Alternative splicing: multiple control mechanisms and involvement in human disease (Q34586931)

3 August 2017

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title

Alternative splicing: multiple control mechanisms and involvement in human disease (English)

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alternative mRNA splicing, via spliceosome

3 August 2017

main subject

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Alberto R Kornblihtt

2

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ORCID Public Data File 2021

author name string

Javier F Cáceres

series ordinal

1

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3 August 2017

publication date

1 April 2002

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3 August 2017

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3 August 2017

volume

18

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3 August 2017

issue

4

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3 August 2017

page(s)

186-193

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Protein diversity from alternative splicing: a challenge for bioinformatics and post-genome biology

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Alternative splicing: increasing diversity in the proteomic world

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

The structure and function of proteins involved in mammalian pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

hnRNP proteins and the biogenesis of mRNA

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Alternative pre-mRNA splicing: the logic of combinatorial control

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Exon recognition in vertebrate splicing

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Sorting out the complexity of SR protein functions

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Determinants of SR protein specificity.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Specific interactions between proteins implicated in splice site selection and regulated alternative splicing

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

The A1 and A1B proteins of heterogeneous nuclear ribonucleoparticles modulate 5' splice site selection in vivo

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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/10.1016/S0168-9525(01)02626-9

7 January 2021

The splicing factor SRp20 modifies splicing of its own mRNA and ASF/SF2 antagonizes this regulation

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Selection of alternative 5' splice sites: role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

An intron element modulating 5' splice site selection in the hnRNP A1 pre-mRNA interacts with hnRNP A1.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Multiple interactions between SRm160 and SR family proteins in enhancer-dependent splicing and development of C. elegans

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Pre-mRNA splicing in the new millennium

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Exon Identity Established through Differential Antagonism between Exonic Splicing Silencer-Bound hnRNP A1 and Enhancer-Bound SR Proteins

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Distinct functions of SR proteins in alternative pre-mRNA splicing.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Targeted disruption of an essential vertebrate gene: ASF/SF2 is required for cell viability

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Blastocyst formation is blocked in mouse embryos lacking the splicing factor SRp20.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

SC35 plays a role in T cell development and alternative splicing of CD45.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

The SR protein B52/SRp55 is essential for Drosophila development

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Genetic enhancement of RNA-processing defects by a dominant mutation in B52, the Drosophila gene for an SR protein splicing factor.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Pre-mRNA splicing by the essential Drosophila protein B52: tissue and target specificity

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Functional characterization of SR and SR-related genes in Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Unique and redundant functions of SR proteins, a conserved family of splicing factors, in Caenorhabditis elegans development

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https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Post-transcriptional regulation: the dawn of PTB.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Differential alternative splicing activity of isoforms of polypyrimidine tract binding protein (PTB).

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Alternative RNA splicing in the nervous system

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

A sequence compilation and comparison of exons that are alternatively spliced in neurons

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

A brain-enriched polypyrimidine tract-binding protein antagonizes the ability of Nova to regulate neuron-specific alternative splicing

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Cooperative assembly of an hnRNP complex induced by a tissue-specific homolog of polypyrimidine tract binding protein

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Coupling RNA polymerase II transcription with pre-mRNA processing

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Connecting transcription to messenger RNA processing

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https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

The dynamics of a pre-mRNA splicing factor in living cells

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https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

RNA polymerase II targets pre-mRNA splicing factors to transcription sites in vivo

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https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

The C-terminal domain of RNA polymerase II couples mRNA processing to transcription

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https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Functional association between promoter structure and transcript alternative splicing.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Coupling of transcription with alternative splicing: RNA pol II promoters modulate SF2/ASF and 9G8 effects on an exonic splicing enhancer

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

A novel transcriptional coactivator, p52, functionally interacts with the essential splicing factor ASF/SF2

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

A human papillomavirus E2 transcriptional activator. The interactions with cellular splicing factors and potential function in pre-mRNA processing

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

WT1 interacts with the splicing factor U2AF65 in an isoform-dependent manner and can be incorporated into spliceosomes

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Direct coupling of transcription and mRNA processing through the thermogenic coactivator PGC-1

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

SAF-B protein couples transcription and pre-mRNA splicing to SAR/MAR elements

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

The splicing factor, Prp40, binds the phosphorylated carboxyl-terminal domain of RNA polymerase II.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Phosphorylation of RNA polymerase II CTD fragments results in tight binding to the WW domain from the yeast prolyl isomerase Ess1.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Protein-interaction modules that organize nuclear function: FF domains of CA150 bind the phosphoCTD of RNA polymerase II

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

The C-terminal domain of the largest subunit of RNA polymerase II interacts with a novel set of serine/arginine-rich proteins

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

A nuclear matrix protein interacts with the phosphorylated C-terminal domain of RNA polymerase II.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Antagonistic effects of T-Ag and VP16 reveal a role for RNA pol II elongation on alternative splicing

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Effects of RNA secondary structure on alternative splicing of Pre-mRNA: Is folding limited to a region behind the transcribing RNA polymerase?

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Co-transcriptional commitment to alternative splice site selection.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Quality control of mRNA function

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Coupled transcription and translation within nuclei of mammalian cells.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

A BRCA1 Nonsense Mutation Causes Exon Skipping

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(01)02626-9

7 January 2021

10.1016/S0168-9525(01)02626-9

Identifiers

DOI

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release_nczci3msyvdbhpmus2yuvwgswy

3 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nczci3msyvdbhpmus2yuvwgswy

24 November 2022

mapped directly with Wikidata item

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