(Q24524120)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Michela Raponi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Francisco E Baralle

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

language of work or name

English

0 references

publication date

19 April 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

10 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

6368-6372

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

10 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Mechanisms of alternative pre-messenger RNA splicing

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Selection on Human Genes as Revealed by Comparisons to Chimpanzee cDNA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Molecular phylogenetics and the origins of placental mammals

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Comparative analyses of multi-species sequences from targeted genomic regions

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Pre-mRNA splicing and human disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Predictive identification of exonic splicing enhancers in human genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Listening to silence and understanding nonsense: exonic mutations that affect splicing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Systematic identification and analysis of exonic splicing silencers.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Influence of RNA secondary structure on the pre-mRNA splicing process

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Variation in sequence and organization of splicing regulatory elements in vertebrate genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Genomic variants in exons and introns: identifying the splicing spoilers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Computational definition of sequence motifs governing constitutive exon splicing.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

A new type of mutation causes a splicing defect in ATM.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

SR proteins and hnRNP H regulate the splicing of the HIV-1 tev-specific exon 6D.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Identification of a new class of exonic splicing enhancers by in vivo selection

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

A role for exon sequences in alternative splicing of the human fibronectin gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1088389

Alternative splicing in disease and therapy

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0502288102

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0502288102

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0502288102

How neutral are synonymous codon mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0502288102

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0502288102

A maximum likelihood method for analyzing pseudogene evolution: implications for silent site evolution in humans and rodents

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0502288102

Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0502288102

A role for exon sequences and splice-site proximity in splice-site selection

21 January 2018

1 reference

12 December 2020

Evidence for purifying selection acting on silent sites in BRCA1

1 reference

12 December 2020

Purifying selection on silent sites -- a constraint from splicing regulation?

1 reference

12 December 2020

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease

1 reference

12 December 2020

Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels

1 reference

12 December 2020

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

1 reference

12 December 2020

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

12 December 2020

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0502288102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

10 January 2020

ADS bibcode

2005PNAS..102.6368P

0 references

1204139

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1204139

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

PubMed publication ID

15840711

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840711%20AND%20SRC:MED&resulttype=core&format=json