(Q39873966)

English

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

scientific article published on May 2009

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scholarly article

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23 January 2020

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19280650%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Julian A Zagalak

3

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23 January 2020

6

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23 January 2020

author name string

David Meili

1

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23 January 2020

Jana Kralovicova

2

1 reference

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23 January 2020

Luisa Bonafé

4

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23 January 2020

Laura Fiori

5

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23 January 2020

Beat Thöny

7

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23 January 2020

Igor Vorechovsky

8

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23 January 2020

publication date

1 May 2009

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23 January 2020

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23 January 2020

30

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23 January 2020

823-831

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23 January 2020

5

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23 January 2020

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

The RNA splicing factor hSlu7 is required for correct 3' splice-site choice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

hnRNP A1 and the SR proteins ASF/SF2 and SC35 have antagonistic functions in splicing of beta-tropomyosin exon 6B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

The SR splicing factors ASF/SF2 and SC35 have antagonistic effects on intronic enhancer-dependent splicing of the beta-tropomyosin alternative exon 6A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Positive selection acting on splicing motifs reflects compensatory evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Biased exon/intron distribution of cryptic and de novo 3' splice sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Functional persistence of exonized mammalian-wide interspersed repeat elements (MIRs)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Finding signals that regulate alternative splicing in the post-genomic era

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

The birth of an alternatively spliced exon: 3' splice-site selection in Alu exons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Alu sequences in the coding regions of mRNA: a source of protein variability.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

SR proteins and splicing control

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Understanding alternative splicing: towards a cellular code

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

PUF60: a novel U2AF65-related splicing activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Comparative analysis of transposed element insertion within human and mouse genomes reveals Alu's unique role in shaping the human transcriptome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

RS domains contact splicing signals and promote splicing by a common mechanism in yeast through humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Arginine-serine-rich domains bound at splicing enhancers contact the branchpoint to promote prespliceosome assembly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

From "junk" to gene: curriculum vitae of a primate receptor isoform gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

A genome-wide association study identifies novel risk loci for type 2 diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

The origin of interspersed repeats in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

The birth of new exons: mechanisms and evolutionary consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Alu-containing exons are alternatively spliced

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Tetrahydrobiopterin biosynthesis, regeneration and functions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Short interspersed elements (SINEs) are a major source of canine genomic diversity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Systematic identification and analysis of exonic splicing silencers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Exonic splicing enhancers in fission yeast: functional conservation demonstrates an early evolutionary origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Autoregulation of polypyrimidine tract binding protein by alternative splicing leading to nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Identification, purification, and biochemical characterization of U2 small nuclear ribonucleoprotein auxiliary factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Computational definition of sequence motifs governing constitutive exon splicing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Comparison of multiple vertebrate genomes reveals the birth and evolution of human exons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

21 January 2018

Genetic selection for balanced retroviral splicing: novel regulation involving the second step can be mediated by transitions in the polypyrimidine tract

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and purification of a 62,000-dalton protein that binds specifically to the polypyrimidine tract of introns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

7 January 2021

based on heuristic

inferred from DOI database lookup

SR proteins are 'locators' of the RNA splicing machinery

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

7 January 2021

based on heuristic

inferred from DOI database lookup

Branch site haplotypes that control alternative splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

7 January 2021

based on heuristic

inferred from DOI database lookup

SR proteins: a foot on the exon before the transition from intron to exon definition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20969

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20969

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19280650%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19280650%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

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