analysis of four neuroligin genes as candidates for autism. Eur J Hum Genet. 2005, 13: 1285-1292. 10.1038/sj.ejhg.5201474.
CAS
PubMed
Google Scholar
Allen-Brady K, Miller J, Matsunami N, Stevens J, Block H, Farley M, Krasny L, Pingree C, Lainhart J, Leppert M, McMahon WM, Coon H: A high-density SNP genome-wide linkage scan in a large autism extended pedigree. Mol Psychiatry. 2009, 14: 590-600. 10.1038/mp.2008.14.
CAS
PubMed
Google Scholar
Blundell J, Blaiss CA, Etherton MR, Espinosa F, Tabuchi K, Walz C, Bolliger MF, Sudhof TC, Powell CM: Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior. J Neurosci. 2010, 30: 2115-2129. 10.1523/JNEUROSCI.4517-09.2010.
PubMed Central
CAS
PubMed
Google Scholar
Shen K, Cowan CW: Guidance molecules in synapse formation and plasticity. Cold Spring Harbor Pers Biol. 2010, 2: a001842-10.1101/cshperspect.a001842.
Google Scholar
Luikart BW, Nef S, Virmani T, Lush ME, Liu Y, Kavalali ET, Parada LF: TrkB has a cell-autonomous role in the establishment of hippocampal schaffer collateral synapses. J Neurosci. 2005, 25: 3774-3786. 10.1523/JNEUROSCI.0041-05.2005.
CAS
PubMed
Google Scholar
Lu Y, Christian K, Lu B: BDNF: a key regulator for protein synthesis-dependent LTP and long-term memory?. Neurobiol Learn Mem. 2008, 89: 312-323. 10.1016/j.nlm.2007.08.018.
PubMed Central
CAS
PubMed
Google Scholar
Huang EJ, Reichardt LF: Trk receptors: Roles in neuronal signal transduction. Annu Rev Biochem. 2003, 72: 609-642. 10.1146/annurev.biochem.72.121801.161629.
CAS
PubMed
Google Scholar
Correia CT, Coutinho AM, Sequeira AF, Sousa IG, Lourenco Venda L, Almeida JP, Abreu RL, Lobo C, Miguel TS, Conroy J, Cochrane L, Gallagher L, Gill M, Ennis S, Oliveira GG, Vicente AM: Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism. Genes Brain Behav. 2010, 9: 841-848. 10.1111/j.1601-183X.2010.00627.x.
CAS
PubMed
Google Scholar