Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
about
Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathwaysMutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentUnusual bipartite mode of interaction between the nonsense-mediated decay factors, UPF1 and UPF2A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationMicroRNAs: Not "Fine-Tuners" but Key Regulators of Neuronal Development and FunctionEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseNonsense-mediated mRNA decay: inter-individual variability and human diseaseFragile X and X-linked intellectual disability: four decades of discoveryGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Nonsense-mediated mRNA decay in humans at a glanceNonsense-Mediated mRNA Decay: Degradation of Defective Transcripts Is Only Part of the StoryOrganizing principles of mammalian nonsense-mediated mRNA decayMutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and MiceExpression of the core exon-junction complex factor eukaryotic initiation factor 4A3 is increased during spatial exploration and striatally-mediated learningNOVA-dependent regulation of cryptic NMD exons controls synaptic protein levels after seizure.The exon junction complex in neural development and neurodevelopmental disease.Current themes in molecular pediatrics: molecular medicine and its applications.Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.The hierarchy of exon-junction complex assembly by the spliceosome explains key features of mammalian nonsense-mediated mRNA decay.FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.The unfolded protein response affects readthrough of premature termination codonsExclusion of biglycan mutations in a cohort of patients with neuromuscular disorders.Intracellular calcium regulates nonsense-mediated mRNA decay.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.The genetic basis of non-syndromic intellectual disability: a reviewMutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.Nonsense-mediated decay in genetic disease: friend or foe?Drosophila Upf1 and Upf2 loss of function inhibits cell growth and causes animal death in a Upf3-independent mannerTranscriptome 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.UPF2, a nonsense-mediated mRNA decay factor, is required for prepubertal Sertoli cell development and male fertility by ensuring fidelity of the transcriptome.Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay.Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question.Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.The unfolded protein response is shaped by the NMD pathwayFull UPF3B function is critical for neuronal differentiation of neural stem cells.
P2860
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P2860
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
description
2007 nî lūn-bûn
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2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
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2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutations in UPF3B, a member o ...... onsyndromic mental retardation
@ast
Mutations in UPF3B, a member o ...... onsyndromic mental retardation
@en
Mutations in UPF3B, a member o ...... onsyndromic mental retardation
@nl
type
label
Mutations in UPF3B, a member o ...... onsyndromic mental retardation
@ast
Mutations in UPF3B, a member o ...... onsyndromic mental retardation
@en
Mutations in UPF3B, a member o ...... onsyndromic mental retardation
@nl
prefLabel
Mutations in UPF3B, a member o ...... onsyndromic mental retardation
@ast
Mutations in UPF3B, a member o ...... onsyndromic mental retardation
@en
Mutations in UPF3B, a member o ...... onsyndromic mental retardation
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P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations in UPF3B, a member o ...... onsyndromic mental retardation
@en
P2093
Adam Butler
Alison Gardner
Anand K Srivastava
Anna Hackett
Calli Tofts
Charles E Schwartz
Cindy Skinner
Claire Stevens
David Jones
Duane Superneau
P2860
P2888
P304
P3181
P356
10.1038/NG2100
P407
P50
P577
2007-09-01T00:00:00Z
P5875
P6179
1011339493