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Gene expression regulation by upstream open reading frames and human disease
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8 September 2019
title
Gene expression regulation by upstream open reading frames and human disease
(English)
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main subject
regulation of gene expression
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PubMed
retrieved
8 September 2019
author name string
Barbosa C
series ordinal
1
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Peixeiro I
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2
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Romão L
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3
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publication date
2013
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8 August 2013
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8 September 2019
published in
PLOS Genetics
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stated in
PubMed Central
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8 September 2019
volume
9
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issue
8
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page(s)
e1003529
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copyright license
Creative Commons Attribution 4.0 International
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Europe PubMed Central
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8 September 2019
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Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans
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A competition between stimulators and antagonists of Upf complex recruitment governs human nonsense-mediated mRNA decay
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The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context
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The eukaryotic polypeptide chain releasing factor (eRF3/GSPT) carrying the translation termination signal to the 3'-Poly(A) tail of mRNA. Direct association of erf3/GSPT with polyadenylate-binding protein
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Quality control of gene expression: a stepwise assembly pathway for the surveillance complex that triggers nonsense-mediated mRNA decay
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Translational regulation of GCN4 and the general amino acid control of yeast
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Oxidative stress increases BACE1 protein levels through activation of the PKR-eIF2α pathway
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Mutation of ATF4 mediates resistance of neuronal cell lines against oxidative stress by inducing xCT expression.
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Autoregulation of the nonsense-mediated mRNA decay pathway in human cells
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Interaction of PABPC1 with the translation initiation complex is critical to the NMD resistance of AUG-proximal nonsense mutations.
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Translation reinitiation relies on the interaction between eIF3a/TIF32 and progressively folded cis-acting mRNA elements preceding short uORFs
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Phosphorylation of eIF2 facilitates ribosomal bypass of an inhibitory upstream ORF to enhance CHOP translation
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Expression proteomics of UPF1 knockdown in HeLa cells reveals autoregulation of hnRNP A2/B1 mediated by alternative splicing resulting in nonsense-mediated mRNA decay
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The h subunit of eIF3 promotes reinitiation competence during translation of mRNAs harboring upstream open reading frames
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Stress-sensitive regulation of IFRD1 mRNA decay is mediated by an upstream open reading frame
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Differential regulation of CHOP translation by phosphorylated eIF4E under stress conditions
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Translational control of protein kinase Ceta by two upstream open reading frames
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Evolutionary roles of upstream open reading frames in mediating gene regulation in fungi
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Human TRB3 is upregulated in stressed cells by the induction of translationally efficient mRNA containing a truncated 5'-UTR.
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The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?
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An upstream open reading frame regulates translation of GADD34 during cellular stresses that induce eIF2alpha phosphorylation
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Specificity of amino acid regulated gene expression: analysis of genes subjected to either complete or single amino acid deprivation
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The structure of the 5'-end of the protein-tyrosine phosphatase PTPRJ mRNA reveals a novel mechanism for translation attenuation
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Hypoxic inhibition of nonsense-mediated RNA decay regulates gene expression and the integrated stress response
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Regulation of translation via mRNA structure in prokaryotes and eukaryotes
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Activating transcription factor 4 is translationally regulated by hypoxic stress
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29 September 2017
Expression of the Alzheimer protease BACE1 is suppressed via its 5'-untranslated region
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29 September 2017
Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.
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Differential utilization of upstream AUGs in the beta-secretase mRNA suggests that a shunting mechanism regulates translation
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29 September 2017
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29 September 2017
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Upstream open reading frames as regulators of mRNA translation
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
29 September 2017
Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
29 September 2017
Initiation codons within 5'-leaders of mRNAs as regulators of translation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
29 September 2017
Growth control of translation in mammalian cells.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
29 September 2017
A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
2 June 2018
Complex translational regulation of BACE1 involves upstream AUGs and stimulatory elements within the 5' untranslated region
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
2 June 2018
Leaky scanning and reinitiation regulate BACE1 gene expression
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
2 June 2018
uAUG and uORFs in human and rodent 5'untranslated mRNAs
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
2 June 2018
Translational control by an upstream open reading frame in the HER-2/neu transcript
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
2 June 2018
Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
2 June 2018
The G→A Mutation at Position +22 31to the Cap Site of the β-Globin Gene as a Possible Cause for a β-Thalassemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
2 June 2018
An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
19 June 2018
Plant upstream ORFs can trigger nonsense-mediated mRNA decay in a size-dependent manner.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
uORFs, reinitiation and alternative translation start sites in human mRNAs
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Nonsense-mediated mRNA decay: target genes and functional diversification of effectors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Downstream control of upstream open reading frames
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
hUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Post-transcriptional regulation of the cystic fibrosis gene in cardiac development and hypertrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
The zipper model of translational control: a small upstream ORF is the switch that controls structural remodeling of an mRNA leader.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Mouse Atf5: molecular cloning of two novel mRNAs, genomic organization, and odorant sensory neuron localization.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Regulated translation of heparan sulfate N-acetylglucosamine N-deacetylase/n-sulfotransferase isozymes by structured 5'-untranslated regions and internal ribosome entry sites
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
A link between diabetes and atherosclerosis: Glucose regulates expression of CD36 at the level of translation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
A cluster of single nucleotide polymorphisms in the 5'-leader of the human dopamine D3 receptor gene (DRD3) and its relationship to schizophrenia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Role of two upstream open reading frames in the translational control of oncogene mdm2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patient.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738444
retrieved
27 November 2018
The molecular basis of familial hypercholesterolaemia in Turkish patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Regulation of internal ribosomal entry site-mediated translation by phosphorylation of the translation initiation factor eIF2alpha
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Regulated translation termination at the upstream open reading frame in s-adenosylmethionine decarboxylase mRNA
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythemia through a mechanism of more efficient translation of TPO mRNA
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Coagulation factor XII (FXII) activity, activated FXII, distribution of FXII C46T gene polymorphism and coronary risk
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A common genetic polymorphism (46 C to T substitution) in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Unstable β-globin mRNA in mRNA-deficient β0 thalassemia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Bioinformatic analysis of post-transcriptional regulation by uORF in human and mouse
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Familial thrombocytosis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23950723
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1371/JOURNAL.PGEN.1003529
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1240245
OpenCitations bibliographic resource ID
1240245
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1240245
PMCID
3738444
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1240245
PubMed ID
23950723
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1240245
ResearchGate publication ID
255959168
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