Genetic Causes and Modifiers of Autism Spectrum Disorder

scientific article published on 20 August 2019

Genetic Causes and Modifiers of Autism Spectrum Disorder is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.3389/FNCEL.2019.00385
P932PMC publication ID6710438
P698PubMed publication ID31481879

P50authorAlicia Guemez-gamboaQ42868188
P2093author name stringLauren Rylaarsdam
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The Contribution of Mosaic Variants to Autism Spectrum DisorderQ36134616
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Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profilesQ36718902
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Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes.Q38788916
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Recurrent 16p11.2 microdeletions in autismQ34729775
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Dosage-dependent phenotypes in models of 16p11.2 lesions found in autismQ35345720
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Investigation of sex differences in the expression of RORA and its transcriptional targets in the brain as a potential contributor to the sex bias in autismQ35694641
Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autismQ35880410
Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortexQ35949527
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.Q35958258
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variantQ36004324
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.Q30428959
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Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylationQ33283941
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disabilityQ33650848
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophreniaQ33717278
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayQ33763087
Convergence of genes and cellular pathways dysregulated in autism spectrum disordersQ33794546
Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variantsQ33818403
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Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypesQ33904472
Reelin gene alleles and haplotypes as a factor predisposing to autistic disorderQ33943718
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A higher mutational burden in females supports a "female protective model" in neurodevelopmental disordersQ34039999
The familial risk of autismQ34040809
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A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.Q34044602
Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approachQ34089144
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Sex differences in autism spectrum disordersQ34182847
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Common DNA methylation alterations in multiple brain regions in autism.Q34287640
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Microglia are essential to masculinization of brain and behaviorQ34327742
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A double hit implicates DIAPH3 as an autism risk gene.Q39724547
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Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.Q41066145
Activity-dependent growth of new dendritic spines is regulated by the proteasomeQ41407450
Increased signaling by the autism-related Engrailed-2 protein enhances dendritic branching and spine density, alters synaptic structural matching, and exaggerates protein synthesisQ41410549
Increased female autosomal burden of rare copy number variants in human populations and in autism families.Q41591288
Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.Q41614673
Copy number variation: what is it and what has it told us about child psychiatric disorders?Q41939751
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesQ42175057
Maternal viral infection during pregnancy impairs development of fetal serotonergic neurons.Q42217313
The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasomeQ42510417
Deficient autophagy in microglia impairs synaptic pruning and causes social behavioral defectsQ42619183
Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorderQ42638705
Autism symptoms in Attention-Deficit/Hyperactivity Disorder: a familial trait which correlates with conduct, oppositional defiant, language and motor disordersQ42662785
Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implicationsQ43055222
Perseverative responding and neuroanatomical alterations in adult heterozygous reeler mice are mitigated by neonatal estrogen administration.Q43069354
Fetal androgen exposure and pragmatic language ability of girls in middle childhood: implications for the extreme male-brain theory of autismQ43141308
Behavior and serotonergic disorders in rats exposed prenatally to valproate: a model for autismQ43207009
Unexplained autism is frequently associated with low-level mosaic aneuploidy.Q43232477
Increased dendritic spine densities on cortical projection neurons in autism spectrum disordersQ43246437
Histone Acetylome-wide Association Study of Autism Spectrum Disorder.Q43724674
Genomic Patterns of De Novo Mutation in Simplex Autism.Q43828985
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.Q44104104
Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sampleQ45232519
Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysisQ45375790
5-HT1A-receptor agonist modified amygdala activity and amygdala-associated social behavior in a valproate-induced rat autism modelQ45773857
Prenatal exposure to valproic acid leads to reduced expression of synaptic adhesion molecule neuroligin 3 in mice.Q45927791
Familial recurrence of autism spectrum disorder: evaluating genetic and environmental contributions.Q45933261
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizuresQ46049143
Autism-like behaviours with transient histone hyperacetylation in mice treated prenatally with valproic acidQ46258990
Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16).Q46830130
Kctd13 deletion reduces synaptic transmission via increased RhoA.Q47035966
Ube3a, the E3 ubiquitin ligase causing Angelman syndrome and linked to autism, regulates protein homeostasis through the proteasomal shuttle Rpn10.Q47070856
Excess Translation of Epigenetic Regulators Contributes to Fragile X Syndrome and Is Alleviated by Brd4 Inhibition.Q47132107
Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2.Q47341079
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disordersQ47389484
The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway.Q47675041
Chronic treatment with valproic acid or sodium butyrate attenuates novel object recognition deficits and hippocampal dendritic spine loss in a mouse model of autismQ47727299
Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental DisordersQ47747851
Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.Q47927504
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum DisorderQ47967143
Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disordersQ47998222
Relationship between absolute and relative ratios of glutamate, glutamine and GABA and severity of autism spectrum disorderQ48110361
GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disabilityQ48138078
Abnormal instability, excess density, and aberrant morphology of dendritic spines in prenatally testosterone-exposed miceQ48188428
Reduced prefrontal dopaminergic activity in valproic acid-treated mouse autism modelQ48213130
Genetic influences and infantile autismQ48313383
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P921main subjectautismQ38404
autism spectrum disorderQ1436063
P304page(s)385
P577publication date2019-08-20
P1433published inFrontiers in Cellular NeuroscienceQ2131509
P1476titleGenetic Causes and Modifiers of Autism Spectrum Disorder
P478volume13

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cites work (P2860)
Q89920094Genetic Modifiers and Rare Mendelian Disease
Q90471873Genetic landscape of autism spectrum disorder in Vietnamese children
Q89606603Peripheral Somatosensory Neuron Dysfunction: Emerging Roles in Autism Spectrum Disorders
Q98224597Preeclampsia Drives Molecular Networks to Shift Toward Greater Vulnerability to the Development of Autism Spectrum Disorder
Q89450433Profiling parvalbumin interneurons using iPSC: challenges and perspectives for Autism Spectrum Disorder (ASD)

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