RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events (Q40117572)

17 September 2017

RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events (English)

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17 September 2017

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17 September 2017

Ashish Dhir

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17 September 2017

Marzena A Lewandowska

series ordinal

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17 September 2017

Francisco E Baralle

series ordinal

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17 September 2017

language of work or name

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18 June 2007

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17 September 2017

Nucleic Acids Research

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17 September 2017

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17 September 2017

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17 September 2017

4369-4383

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describes a project that uses

17 September 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1935003/fullTextXML

inferred from PubMed Central ID database lookup

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22 September 2017

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22 September 2017

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22 September 2017

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Evidence for selection on synonymous mutations affecting stability of mRNA secondary structure in mammals

22 September 2017

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22 September 2017

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22 September 2017

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Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer.

22 September 2017

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22 September 2017

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Alu-SINE exonization: en route to protein-coding function

22 September 2017

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Ultraconserved elements in insect genomes: a highly conserved intronic sequence implicated in the control of homothorax mRNA splicing

22 September 2017

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Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

22 September 2017

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

22 September 2017

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Identification of regulatory cis-acting elements for alternative splicing of presenilin 2 exon 5 under hypoxic stress conditions

22 September 2017

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22 September 2017

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22 September 2017

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22 September 2017

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Minimal conditions for exonization of intronic sequences: 5' splice site formation in alu exons

22 September 2017

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Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

22 September 2017

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

22 September 2017

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A stem structure in fibroblast growth factor receptor 2 transcripts mediates cell-type-specific splicing by approximating intronic control elements

22 September 2017

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Compensatory evolution of a precursor messenger RNA secondary structure in the Drosophila melanogaster Adh gene

22 September 2017

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22 September 2017

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Conserved sequence elements associated with exon skipping

22 September 2017

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Mechanisms of alternative pre-messenger RNA splicing

22 September 2017

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An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA.

22 September 2017

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

22 September 2017

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Alternative splicing: multiple control mechanisms and involvement in human disease

22 September 2017

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22 September 2017

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Multiple splicing defects in an intronic false exon

22 September 2017

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Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure

22 September 2017

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Genome-wide bioinformatic and molecular analysis of introns in Saccharomyces cerevisiae

22 September 2017

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Intron self-complementarity enforces exon inclusion in a yeast pre-mRNA

22 September 2017

1 reference

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Short artificial hairpins sequester splicing signals and inhibit yeast pre-mRNA splicing

22 September 2017

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Interactions between the terminal bases of mammalian introns are retained in inosine-containing pre-mRNAs

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Silencer elements as possible inhibitors of pseudoexon splicing

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Mutually exclusive splicing of the insect Dscam pre-mRNA directed by competing intronic RNA secondary structures

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Dichotomous splicing signals in exon flanks

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Improved Splice Site Detection in Genie

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Analysis of donor splice sites in different eukaryotic organisms

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Autoregulation of the mRNA export factor Yra1p requires inefficient splicing of its pre-mRNA.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

An apparent pseudo-exon acts both as an alternative exon that leads to nonsense-mediated decay and as a zero-length exon

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

An analysis on gene architecture in human and mouse genomes.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Alternative splicing of type II procollagen exon 2 is regulated by the combination of a weak 5' splice site and an adjacent intronic stem-loop cis element

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Evidence for the regulation of alternative splicing via complementary DNA sequence repeats

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Mapping of conserved RNA secondary structures predicts thousands of functional noncoding RNAs in the human genome

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1935003

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

20 August 2018

1 reference

12 December 2020

Splice site selection and ribonucleoprotein complex assembly during in vitro pre-mRNA splicing

1 reference

12 December 2020

Effects of RNA secondary structure on alternative splicing of Pre-mRNA: Is folding limited to a region behind the transcribing RNA polymerase?

1 reference

12 December 2020

Evidence for Purifying Selection Against Synonymous Mutations in Mammalian Exonic Splicing Enhancers

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/GKM447

1 reference

17 September 2017

1 reference

17 September 2017

PubMed publication ID

17580311

1 reference