Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. - Wikidata - awgldk - TriplyDB

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

http://www.wikidata.org/entity/Q37166261

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Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53 Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia Genetics of autistic disorders: review and clinical implications From molecules to neural morphology: understanding neuroinflammation in autism spectrum condition Prenatal exposure to a common organophosphate insecticide delays motor development in a mouse model of idiopathic autism The genetic effect of copy number variations on the risk of type 2 diabetes in a Korean population Genome-wide profiling of structural genomic variations in Korean HapMap individuals Systems genetic analysis of hippocampal neuroanatomy and spatial learning in mice.Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders.Increased de novo copy number variants in the offspring of older males Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans.The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.Identification of copy number variation hotspots in human populations.MEK-ERK1/2-dependent FLNA overexpression promotes abnormal dendritic patterning in tuberous sclerosis independent of mTOR.Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.The metabotropic glutamate receptor activates the lipid kinase PI3K in Drosophila motor neurons through the calcium/calmodulin-dependent protein kinase II and the nonreceptor tyrosine protein kinase DFak Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond.Integrative gene network analysis provides novel regulatory relationships, genetic contributions and susceptible targets in autism spectrum disorders Increased expression of the PI3K catalytic subunit p110δ underlies elevated S6 phosphorylation and protein synthesis in an individual with autism from a multiplex family.Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.AKAPs integrate genetic findings for autism spectrum disorders.The role of AUTS2 in neurodevelopment and human evolution.Dysregulation of mRNA Localization and Translation in Genetic Disease Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.Dynamic Akt/mTOR Signaling in Children with Autism Spectrum Disorder GeneAnalytics Pathway Analysis and Genetic Overlap among Autism Spectrum Disorder, Bipolar Disorder and Schizophrenia.Childhood psychiatric disorders as anomalies in neurodevelopmental trajectories.Immune dysfunction in autism: a pathway to treatment.Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.Glutamatergic candidate genes in autism spectrum disorder: an overview.Neuron-specific regulation of class I PI3K catalytic subunits and their dysfunction in brain disorders.Etiology of autism spectrum disorder: a genomics perspective.Medical conditions in autism spectrum disorders Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders.

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Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

http://www.wikidata.org/entity/Q37166261

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article científic

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artigo científico

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bilimsel makale

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scientific article published on 26 February 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Autism-specific copy number va ...... the etiology of the disorder.

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Autism-specific copy number va ...... the etiology of the disorder.

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type

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Autism-specific copy number va ...... the etiology of the disorder.

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Autism-specific copy number va ...... the etiology of the disorder.

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Autism-specific copy number va ...... the etiology of the disorder.

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Autism-specific copy number va ...... the etiology of the disorder.

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Human Molecular Genetics

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Autism-specific copy number va ...... n the etiology of the disorder

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Blanca Gener

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Elisabet Vilella

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Fátima Gallastegui

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Luis A Pérez-Jurado

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Miguel Del Campo

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Mireia Vilardell

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Olaya Villa

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Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

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Autism: many genes, common pathways?

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

High frequency of neurexin 1beta signal peptide structural variants in patients with autism

Characterization of p150, an adaptor protein for the human phosphatidylinositol (PtdIns) 3-kinase. Substrate presentation by phosphatidylinositol transfer protein to the p150.Ptdins 3-kinase complex

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

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scholarly article

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10.1093/HMG/DDP092

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10

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Benjamín Rodríguez-Santiago

E Gonzalez-Roca

Andrés Medrano

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2009-02-26T00:00:00Z

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24043770

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