(Q34625741)

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Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon

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scholarly article

1 reference

Europe PubMed Central

3 August 2017

Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon (English)

1 reference

Europe PubMed Central

3 August 2017

Emanuele Buratti

object named as

Emanuele Buratti

3

0 references

author name string

Silvia Spena

1

1 reference

Europe PubMed Central

3 August 2017

Maria Luisa Tenchini

2

1 reference

Europe PubMed Central

3 August 2017

language of work or name

0 references

publication date

12 April 2006

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

12

1 reference

Europe PubMed Central

3 August 2017

6

1 reference

Europe PubMed Central

3 August 2017

948-958

1 reference

Europe PubMed Central

3 August 2017

Chimeric peptide nucleic acid compounds modulate splicing of the bcl-x gene in vitro and in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Extended base pair complementarity between U1 snRNA and the 5' splice site does not inhibit splicing in higher eukaryotes, but rather increases 5' splice site recognition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Determinants of the inherent strength of human 5' splice sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

How did alternative splicing evolve?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Broad specificity of SR (serine/arginine) proteins in the regulation of alternative splicing of pre-messenger RNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Recessively inherited coagulation disorders.

1 reference

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7 July 2018

Molecular evolution: introns fall into place

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

A novel approach to describe a U1 snRNA binding site.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Intrinsic differences between authentic and cryptic 5' splice sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

The U1 snRNP protein U1C recognizes the 5' splice site in the absence of base pairing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

p68 RNA helicase is an essential human splicing factor that acts at the U1 snRNA-5' splice site duplex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Defining a 5' splice site by functional selection in the presence and absence of U1 snRNA 5' end.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Yeast U1 snRNP-pre-mRNA complex formation without U1snRNA-pre-mRNA base pairing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Arrangement of RNA and proteins in the spliceosomal U1 small nuclear ribonucleoprotein particle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Selection of alternative 5' splice sites: role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Sorting out the complexity of SR protein functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Multiple splicing defects in an intronic false exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Statistical features of human exons and their flanking regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

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Improved splice site detection in Genie

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Mechanisms for selecting 5' splice sites in mammalian pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

A novel bipartite splicing enhancer modulates the differential processing of the human fibronectin EDA exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

A conserved epitope on a subset of SR proteins defines a larger family of Pre-mRNA splicing factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

5' splice site selection in yeast: genetic alterations in base-pairing with U1 reveal additional requirements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

7 July 2018

A U1 snRNA:pre-mRNA base pairing interaction is required early in yeast spliceosome assembly but does not uniquely define the 5' cleavage site.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

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Identification of functional U1 snRNA-pre-mRNA complexes committed to spliceosome assembly and splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

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The essential pre-mRNA splicing factor SF2 influences 5' splice site selection by activating proximal sites.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

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Identification of a specific exon sequence that is a major determinant in the selection between a natural and a cryptic 5' splice site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

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An ATP-independent complex commits pre-mRNA to the mammalian spliceosome assembly pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

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Biochemical transfer of single-copy eucaryotic genes using total cellular DNA as donor

1 reference

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Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

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Exon junction sequences as cryptic splice sites: implications for intron origin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

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Correction of disease-associated exon skipping by synthetic exon-specific activators

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

1 reference

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Selection between a natural and a cryptic 5' splice site: a kinetic study of the effect of upstream exon sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464855

9 December 2018

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta -chain gene causing activation of cryptic splice sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/16611940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit β-globin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16611940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16611940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The U1 small nuclear RNA-protein complex selectively binds a 5' splice site in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/16611940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hierarchy for 5′ splice site preference determined in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/16611940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 Gright-arrowT

1 reference

https://pubmed.ncbi.nlm.nih.gov/16611940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SR proteins can compensate for the loss of U1 snRNP functions in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/16611940

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1261/RNA.2269306

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

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