Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes. (Q40196235)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

main subject

spinal muscular atrophy

1 reference

alternative mRNA splicing, via spliceosome

inferred from title

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

author name string

Natalia N Singh

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Ravindra N Singh

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

language of work or name

1 reference

14 December 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

published in

Nucleic Acids Research

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

volume

35

1 reference

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23 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

page(s)

371-389

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

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

23 December 2019

cites work

1 reference

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Position-dependent repression and promotion of DQB1 intron 3 splicing by GGGG motifs

22 September 2017

1 reference

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Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

22 September 2017

1 reference

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Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

22 September 2017

1 reference

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Specific sequence features, recognized by the SMN complex, identify snRNAs and determine their fate as snRNPs

22 September 2017

1 reference

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Statistical evidence for conserved, local secondary structure in the coding regions of eukaryotic mRNAs and pre-mRNAs

22 September 2017

1 reference

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

22 September 2017

1 reference

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RNA splicing manipulation: strategies to modify gene expression for a variety of therapeutic outcomes.

22 September 2017

1 reference

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Recruitment of the human TREX complex to mRNA during splicing

22 September 2017

1 reference

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Understanding alternative splicing: towards a cellular code

22 September 2017

1 reference

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A combinatorial code for splicing silencing: UAGG and GGGG motifs

22 September 2017

1 reference

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The regulation and regulatory activities of alternative splicing of the SMN gene

22 September 2017

1 reference

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Systematic identification and analysis of exonic splicing silencers.

22 September 2017

1 reference

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

22 September 2017

1 reference

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Multiple links between transcription and splicing

22 September 2017

1 reference

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p59(fyn)-mediated phosphorylation regulates the activity of the tissue-specific splicing factor rSLM-1

22 September 2017

1 reference

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

22 September 2017

1 reference

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In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

MAZ elements alter transcription elongation and silencing of the fibroblast growth factor receptor 2 exon IIIb

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

A conserved signal-responsive sequence mediates activation-induced alternative splicing of CD45.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

The spliceosome: the most complex macromolecular machine in the cell?

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Widespread selection for local RNA secondary structure in coding regions of bacterial genes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

ESEfinder: A web resource to identify exonic splicing enhancers

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Mechanisms of alternative pre-messenger RNA 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=1802598

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Heterogeneous nuclear ribonucleoprotein particle A/B proteins and the control of alternative splicing of the mammalian heterogeneous nuclear ribonucleoprotein particle A1 pre-mRNA.

22 September 2017

1 reference

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Predictive identification of exonic splicing enhancers in human genes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Alternative pre-mRNA splicing and proteome expansion in metazoans

22 September 2017

1 reference

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Messenger-RNA-binding proteins and the messages they carry

22 September 2017

1 reference

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Listening to silence and understanding nonsense: exonic mutations that affect 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=1802598

Identification of a cis-acting element for the regulation of SMN exon 7 splicing

22 September 2017

1 reference

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Integrating mRNA processing with transcription

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Comparison between CUUG and UUCG tetraloops: thermodynamic stability and structural features analyzed by UV absorption and vibrational spectroscopy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

The sequence complementarity between HIV-1 5' splice site SD4 and U1 snRNA determines the steady-state level of an unstable env pre-mRNA.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Conserved stem-loop structures in the HIV-1 RNA region containing the A3 3' splice site and its cis-regulatory element: possible involvement in RNA 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=1802598

An intronic splicing enhancer binds U1 snRNPs to enhance splicing and select 5' splice sites

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Sorting out the complexity of SR protein functions

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

The carboxyl terminus of vertebrate poly(A) polymerase interacts with U2AF 65 to couple 3'-end processing and 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=1802598

Isolation and characterization of thermodynamically stable and unstable RNA hairpins from a triloop combinatorial library

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

mRNAs have greater negative folding free energies than shuffled or codon choice randomized sequences

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Specific binding of an exonic splicing enhancer by the pre-mRNA splicing factor SRp55

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Functional association between promoter structure and transcript alternative 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=1802598

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

A specific RNA hairpin loop structure binds the RNA recognition motifs of the Drosophila SR protein B52

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

The exon sequence TAGG can inhibit 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=1802598

Short artificial hairpins sequester splicing signals and inhibit yeast pre-mRNA 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=1802598

Exon recognition in vertebrate 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=1802598

Identification and characterization of a spinal muscular atrophy-determining gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Exceptionally stable nucleic acid hairpins

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Characterization of RNA hairpin loop stability

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Improved predictions of secondary structures for RNA

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

HIV-1 Rev regulation involves recognition of non-Watson-Crick base pairs in viral RNA.

22 September 2017

1 reference

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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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Biochemical Mechanisms of Constitutive and Regulated Pre-mRNA 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=1802598

A thermodynamic study of unusually stable RNA and DNA hairpins

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Structural Features that Give Rise to the Unusual Stability of RNA Hairpins Containing GNRA Loops

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Thermodynamic parameters for loop formation in RNA and DNA hairpin tetraloops

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

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=1802598

Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

hnRNP A1 controls HIV-1 mRNA splicing through cooperative binding to intron and exon splicing silencers in the context of a conserved secondary structure

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Mutation of PTB binding sites causes misregulation of alternative 3' splice site selection in vivo

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

A highly stable duplex structure sequesters the 5' splice site region of hnRNP A1 alternative exon 7B.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

RNA secondary structure repression of a muscle-specific exon in HeLa cell nuclear extracts.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Novel modes of splicing repression by PTB.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

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=1802598

Stability of RNA hairpin loops closed by AU base pairs

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

A Non-sequence-specific double-stranded RNA structural element regulates splicing of two mutually exclusive exons of fibroblast growth factor receptor 2 (FGFR2).

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

5' splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802598

Promoter architecture modulates CFTR exon 9 skipping

20 August 2018

1 reference

12 December 2020

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

12 December 2020

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy

1 reference

12 December 2020

Spinal muscular atrophy: the RNP connection

1 reference

12 December 2020

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

12 December 2020

Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay

1 reference

12 December 2020

Tissue-specific splicing in vivo of the beta-tropomyosin gene: dependence on an RNA secondary structure

1 reference

12 December 2020

A native RNA secondary structure controls alternative splice-site selection and generates two human growth hormone isoforms

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/GKL1050

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17170000%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

PubMed publication ID

17170000

1 reference