Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
about
Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant miceWhole-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 impairmentsSHANK1 Deletions in Males with Autism Spectrum DisorderAutistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor functionAutism risk factors: genes, environment, and gene-environment interactionsDual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorderThe Evolving Diagnostic and Genetic Landscapes of Autism Spectrum DisorderClinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders.Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsNeurogenomics of speech and language disorders: the road aheadTherapeutic approaches for shankopathiesTwo 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 miceDysfunctional 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 TreatmentConnecting the CNTNAP2 Networks with Neurodevelopmental DisordersAnalysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHEAutistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2Sex differences in DNA methylation assessed by 450 K BeadChip in newbornsNeuronal connectivity as a convergent target of gene × environment interactions that confer risk for Autism Spectrum DisordersSequencing ASMT identifies rare mutations in Chinese Han patients with autismImpairment of translation in neurons as a putative causative factor for autismTYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traitsCyfip1 Regulates Presynaptic Activity during DevelopmentThe autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spinesUp-regulated cytoplasmic FMRP-interacting protein 1 in intractable temporal lobe epilepsy patients and a rat modelRecording 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 formationA genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsyMassive screening of copy number population-scale variation in Bos taurus genomeSHANK 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 neurotransmissionSynaptic proteins and receptors defects in autism spectrum disordersInvestigation 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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P2860
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Genetic and functional analyse ...... of autism spectrum disorders.
@ast
Genetic and functional analyse ...... of autism spectrum disorders.
@en
Genetic and functional analyse ...... of autism spectrum disorders.
@nl
type
label
Genetic and functional analyse ...... of autism spectrum disorders.
@ast
Genetic and functional analyse ...... of autism spectrum disorders.
@en
Genetic and functional analyse ...... of autism spectrum disorders.
@nl
prefLabel
Genetic and functional analyse ...... of autism spectrum disorders.
@ast
Genetic and functional analyse ...... of autism spectrum disorders.
@en
Genetic and functional analyse ...... of autism spectrum disorders.
@nl
P2093
P2860
P50
P1433
P1476
Genetic and functional analyse ...... of autism spectrum disorders.
@en
P2093
Agatino Battaglia
Andreas Chiocchetti
Beatrice Regnault
Brigitte Assouline
Christian Proepper
Christine M Freitag
Claire S Leblond
David A Collier
David Skuse
Eftichia Duketis
P2860
P304
P356
10.1371/JOURNAL.PGEN.1002521
P407
P50
P577
2012-02-09T00:00:00Z