Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
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Nonsense-mediated mRNA decay: inter-individual variability and human diseaseIL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA signaling pathwayNonsense-mediated mRNA decay in humans at a glanceOrganizing principles of mammalian nonsense-mediated mRNA decayThe exon junction complex in neural development and neurodevelopmental disease.RNA sequencing of synaptic and cytoplasmic Upf1-bound transcripts supports contribution of nonsense-mediated decay to epileptogenesis.Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.RNA homeostasis governed by cell type-specific and branched feedback loops acting on NMD.Identification of SMG6 cleavage sites and a preferred RNA cleavage motif by global analysis of endogenous NMD targets in human cells.Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay.Full UPF3B function is critical for neuronal differentiation of neural stem cells.A critical role of RBM8a in proliferation and differentiation of embryonic neural progenitors.A conserved microRNA/NMD regulatory circuit controls gene expression.Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated MicrocephalyTranscriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders.Regulation of nonsense-mediated mRNA decay.Autism spectrum disorders: the quest for genetic syndromes.Regulation of natural mRNAs by the nonsense-mediated mRNA decay pathway.Regulation of gene expression through production of unstable mRNA isoforms.mRNA metabolism and neuronal disease.Mechanism, factors, and physiological role of nonsense-mediated mRNA decay.Physiological and pathophysiological role of nonsense-mediated mRNA decay.Neurogenesis: Regulation by Alternative Splicing and Related Posttranscriptional Processes.The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2.Control of gene expression through the nonsense-mediated RNA decay pathway.RNA metabolism: putting the brake on the UPR.Nonsense-mediated mRNA decay at the crossroads of many cellular pathwaysThe UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth.A Upf3b-mutant mouse model with behavioral and neurogenesis defects.Germline Chd8 haploinsufficiency alters brain development in mouse.Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?Control of CNS functions by RNA-binding proteins in neurological diseases
P2860
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P2860
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Mutations of the UPF3B gene, w ...... dation with or without autism.
@en
Mutations of the UPF3B gene, w ...... dation with or without autism.
@nl
type
label
Mutations of the UPF3B gene, w ...... dation with or without autism.
@en
Mutations of the UPF3B gene, w ...... dation with or without autism.
@nl
prefLabel
Mutations of the UPF3B gene, w ...... dation with or without autism.
@en
Mutations of the UPF3B gene, w ...... dation with or without autism.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations of the UPF3B gene, w ...... dation with or without autism.
@en
P2093
H H Ropers
H Van Esch
L S Nguyen
P2860
P2888
P304
P356
10.1038/MP.2009.14
P407
P577
2009-02-24T00:00:00Z
P5875
P6179
1016512033