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English
Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
scientific article published on 01 August 1997
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
title
Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
main subject
Marfan syndrome
1 reference
based on heuristic
inferred from title
author name string
W Liu
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
C Qian
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
U Francke
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
publication date
1 August 1997
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
volume
16
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
page(s)
328-329
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
exact match
https://scigraph.springernature.com/pub.10.1038/ng0897-328
0 references
cites work
Initial splice-site recognition and pairing during pre-mRNA splicing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
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Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
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TGF-beta 1 binding protein: a component of the large latent complex of TGF-beta 1 with multiple repeat sequences
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Selection of novel exon recognition elements from a pool of random sequences
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The skipping of constitutive exons in vivo induced by nonsense mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
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Excision of an intact intron as a novel lariat structure during pre-mRNA splicing in vitro
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
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Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Translation is enhanced after silent nucleotide substitutions in A+T- rich sequences of the coding region of CD46 cDNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0897-328
retrieved
7 January 2021
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inferred from DOI database lookup
Identifiers
DOI
10.1038/NG0897-328
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
PubMed ID
9241263
1 reference
stated in
Europe PubMed Central
PubMed ID
9241263
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
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