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A meta-analysis of nonsense mutations causing human genetic disease.
scientific article published in August 2008
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
title
A meta-analysis of nonsense mutations causing human genetic disease.
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
main subject
meta-analysis
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author
Dobril Ivanov
series ordinal
2
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Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
David N. Cooper
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3
1 reference
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Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
Nadia Chuzhanova
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4
1 reference
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Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
Matthew Mort
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Matthew Mort
1 reference
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Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
publication date
1 August 2008
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Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
published in
Human Mutation
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stated in
Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
volume
29
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
issue
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
page(s)
1037-1047
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
cites work
Aberrant termination triggers nonsense-mediated mRNA decay
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7 January 2021
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Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?
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5' contexts of Escherichia coli and human termination codons are similar.
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7 January 2021
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mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons.
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
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UAG readthrough in mammalian cells: effect of upstream and downstream stop codon contexts reveal different signals
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7 January 2021
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The nonsense-mediated decay RNA surveillance pathway
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Crossref
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7 January 2021
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CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes.
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Comparison of characteristics and function of translation termination signals between and within prokaryotic and eukaryotic organisms
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DAVID: Database for Annotation, Visualization, and Integrated Discovery
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Combining models of protein translation and population genetics to predict protein production rates from codon usage patterns.
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Crossref
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7 January 2021
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COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
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Identifying biological themes within lists of genes with EASE
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Analysis of the Frequent R1141X Mutation in theABCC6Gene in Pseudoxanthoma Elasticum
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
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Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.
1 reference
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Crossref
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7 January 2021
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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
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Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function
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7 January 2021
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Transterm: a database of mRNAs and translational control elements.
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Crossref
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7 January 2021
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Translational readthrough induction of pathogenic nonsense mutations
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
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7 January 2021
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Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes
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7 January 2021
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Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges
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7 January 2021
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Hypermethylation of the Wilms' tumor suppressor gene CpG island in human breast carcinomas
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7 January 2021
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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics
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Crossref
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7 January 2021
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inferred from DOI database lookup
Translational termination efficiency in mammals is influenced by the base following the stop codon.
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
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inferred from DOI database lookup
Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA.
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
based on heuristic
inferred from DOI database lookup
A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Codon usage tabulated from international DNA sequence databases: status for the year 2000
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
based on heuristic
inferred from DOI database lookup
Impact of the six nucleotides downstream of the stop codon on translation termination
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
based on heuristic
inferred from DOI database lookup
Deriving quantitative conclusions from microarray expression data
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
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Comprehensive sequence analysis of translation termination sites in various eukaryotes.
1 reference
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Crossref
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7 January 2021
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Epigenetic reprogramming in mammalian development
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7 January 2021
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Sequence logos: a new way to display consensus sequences
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
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Human Gene Mutation Database (HGMD): 2003 update
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
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The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD).
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
based on heuristic
inferred from DOI database lookup
Relationships among stop codon usage bias, its context, isochores, and gene expression level in various eukaryotes.
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Translational termination efficiency in both bacteria and mammals is regulated by the base following the stop codon
1 reference
stated in
Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
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inferred from DOI database lookup
The translational stop signal: codon with a context, or extended factor recognition element?
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
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inferred from DOI database lookup
Genetic insights into the clinical diversity of beta thalassaemia
1 reference
stated in
Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20763
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7 January 2021
based on heuristic
inferred from DOI database lookup
Hypermethylation of CpG islands in primary and metastatic human prostate cancer.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20763
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20763
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.20763
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
PubMed publication ID
18454449
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18454449
retrieved
10 May 2018
reference URL
http://europepmc.org/abstract/MED/18454449
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