The Regulation of Splice-Site Selection, and Its Role in Human Disease (Q35249099)

7 August 2017

title

The regulation of splice-site selection, and its role in human disease (English)

1 reference

7 August 2017

The Regulation of Splice-Site Selection, and Its Role in Human Disease (English)

1 reference

17 November 2024

author name string

T. A. Cooper

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9311728

17 November 2024

W. Mattox

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9311728

17 November 2024

publication date

1 August 1997

1 reference

7 August 2017

August 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9311728

https://doi.org/10.1086/514856

17 November 2024

language of work or name

English

0 references

work available at URL

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9311728

https://europepmc.org/articles/PMC1715899

17 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9311728

https://europepmc.org/articles/PMC1715899?pdf=render

17 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9311728

https://api.elsevier.com/content/article/PII:S000292970764049X?httpAccept=text/xml

17 November 2024

1 reference

https://api.elsevier.com/content/article/PII:S000292970764049X?httpAccept=text/plain

17 November 2024

1 reference

American Journal of Human Genetics

17 November 2024

published in

1 reference

7 August 2017

volume

61

1 reference

7 August 2017

issue

2

1 reference

7 August 2017

page(s)

259-266

1 reference

publication type of scholarly work

7 August 2017

review article

1 reference

Embryonic Lethal Abnormal Visual RNA-Binding Proteins Involved in Growth, Differentiation, and Posttranscriptional Gene Expression

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1 reference

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Identification of a new class of exonic splicing enhancers by in vivo selection

12 July 2018

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The polyadenylation factor CstF-64 regulates alternative processing of IgM heavy chain pre-mRNA during B cell differentiation

12 July 2018

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The mammalian homolog of suppressor-of-white-apricot regulates alternative mRNA splicing of CD45 exon 4 and fibronectin IIICS

12 July 2018

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

12 July 2018

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Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection

12 July 2018

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A complex of nuclear proteins mediates SR protein binding to a purine-rich splicing enhancer

12 July 2018

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Muscle-specific splicing enhancers regulate inclusion of the cardiac troponin T alternative exon in embryonic skeletal muscle

12 July 2018

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Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.

12 July 2018

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Initial splice-site recognition and pairing during pre-mRNA splicing

12 July 2018

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SR proteins and splicing control

12 July 2018

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Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

12 July 2018

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The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element

12 July 2018

1 reference

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A splicing enhancer complex controls alternative splicing of doublesex pre-mRNA.

12 July 2018

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Regulated expression of exon v6 containing isoforms of CD44 in man: downregulation during malignant transformation of tumors of squamocellular origin

12 July 2018

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Two different sequence elements within exon 4 are necessary for calcitonin-specific splicing of the human calcitonin/calcitonin gene-related peptide I pre-mRNA.

12 July 2018

1 reference

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Polypurine sequences within a downstream exon function as a splicing enhancer

12 July 2018

1 reference

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Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.

12 July 2018

1 reference

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Conservation of regulated alternative splicing and identification of functional domains in vertebrate homologs to the Drosophila splicing regulator, suppressor-of-white-apricot

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715899

A novel bipartite splicing enhancer modulates the differential processing of the human fibronectin EDA exon

12 July 2018

1 reference

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The role of specific protein-RNA and protein-protein interactions in positive and negative control of pre-mRNA splicing by Transformer 2.

12 July 2018

1 reference

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A purine-rich exon sequence enhances alternative splicing of bovine growth hormone pre-mRNA.

12 July 2018

1 reference

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Smooth muscle-specific switching of alpha-tropomyosin mutually exclusive exon selection by specific inhibition of the strong default exon.

12 July 2018

1 reference

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Diverse mutations in patients with Menkes disease often lead to exon skipping

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715899

SWAP pre-mRNA splicing regulators are a novel, ancient protein family sharing a highly conserved sequence motif with the prp21 family of constitutive splicing proteins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715899

Regulation of alternative pre-mRNA splicing by a novel repeated hexanucleotide element

12 July 2018

1 reference

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Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing

12 July 2018

1 reference

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Exon recognition in vertebrate splicing

12 July 2018

1 reference

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The Drosophila SR protein RBP1 contributes to the regulation of doublesex alternative splicing by recognizing RBP1 RNA target sequences

12 July 2018

1 reference

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A Subset of SR Proteins Activates Splicing of the Cardiac Troponin T Alternative Exon by Direct Interactions with an Exonic Enhancer

12 July 2018

1 reference

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A 32-nucleotide exon-splicing enhancer regulates usage of competing 5' splice sites in a differential internal exon

12 July 2018

1 reference

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The superfamily of arginine/serine-rich splicing factors

12 July 2018

1 reference

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Selection of novel exon recognition elements from a pool of random sequences

12 July 2018

1 reference

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Identification and characterization of three members of the human SR family of pre-mRNA splicing factors

12 July 2018

1 reference

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When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

12 July 2018

1 reference

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Intrinsic U2AF binding is modulated by exon enhancer signals in parallel with changes in splicing activity

12 July 2018

1 reference

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Evidence that a regulatory gene autoregulates splicing of its transcript

12 July 2018

1 reference

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Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715899

Splicing of messenger RNA precursors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715899

Alternative processing of bovine growth hormone mRNA is influenced by downstream exon sequences

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715899

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

12 July 2018

1 reference

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Regulation of sexual differentiation in D. melanogaster via alternative splicing of RNA from the transformer gene

12 July 2018

1 reference

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Somatic reversion/suppression of the mouse mdx phenotype in vivo

12 July 2018

1 reference

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Systematic evolution of ligands by exponential enrichment: RNA ligands to bacteriophage T4 DNA polymerase

12 July 2018

1 reference

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A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA.

12 July 2018

1 reference

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Alternative splicing of beta-tropomyosin pre-mRNA: cis-acting elements and cellular factors that block the use of a skeletal muscle exon in nonmuscle cells

12 July 2018

1 reference

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Alternative splicing in the neural cell adhesion molecule pre-mRNA: regulation of exon 18 skipping depends on the 5'-splice site.

12 July 2018

1 reference

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A monoclonal antibody that recognizes a phosphorylated epitope stains lampbrush chromosome loops and small granules in the amphibian germinal vesicle

12 July 2018

1 reference

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CD44 is the principal cell surface receptor for hyaluronate

12 July 2018

1 reference

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Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers

12 July 2018

1 reference

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A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection

12 July 2018

1 reference

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Binding of the Drosophila transformer and transformer-2 proteins to the regulatory elements of doublesex primary transcript for sex-specific RNA processing

12 July 2018

1 reference

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

12 July 2018

1 reference

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Alternative splicing of neurofibromatosis type 1 gene transcript in malignant brain tumors: PCR analysis of frozen-section mRNA

12 July 2018

1 reference

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Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

12 July 2018

1 reference

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Alternative mRNA splicing

12 July 2018

1 reference

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Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

12 July 2018

1 reference

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The role of exon sequences in splice site selection

26 September 2018

1 reference

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Prevention of tumor metastasis formation by anti-variant CD44.

26 September 2018

1 reference

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Distinct functions of SR proteins in alternative pre-mRNA splicing

26 September 2018

1 reference

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Synergistic interactions between two distinct elements of a regulated splicing enhancer

26 September 2018

1 reference

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CD44 mediates human glioma cell adhesion and invasion in vitro.

26 September 2018

1 reference

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Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

26 September 2018

1 reference

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A role for exon sequences and splice-site proximity in splice-site selection

26 September 2018

1 reference

12 December 2020

Activation of c-src neuron-specific splicing by an unusual RNA element in vivo and in vitro

1 reference

12 December 2020

Expression of CD44R1 adhesion molecule in colon carcinomas and metastases

1 reference

12 December 2020

Coordinate oncodevelopmental modulation of alternative splicing of fibronectin pre-messenger RNA at ED-A, ED-B, and CS1 regions in human liver tumors

1 reference

12 December 2020

A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding

1 reference

12 December 2020

Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy

1 reference

12 December 2020

To metastasize or not? Selection of CD44 splice sites

1 reference

12 December 2020

A new variant of glycoprotein CD44 confers metastatic potential to rat carcinoma cells

18

1 reference

Assembly of specific SR protein complexes on distinct regulatory elements of the Drosophila doublesex splicing enhancer

17 November 2024

35

1 reference

Regulation of doublesex pre-mRNA processing occurs by 3'-splice site activation.

17 November 2024

49

1 reference

17 November 2024

Identifiers

DOI

10.1086/514856

1 reference

7 August 2017

1 reference

7 August 2017

1 reference