Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. - Test2 - elhamkhani - TriplyDB

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

http://www.wikidata.org/entity/Q33794546

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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish Stepping Out of the Shade: Control of Neuronal Activity by the Scaffold Protein Kidins220/ARMS Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders Behavioral phenotypes of genetic mouse models of autism.Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders Understanding the molecular basis of autism in a dish using hiPSCs-derived neurons from ASD patients Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome Complexity of gene expression evolution after duplication: protein dosage rebalancing Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.Alterations in sociability and functional brain connectivity caused by early-life seizures are prevented by bumetanide.Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism.Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.The Human Phenotype Ontology in 2017 Aberrant Expression of Histone Deacetylases 4 in Cognitive Disorders: Molecular Mechanisms and a Potential Target Advancing the understanding of autism disease mechanisms through genetics Neurobiology of social behavior abnormalities in autism and Williams syndrome Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms Synaptic, transcriptional and chromatin genes disrupted in autism Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics.Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy A comprehensive meta-analysis of common genetic variants in autism spectrum conditions Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies No population bias to left-hemisphere language in 4-year-olds with language impairment An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options.RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development.CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders Limited impact of Cntn4 mutation on autism-related traits in developing and adult C57BL/6J mice.Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex Merging data from genetic and epigenetic approaches to better understand autistic spectrum disorder.Epilepsy and Autism.mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/β-catenin signaling.

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P2860

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

http://www.wikidata.org/entity/Q33794546

description

2014 nî lūn-bûn

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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի ապրիլին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

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type

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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

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prefLabel

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

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J.AJHG.2014.03.018

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American Journal of Human Genetics

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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

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Agatino Battaglia

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Alexander Kolevzon

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Alison Merikangas

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Alistair T Pagnamenta

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Ana Tryfon

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Andreas G Chiocchetti

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Andrew Green

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Ann S Le Couteur

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Ann Thompson

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Anthony J Bailey

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P2860

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

SHANK1 Deletions in Males with Autism Spectrum Disorder

Functional impact of global rare copy number variation in autism spectrum disorders

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Rare structural variation of synapse and neurotransmission genes in autism

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

Structural variation of chromosomes in autism spectrum disorder

The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

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5

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Christopher Gillberg

Daniel Geschwind

Thomas Bourgeron

Steven Gallinger

Margaret A. Pericak-Vance

Hakon Hakonarson

Joseph D. Buxbaum

Catalina Betancur

Louise Gallagher

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2014-04-24T00:00:00Z

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261918505

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Autism spectrum

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