Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID.
about
A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminalsZinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia.The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutationsThe Shank3 Interaction Partner ProSAPiP1 Regulates Postsynaptic SPAR Levels and the Maturation of Dendritic Spines in Hippocampal Neurons.Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism.Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.Dendritic overgrowth and elevated ERK signaling during neonatal development in a mouse model of autismSelective Localization of Shanks to VGLUT1-Positive Excitatory Synapses in the Mouse Hippocampus.Characterization of the Statistical Signatures of Micro-Movements Underlying Natural Gait Patterns in Children with Phelan McDermid Syndrome: Towards Precision-Phenotyping of Behavior in ASD.Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).Sipa1l3/SPAR3 is targeted to postsynaptic specializations and interacts with the Fezzin ProSAPiP1/Lzts3.The Synapse as a Central Target for Neurodevelopmental Susceptibility to PesticidesTwo de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.Persistent 6-OH-BDE-47 exposure impairs functional neuronal maturation and alters expression of neurodevelopmentally-relevant chromatin remodelers.Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.GABA Neuronal Deletion of Exons 14-16 in Mice Suppresses Striatal Excitatory Synaptic Input and Induces Social and Locomotor Abnormalities
P2860
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P2860
Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID.
description
2015 nî lūn-bûn
@nan
2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Phenotypic and functional anal ...... ndividuals with ASD and/or ID.
@ast
Phenotypic and functional anal ...... ndividuals with ASD and/or ID.
@en
type
label
Phenotypic and functional anal ...... ndividuals with ASD and/or ID.
@ast
Phenotypic and functional anal ...... ndividuals with ASD and/or ID.
@en
prefLabel
Phenotypic and functional anal ...... ndividuals with ASD and/or ID.
@ast
Phenotypic and functional anal ...... ndividuals with ASD and/or ID.
@en
P2093
P2860
P1433
P1476
Phenotypic and functional anal ...... ndividuals with ASD and/or ID.
@en
P2093
Alexander Kolevzon
Daniela M Cochoy
Maria Pascual-Lucas
Michael J Schmeisser
Michael Schoen
Stacey Lurie
Tobias M Boeckers
P2860
P2888
P356
10.1186/S13229-015-0020-5
P577
2015-04-29T00:00:00Z
P5875
P6179
1014715238