about
The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutationsAn NXF1 mRNA with a retained intron is expressed in hippocampal and neocortical neurons and is translated into a protein that functions as an Nxf1 cofactor.Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.Global analysis of pre-mRNA subcellular localization following splicing inhibition by spliceostatin A.Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein.Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.UPF1 helicase promotes TSN-mediated miRNA decay.From disease modelling to personalised therapy in patients with CEP290 mutationsThe determinants of alternative RNA splicing in human cells.Fluorescence Amplification Method for Forward Genetic Discovery of Factors in Human mRNA Degradation.A GC-rich sequence feature in the 3' UTR directs UPF1-dependent mRNA decay in mammalian cells.Control of gene expression through the nonsense-mediated RNA decay pathway.Molecular basis of β thalassemia and potential therapeutic targets.Identification of SERINC5-001 as the Predominant Spliced Isoform for HIV-1 Restriction.Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube SyndromeBRCA1 loses the ring but lords over resistance.Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes diseaseTranslation initiation mediated by nuclear cap-binding protein complex.Nonsense-mediated mRNA decay at the crossroads of many cellular pathwaysDual function of UPF3B in early and late translation termination.Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases.Intron retention enhances gene regulatory complexity in vertebrates.Novel gene mutation identified in a patient with arrhythmogenic ventricular cardiomyopathy.CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.Upf proteins: highly conserved factors involved in nonsense mRNA mediated decay.Identifying Cellular Nonsense-Mediated mRNA Decay (NMD) Targets: Immunoprecipitation of Phosphorylated UPF1 Followed by RNA Sequencing (p-UPF1 RIP-Seq).Alternative mRNA processing sites decrease genetic variability while increasing functional diversity.SERINC as a Restriction Factor to Inhibit Viral Infectivity and the Interaction with HIV.Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death.Arginine CGA codons as a source of nonsense mutations: a possible role in multivariant gene expression, control of mRNA quality, and aging.Antisense suppression of the nonsense mediated decay factor Upf3b as a potential treatment for diseases caused by nonsense mutations.Angiopoietin-1 is required for Schlemm's canal development in mice and humans.R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome.Nonsense-mediated mRNA Decay and Cancer.Studying Nonsense-Mediated mRNA Decay in Mammalian Cells Using a Multicolored Bioluminescence-Based Reporter System.An examination of multiple classes of rare variants in extended families with bipolar disorder.Intron retention in viruses and cellular genes: Detention, border controls and passports.Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.Mechanism of Nonsense-Mediated mRNA Decay Stimulation by Splicing Factor SRSF1.
P2860
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P2860
description
2016 nî lūn-bûn
@nan
2016 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Nonsense-mediated mRNA decay in humans at a glance
@ast
Nonsense-mediated mRNA decay in humans at a glance
@en
Nonsense-mediated mRNA decay in humans at a glance
@nl
type
label
Nonsense-mediated mRNA decay in humans at a glance
@ast
Nonsense-mediated mRNA decay in humans at a glance
@en
Nonsense-mediated mRNA decay in humans at a glance
@nl
prefLabel
Nonsense-mediated mRNA decay in humans at a glance
@ast
Nonsense-mediated mRNA decay in humans at a glance
@en
Nonsense-mediated mRNA decay in humans at a glance
@nl
P2860
P3181
P356
P1476
Nonsense-mediated mRNA decay in humans at a glance
@en
P2093
L. E. Maquat
T. Kurosaki
P2860
P3181
P356
10.1242/JCS.181008
P407
P577
2016-02-01T00:00:00Z