(Q37071684)

English

Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome

scientific article published on 18 February 2004

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome (English)

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

author name string

Maria Zeniou

1

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Renata Gattoni

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

André Hanauer

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

James Stévenin

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

language of work or name

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publication date

18 February 2004

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Nucleic Acids Research

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

32

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

1214-1223

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

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=373406

29 September 2017

Mechanisms of alternative pre-messenger RNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Pre-mRNA splicing and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Temperature-dependent splicing of beta-globin pre-mRNA.

1 reference

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29 September 2017

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer

1 reference

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29 September 2017

Splicing regulation at the second catalytic step by Sex-lethal involves 3' splice site recognition by SPF45

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Switch in 3' splice site recognition between exon definition and splicing catalysis is important for sex-lethal autoregulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Quality control of mRNA function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Alternative splicing of intron 3 of the serine/arginine-rich protein 9G8 gene. Identification of flanking exonic splicing enhancers and involvement of 9G8 as a trans-acting factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

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=373406

29 September 2017

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Mechanisms of mRNA surveillance in eukaryotes

1 reference

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29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Identification of a bidirectional splicing enhancer: differential involvement of SR proteins in 5' or 3' splice site activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

1 reference

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29 September 2017

Substrate specificities of SR proteins in constitutive splicing are determined by their RNA recognition motifs and composite pre-mRNA exonic elements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides

1 reference

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29 September 2017

The structure and function of proteins involved 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=373406

29 September 2017

SR proteins and splicing control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373406

29 September 2017

Scanning and competition between AGs are involved in 3' splice site selection in mammalian introns

1 reference

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A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.

1 reference

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The 216-nucleotide intron of the E1A pre-mRNA contains a hairpin structure that permits utilization of unusually distant branch acceptors

1 reference

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Cloning, expression, and transcriptional properties of the human enhancer factor TEF-1

1 reference

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29 September 2017

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

1 reference

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29 September 2017

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

1 reference

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A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

1 reference

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29 September 2017

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

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27 June 2018

Natural base-pairing interactions between 5' splice site and branch site sequences affect mammalian 5' splice site selection

1 reference

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Modulation of alternative splicing of adenoviral E1A transcripts: factors involved in the early-to-late transition

1 reference

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27 June 2018

The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome

1 reference

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27 June 2018

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon

1 reference

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

1 reference

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4 September 2018

Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.

1 reference

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4 September 2018

An RNA processing activity that debranches RNA lariats

1 reference

https://pubmed.ncbi.nlm.nih.gov/14973203

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The conserved dinucleotide AG of the 3' splice site may be recognized twice during in vitro splicing of mammalian mRNA precursors

1 reference

https://pubmed.ncbi.nlm.nih.gov/14973203

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/NAR/GKH272

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

release_vt6wdetbdrabzf55szm7s7enia

1 reference

https://api.fatcat.wiki/v0/release/vt6wdetbdrabzf55szm7s7enia

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

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