Contribution of SHANK3 mutations to autism spectrum disorder - Test2 - elhamkhani - TriplyDB

Contribution of SHANK3 mutations to autism spectrum disorder

Contribution of SHANK3 mutations to autism spectrum disorder

http://www.wikidata.org/entity/Q24648672

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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 Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication Recent advances in the pathogenesis of syndromic autisms Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist Advances in autism genetics: on the threshold of a new neurobiology Neuroligins and neurexins link synaptic function to cognitive disease Autism and brain development The role of immune dysfunction in the pathophysiology of autism Unraveling autism Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability Rare deletions at the neurexin 3 locus in autism spectrum disorder Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation SHANK1 Deletions in Males with Autism Spectrum Disorder Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3 Shank3 mutant mice display autistic-like behaviours and striatal dysfunction Autism risk factors: genes, environment, and gene-environment interactions The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Direct measure of the de novo mutation rate in autism and schizophrenia cohorts Emerging pharmacotherapies for neurodevelopmental disorders Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.Genetics of autistic disorders: review and clinical implications Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation Autism genome-wide copy number variation reveals ubiquitin and neuronal genes Multiple rare variants in the etiology of autism spectrum disorders A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB Current developments in the genetics of autism: from phenome to genome Structural variation of chromosomes in autism spectrum disorder Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications Behavioral phenotypes of genetic mouse models of autism.Using Sibling Designs to Understand Neurodevelopmental Disorders: From Genes and Environments to Prevention Programming Consensus paper: pathological role of the cerebellum in autism Cellular and synaptic network defects in autism The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment.CNVs: harbingers of a rare variant revolution in psychiatric genetics Therapeutic approaches for shankopathies

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Contribution of SHANK3 mutations to autism spectrum disorder

http://www.wikidata.org/entity/Q24648672

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2007 nî lūn-bûn

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2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Contribution of SHANK3 mutations to autism spectrum disorder

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Contribution of SHANK3 mutations to autism spectrum disorder

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Contribution of SHANK3 mutations to autism spectrum disorder

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Contribution of SHANK3 mutations to autism spectrum disorder

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Contribution of SHANK3 mutations to autism spectrum disorder

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Contribution of SHANK3 mutations to autism spectrum disorder

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Contribution of SHANK3 mutations to autism spectrum disorder

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Contribution of SHANK3 mutations to autism spectrum disorder

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Contribution of SHANK3 mutations to autism spectrum disorder

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American Journal of Human Genetics

P1476

Contribution of SHANK3 mutations to autism spectrum disorder

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P2093

Bridget Fernandez

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Christian R Marshall

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Jennifer Skaug

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John Vincent

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Rainald Moessner

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P2860

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

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

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

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

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

Inference of population structure using multilocus genotype data

Human chromosome 7: DNA sequence and biology

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Strong association of de novo copy number mutations with autism

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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478392

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10.1086/522590

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6

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81

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James S. Sutcliffe

Lonnie Zwaigenbaum

Stephen W. Scherer

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2007-12-01T00:00:00Z

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5848287

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17999366

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Autism spectrum

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2276348

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