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12 results

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Page 1
The pathophysiology and treatment of autism.
Posey DJ, McDougle CJ. Posey DJ, et al. Curr Psychiatry Rep. 2001 Apr;3(2):101-8. doi: 10.1007/s11920-001-0006-1. Curr Psychiatry Rep. 2001. PMID: 11276404 Review.
Neurochemical and challenge studies continue to suggest a role for 5-HT dysregulation in autism. Additional research is needed to determine the role of neuroendocrine and autoimmune factors in autism. Significant gains have been made in determining which phar …
Neurochemical and challenge studies continue to suggest a role for 5-HT dysregulation in autism. Additional research is needed …
Maternal serotonin transporter genotype affects risk for ASD with exposure to prenatal stress.
Hecht PM, Hudson M, Connors SL, Tilley MR, Liu X, Beversdorf DQ. Hecht PM, et al. Autism Res. 2016 Nov;9(11):1151-1160. doi: 10.1002/aur.1629. Epub 2016 Apr 19. Autism Res. 2016. PMID: 27091118
Stress exposure during gestation is implicated in several neuropsychiatric conditions, including autism spectrum disorder (ASD). Previous research showed that prenatal stress increases risk for ASD with peak exposure during the end of the second and the beginning of …
Stress exposure during gestation is implicated in several neuropsychiatric conditions, including autism spectrum disorder (ASD …
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. Wintle RF, et al. Autism Res. 2011 Apr;4(2):89-97. doi: 10.1002/aur.173. Epub 2011 Jan 19. Autism Res. 2011. PMID: 21254448 Free PMC article.
The Autism Tissue Program (ATP), a science program of Autism Speaks, provides researchers with access to well-characterized postmortem brain tissues. ...Following an initial proof of principle study using two samples, 52 experimental samples, consisting of 27 subjec …
The Autism Tissue Program (ATP), a science program of Autism Speaks, provides researchers with access to well-characterized po …
Synaptic plasticity as a therapeutic target in the treatment of autism-related single-gene disorders.
Pignatelli M, Feligioni M, Piccinin S, Molinaro G, Nicoletti F, Nisticò R. Pignatelli M, et al. Curr Pharm Des. 2013;19(36):6480-90. doi: 10.2174/1381612811319360008. Curr Pharm Des. 2013. PMID: 23432715 Review.
These transgenic models provide excellent opportunities to explore in detail cellular and molecular mechanisms underlying disease pathology and to identify novel targets for therapeutic intervention. ...We describe how pharmacological modulation of mGlu5 receptor, t …
These transgenic models provide excellent opportunities to explore in detail cellular and molecular mechanisms underlying disease pat …
An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.
Mighell TL, Thacker S, Fombonne E, Eng C, O'Roak BJ. Mighell TL, et al. Am J Hum Genet. 2020 Jun 4;106(6):818-829. doi: 10.1016/j.ajhg.2020.04.014. Epub 2020 May 21. Am J Hum Genet. 2020. PMID: 32442409 Free PMC article.
We found that DMS data partially explain quantitative clinical traits, including head circumference and Cleveland Clinic (CC) score, which is a semiquantitative surrogate of disease burden. We built logistic regression models that use DMS and CADD scores to separate clinic …
We found that DMS data partially explain quantitative clinical traits, including head circumference and Cleveland Clinic (CC) score, which i …
Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome.
AlKalaf HY, AlHashem AM, AlSaleh NS, AlJohar NM, Abo Thneen AM, ElGhezal HM, Bouhjar IB, Tlili-Graiess K, Sahari AH, Tabarki BM. AlKalaf HY, et al. Neurosciences (Riyadh). 2020 Aug;25(4):287-291. doi: 10.17712/nsj.2020.4.20200045. Neurosciences (Riyadh). 2020. PMID: 33130809 Free PMC article.
Clinical data (epilepsy, neurological exam, neuropsychological and developmental assessment, and psychiatric disorders), neuroimaging, and cytogenetic tests were analyzed RESULTS: Of the 28 patients with 22q11.2 DS, 6 (21.4%) had epileptic seizures, 2 had symptomatic hypocalcemic …
Clinical data (epilepsy, neurological exam, neuropsychological and developmental assessment, and psychiatric disorders), neuroimaging, and c …
Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study.
Chawner SJRA, Owen MJ, Holmans P, Raymond FL, Skuse D, Hall J, van den Bree MBM. Chawner SJRA, et al. Lancet Psychiatry. 2019 Jun;6(6):493-505. doi: 10.1016/S2215-0366(19)30123-3. Epub 2019 May 2. Lancet Psychiatry. 2019. PMID: 31056457
The risk of attention-deficit hyperactivity disorder (OR 6.9, 3.2-15.1), oppositional defiant disorder (OR 3.6, 1.4-9.4), any anxiety disorder (OR 2.9, 1.2-6.7), and autism spectrum disorder traits (OR 44.1, 15.3-127.5) was particularly h …
The risk of attention-deficit hyperactivity disorder (OR 6.9, 3.2-15.1), oppositional defiant disorder (OR 3.6, 1.4-9.4), any …
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
Zhou WZ, Zhang J, Li Z, Lin X, Li J, Wang S, Yang C, Wu Q, Ye AY, Wang M, Wang D, Pu TZ, Wu YY, Wei L. Zhou WZ, et al. Hum Mutat. 2019 Jun;40(6):801-815. doi: 10.1002/humu.23724. Epub 2019 Apr 29. Hum Mutat. 2019. PMID: 30763456 Free PMC article.
Autism spectrum disorder (ASD) is a childhood neuropsychiatric disorder with a complex genetic architecture. ...Here, we designed a capture panel with 358 genes (111 syndromic and 247 nonsyndromic) for ASD and sequenced a Chinese cohort of 539 cases evaluated …
Autism spectrum disorder (ASD) is a childhood neuropsychiatric disorder with a complex genetic architecture. ...Here, w …
Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism.
Buizer-Voskamp JE, Franke L, Staal WG, van Daalen E, Kemner C, Ophoff RA, Vorstman JA, van Engeland H, Wijmenga C. Buizer-Voskamp JE, et al. Eur J Hum Genet. 2010 May;18(5):588-95. doi: 10.1038/ejhg.2009.206. Epub 2009 Nov 25. Eur J Hum Genet. 2010. PMID: 19935830 Free PMC article.
Supported by recent copy number variation findings in autism, we hypothesized that for some susceptibility loci, autism resembles a contiguous gene syndrome, caused by aberrations within multiple (contiguous) genes, which jointly increases autism su …
Supported by recent copy number variation findings in autism, we hypothesized that for some susceptibility loci, autism …
Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.
Rees E, Kirov G, Walters JT, Richards AL, Howrigan D, Kavanagh DH, Pocklington AJ, Fromer M, Ruderfer DM, Georgieva L, Carrera N, Gormley P, Palta P, Williams H, Dwyer S, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Tsuang MT, Glatt SJ, Chen WJ, Hwu HG; Taiwanese Trios Exome Sequencing Consortium; Neale BM, Palotie A, Sklar P, Purcell SM, McCarroll SA, Holmans P, Owen MJ, O'Donovan MC. Rees E, et al. Transl Psychiatry. 2015 Jul 21;5(7):e607. doi: 10.1038/tp.2015.99. Transl Psychiatry. 2015. PMID: 26196440 Free PMC article.
At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF 1%) in voltage-gated sodium channels (VGSCs; eight in probands and none in parents, P = 1.5 10(-)(4)). Previous findings of multiple de novo loss-of-func …
At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF 1%) in voltage-gated …
12 results