(Q34921189)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Petr Divina

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Andrea Kvitkovicova

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Igor Vorechovsky

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

publication date

14 January 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

19 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

759-765

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.257

19 January 2020

exact match

0 references

cites work

Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

RNA landscape of evolution for optimal exon and intron discrimination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Pre-mRNA secondary structures influence exon recognition.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Inference of splicing regulatory activities by sequence neighborhood analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

General and specific functions of exonic splicing silencers in splicing control

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Position-dependent repression and promotion of DQB1 intron 3 splicing by GGGG motifs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Exon inclusion is dependent on predictable exonic splicing enhancers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

A combinatorial code for splicing silencing: UAGG and GGGG motifs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Systematic identification and analysis of exonic splicing silencers.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Computational definition of sequence motifs governing constitutive exon splicing.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

ESEfinder: A web resource to identify exonic splicing enhancers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Predictive identification of exonic splicing enhancers in human genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Determination of the RNA binding specificity of the heterogeneous nuclear ribonucleoprotein (hnRNP) H/H'/F/2H9 family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Selection and characterization of pre-mRNA splicing enhancers: identification of novel SR protein-specific enhancer sequences

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Improved splice site detection in Genie

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

The hnRNP F protein: unique primary structure, nucleic acid-binding properties, and subcellular localization

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

RNA binding specificity of hnRNP A1: significance of hnRNP A1 high-affinity binding sites in pre-mRNA splicing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

hnRNP 1, the polyprimidine tract-binding protein: distinct nuclear localization and association with hnRNAs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947103

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

8 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.257

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/10.1038%2FEJHG.2008.257

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.257

Comparative analysis detects dependencies among the 5' splice-site positions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.257

The organization of 3' splice-site sequences in mammalian introns

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19142208

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

SR proteins are 'locators' of the RNA splicing machinery

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19142208

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Alternative splicing of conserved exons is frequently species-specific in human and mouse

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19142208

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2008.257

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19142208%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference