De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
about
Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant miceHaploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communicationVariation in genome-wide mutation rates within and between human familiesMeta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsTruncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaDe novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairmentSHANK1 Deletions in Males with Autism Spectrum DisorderThe association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysisSynaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3Autism risk factors: genes, environment, and gene-environment interactionsThe 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Direct measure of the de novo mutation rate in autism and schizophrenia cohortsEnhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autismAutism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neuronsClinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders.Behavioral phenotypes of genetic mouse models of autism.Toward developmental models of psychiatric disorders in zebrafishLateral organization of the postsynaptic densityTherapeutic approaches for shankopathiesDeveloping Medications Targeting Glutamatergic Dysfunction in Autism: Progress to DateTwo knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.New insights into the generation and role of de novo mutations in health and diseaseMutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficienciesMice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects.Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersSHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patientsDeletion of glutamate delta-1 receptor in mouse leads to aberrant emotional and social behaviorsExcess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilitySHANK 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.CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency.Investigation of SHANK3 in schizophrenia.The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia.Altered Striatal Synaptic Function and Abnormal Behaviour in Shank3 Exon4-9 Deletion Mouse Model of AutismSHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission.SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.Mice with reduced NMDA receptor expression: more consistent with autism than schizophrenia?Use of zebrafish as a model to understand mechanisms of addiction and complex neurobehavioral phenotypes.
P2860
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P2860
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
description
2010 nî lūn-bûn
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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
De novo mutations in the gene ...... ascertained for schizophrenia
@nl
De novo mutations in the gene ...... ascertained for schizophrenia.
@ast
De novo mutations in the gene ...... ascertained for schizophrenia.
@en
type
label
De novo mutations in the gene ...... ascertained for schizophrenia
@nl
De novo mutations in the gene ...... ascertained for schizophrenia.
@ast
De novo mutations in the gene ...... ascertained for schizophrenia.
@en
prefLabel
De novo mutations in the gene ...... ascertained for schizophrenia
@nl
De novo mutations in the gene ...... ascertained for schizophrenia.
@ast
De novo mutations in the gene ...... ascertained for schizophrenia.
@en
P2093
P2860
P50
P3181
P356
P1476
De novo mutations in the gene ...... ascertained for schizophrenia.
@en
P2093
Ali P Haghighi
Anne Noreau
Claude Marineau
Edna Brustein
Eric A Stone
Fadi F Hamdan
Fayçal Mouaffak
Ferid Fathalli
Huashan Peng
Judith L Rapoport
P2860
P304
P3181
P356
10.1073/PNAS.0906232107
P407
P50
P577
2010-04-12T00:00:00Z