Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. - Test2 - elhamkhani - TriplyDB

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

http://www.wikidata.org/entity/Q34162345

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Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments SHANK1 Deletions in Males with Autism Spectrum Disorder Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function Autism risk factors: genes, environment, and gene-environment interactions Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders.Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements Neurogenomics of speech and language disorders: the road ahead Therapeutic approaches for shankopathies Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice Dysfunctional cerebellar Purkinje cells contribute to autism-like behaviour in Shank2-deficient mice.A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2 Sex differences in DNA methylation assessed by 450 K BeadChip in newborns Neuronal connectivity as a convergent target of gene × environment interactions that confer risk for Autism Spectrum Disorders Sequencing ASMT identifies rare mutations in Chinese Han patients with autism Impairment of translation in neurons as a putative causative factor for autism TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits Cyfip1 Regulates Presynaptic Activity during Development The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines Up-regulated cytoplasmic FMRP-interacting protein 1 in intractable temporal lobe epilepsy patients and a rat model Recording Mouse Ultrasonic Vocalizations to Evaluate Social Communication.Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy Massive screening of copy number population-scale variation in Bos taurus genome SHANK proteins: roles at the synapse and in autism spectrum disorder.Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.Molecular handoffs in nitrergic neurotransmission Synaptic proteins and receptors defects in autism spectrum disorders Investigation of SHANK3 in schizophrenia.The cerebellum, sensitive periods, and autism.Disruption of Arp2/3 results in asymmetric structural plasticity of dendritic spines and progressive synaptic and behavioral abnormalities

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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

http://www.wikidata.org/entity/Q34162345

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2012 nî lūn-bûn

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2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2012年の論文

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2012年論文

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2012年论文

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Genetic and functional analyse ...... of autism spectrum disorders.

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Genetic and functional analyse ...... of autism spectrum disorders.

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Genetic and functional analyse ...... of autism spectrum disorders.

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Genetic and functional analyse ...... of autism spectrum disorders.

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Genetic and functional analyse ...... of autism spectrum disorders.

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Genetic and functional analyse ...... of autism spectrum disorders.

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Genetic and functional analyse ...... of autism spectrum disorders.

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Genetic and functional analyse ...... of autism spectrum disorders.

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Genetic and functional analyse ...... of autism spectrum disorders.

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JOURNAL.PGEN.1002521

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Genetic and functional analyse ...... of autism spectrum disorders.

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Agatino Battaglia

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Andreas Chiocchetti

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Beatrice Regnault

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Brigitte Assouline

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Christian Proepper

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Christine M Freitag

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Claire S Leblond

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David A Collier

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Eftichia Duketis

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P2860

Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development

The genetics of autistic disorders and its clinical relevance: a review of the literature

Neuroligins and neurexins link synaptic function to cognitive disease

Correction of fragile X syndrome in mice.

Searching for ways out of the autism maze: genetic, epigenetic and environmental clues

The Autistic Neuron: Troubled Translation?

Rare chromosomal deletions and duplications increase risk of schizophrenia

Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations

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

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

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e1002521

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Christopher Gillberg

Thomas Bourgeron

Catalina Betancur

Guiomar Oliveira

Astrid M. Vicente

Henrik Anckarsäter

Dominique Bonneau

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2012-02-09T00:00:00Z

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221844170

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Autism spectrum

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