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English
Comment on 'Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease'
scientific article published on 07 March 2007
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
title
Comment on 'Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease'
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
author
Angela Inácio
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
Ana Luísa Silva
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
Ana Morgado
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
João Lavinha
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
Luísa Romão
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
author name string
Francisco J C Pereira
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
publication date
7 March 2007
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
published in
European Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
volume
15
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
page(s)
533-4; author reply 534
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
cites work
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201808
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201808
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201808
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/10.1038%2FSJ.EJHG.5201808
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201808
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201808
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201808
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201808
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leaky scanning and reinitiation regulate BACE1 gene expression
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201808
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201808
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201808
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/SJ.EJHG.5201808
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
PubMed publication ID
17342150
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17342150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17342150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 December 2019
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