(Q58454175)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617876%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Complexities of 5'splice site definition: implications in clinical analyses (English)

1 reference

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2 February 2020

3

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2 February 2020

author name string

Laura De Conti

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617876%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Natasa Skoko

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617876%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Marco Baralle

series ordinal

4

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2 February 2020

publication date

23 May 2012

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2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617876%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

9

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617876%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

911-923

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2 February 2020

issue

6

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Are snRNPs involved in splicing?

2 February 2020

cites work

1 reference

A mechanism for RNA splicing

21 January 2018

1 reference

Novel roles of U1 snRNP in alternative splicing regulation

21 January 2018

1 reference

The spliceosome: design principles of a dynamic RNP machine

21 January 2018

1 reference

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

21 January 2018

1 reference

Mechanisms of alternative pre-messenger RNA splicing

21 January 2018

1 reference

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

21 January 2018

1 reference

Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

21 January 2018

1 reference

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

21 January 2018

1 reference

Epigenetics in alternative pre-mRNA splicing

21 January 2018

1 reference

Cellular stress and RNA splicing

21 January 2018

1 reference

Signals, pathways and splicing regulation

21 January 2018

1 reference

Alternative splicing: global insights

21 January 2018

1 reference

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

21 January 2018

1 reference

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

21 January 2018

1 reference

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

21 January 2018

1 reference

Splicing in action: assessing disease causing sequence changes

21 January 2018

1 reference

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

21 January 2018

1 reference

Analyzing mechanisms of alternative pre-mRNA splicing using in vitro splicing assays.

21 January 2018

1 reference

Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.

21 January 2018

1 reference

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

Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?

21 January 2018

1 reference

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

21 January 2018

1 reference

SR proteins in vertical integration of gene expression from transcription to RNA processing to translation

21 January 2018

1 reference

Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

21 January 2018

1 reference

U1-independent pre-mRNA splicing contributes to the regulation of alternative splicing

21 January 2018

1 reference

Exon definition complexes contain the tri-snRNP and can be directly converted into B-like precatalytic splicing complexes

21 January 2018

1 reference

Compensatory signals associated with the activation of human GC 5' splice sites

21 January 2018

1 reference

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

21 January 2018

1 reference

Intrinsic differences between authentic and cryptic 5' splice sites

21 January 2018

1 reference

Detection and evaluation of intron retention events in the human transcriptome.

21 January 2018

1 reference

An intronic mutation causes long QT syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Another step forward for SELEXive splicing.

21 January 2018

1 reference

A new bioinformatics analysis tools framework at EMBL-EBI.

21 January 2018

1 reference

Clustal W and Clustal X version 2.0

21 January 2018

1 reference

Complex splicing control of the human Thrombopoietin gene by intronic G runs

21 January 2018

1 reference

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

21 January 2018

1 reference

The U1 snRNP-associated factor Luc7p affects 5' splice site selection in yeast and human

21 January 2018

1 reference

The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5' splice sites

21 January 2018

1 reference

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

21 January 2018

1 reference

The C-terminal region of hPrp8 interacts with the conserved GU dinucleotide at the 5' splice site

21 January 2018

1 reference

Dephosphorylated SRp38 acts as a splicing repressor in response to heat shock

21 January 2018

1 reference

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.

21 January 2018

1 reference

Exon recognition in vertebrate splicing

21 January 2018

1 reference

The architecture of pre-mRNAs affects mechanisms of splice-site pairing.

21 January 2018

1 reference

Polypyrimidine tract binding protein controls the transition from exon definition to an intron defined spliceosome

21 January 2018

1 reference

Sequence features responsible for intron retention in human

21 January 2018

1 reference

Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

21 January 2018

1 reference

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

21 January 2018

1 reference

The splicing factors 9G8 and SRp20 transactivate splicing through different and specific enhancers.

21 January 2018

1 reference

WebLogo: A Sequence Logo Generator

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.4161/RNA.20386

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617876%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference