(Q44879918)

7 December 2017

Alternative splicing in disease and therapy (English)

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alternative mRNA splicing, via spliceosome

7 December 2017

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inferred from title

author name string

Mariano A Garcia-Blanco

series ordinal

1

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PubMed ID

15122293

7 December 2017

Andrew P Baraniak

series ordinal

2

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PubMed ID

15122293

7 December 2017

Erika L Lasda

series ordinal

3

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7 December 2017

1 May 2004

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7 December 2017

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7 December 2017

22

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7 December 2017

535-546

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7 December 2017

5

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https://scigraph.springernature.com/pub.10.1038/nbt964

7 December 2017

0 references

cites work

The Sequence of the Human Genome

1 reference

7 January 2021

Initial sequencing and analysis of the human genome

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7 January 2021

The Phosphoryl Transfer Reactions in Pre-Messenger RNA Splicing

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7 January 2021

Pre-mRNA splicing: awash in a sea of proteins

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7 January 2021

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

1 reference

7 January 2021

Alternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and/or loss

1 reference

7 January 2021

Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays

1 reference

7 January 2021

How prevalent is functional alternative splicing in the human genome?

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7 January 2021

Assessing the impact of alternative splicing on domain interactions in the human proteome

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7 January 2021

Alternative splicing: multiple control mechanisms and involvement in human disease

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7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

7 January 2021

Pre-mRNA splicing and human disease

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7 January 2021

Cell-specific RNA-binding proteins in human disease

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7 January 2021

Intrinsic differences between authentic and cryptic 5' splice sites

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7 January 2021

Co-transcriptional splicing of pre-messenger RNAs: considerations for the mechanism of alternative splicing

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7 January 2021

Evolutionary fates and origins of U12-type introns.

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7 January 2021

A computational analysis of sequence features involved in recognition of short introns

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7 January 2021

Splicing double: insights from the second spliceosome

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7 January 2021

Predictive identification of exonic splicing enhancers in human genes

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7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

7 January 2021

Human genomic sequences that inhibit splicing

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7 January 2021

Sequence information for the splicing of human pre-mRNA identified by support vector machine classification

1 reference

7 January 2021

Exon recognition in vertebrate splicing

1 reference

7 January 2021

Extensive Exon Reshuffling Over Evolutionary Time Coupled to Trans-Splicing in Drosophila

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7 January 2021

Sorting out the complexity of SR protein functions

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7 January 2021

hnRNP A1 recruited to an exon in vivo can function as an exon splicing silencer

1 reference

7 January 2021

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

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7 January 2021

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

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7 January 2021

The RNA-binding protein TIA-1 is a novel mammalian splicing regulator acting through intron sequences adjacent to a 5' splice site

1 reference

7 January 2021

Multiple interdependent sequence elements control splicing of a fibroblast growth factor receptor 2 alternative exon

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7 January 2021

The protein Sex-lethal antagonizes the splicing factor U2AF to regulate alternative splicing of transformer pre-mRNA.

1 reference

7 January 2021

Sex-lethal autoregulation requires multiple cis-acting elements upstream and downstream of the male exon and appears to depend largely on controlling the use of the male exon 5' splice site

1 reference

7 January 2021

Multisite RNA binding and release of polypyrimidine tract binding protein during the regulation of c-src neural-specific splicing

1 reference

7 January 2021

Polypyrimidine tract binding protein antagonizes exon definition

1 reference

7 January 2021

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

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7 January 2021

An intronic sequence element mediates both activation and repression of rat fibroblast growth factor receptor 2 pre-mRNA splicing

1 reference

7 January 2021

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

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7 January 2021

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

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7 January 2021

Nonsense-mediated mRNA decay

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7 January 2021

The nonsense-mediated decay pathway and mutually exclusive expression of alternatively spliced FGFR2IIIb and -IIIc mRNAs

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7 January 2021

Quantification of alternatively spliced FGFR2 RNAs using the RNA invasive cleavage assay.

1 reference

7 January 2021

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

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7 January 2021

TIA-1 and TIAR activate splicing of alternative exons with weak 5' splice sites followed by a U-rich stretch on their own pre-mRNAs

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7 January 2021

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

7 January 2021

Exon switching and activation of stromal and embryonic fibroblast growth factor (FGF)-FGF receptor genes in prostate epithelial cells accompany stromal independence and malignancy

1 reference

7 January 2021

Beta + thalassemia: aberrant splicing results from a single point mutation in an intron.

1 reference

7 January 2021

Base substitution in an intervening sequence of a beta+-thalassemic human globin gene

1 reference

7 January 2021

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

1 reference

7 January 2021

Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia

1 reference

7 January 2021

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

1 reference

7 January 2021

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II

1 reference

7 January 2021

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

1 reference

7 January 2021

A muscleblind knockout model for myotonic dystrophy

1 reference

7 January 2021

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

1 reference

7 January 2021

Ischemia induces a translocation of the splicing factor tra2-beta 1 and changes alternative splicing patterns in the brain.

1 reference

7 January 2021

'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations

1 reference

7 January 2021

The phenotypic consequences of CFTR mutations

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7 January 2021

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

7 January 2021

Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells

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7 January 2021

Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.

1 reference

7 January 2021

Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens

1 reference

7 January 2021

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping

1 reference

7 January 2021

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens

1 reference

7 January 2021

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

1 reference

7 January 2021

Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

1 reference

7 January 2021

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing

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7 January 2021

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

1 reference

7 January 2021

Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs

1 reference

7 January 2021

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

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7 January 2021

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

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7 January 2021

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations

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7 January 2021

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

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7 January 2021

The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation

1 reference

7 January 2021

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

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7 January 2021

Splicing regulation as a potential genetic modifier

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7 January 2021

SCNM1, a putative RNA splicing factor that modifies disease severity in mice

1 reference

7 January 2021

Familial Frontotemporal Dementia: From Gene Discovery to Clinical Molecular Diagnostics

1 reference

7 January 2021

Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: identification as the microtubule-associated protein tau

1 reference

7 January 2021

Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease

1 reference

7 January 2021

Structure and novel exons of the human tau gene

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7 January 2021

The microtubule binding domain of tau protein.

1 reference

7 January 2021

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

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7 January 2021

Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.

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7 January 2021

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

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7 January 2021

Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Their relevance for understanding the neurogenerative process

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7 January 2021

Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex.

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7 January 2021

Effects on splicing and protein function of three mutations in codon N296 of tau in vitro

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7 January 2021

A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 +3-splice site mutation in the tau gene: clinical and pathological features

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7 January 2021

Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia.

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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

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7 January 2021

Complex regulation of tau exon 10, whose missplicing causes frontotemporal dementia.

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7 January 2021

Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17.

1 reference

7 January 2021

Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

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7 January 2021

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17

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7 January 2021

Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta

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7 January 2021

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.

1 reference

7 January 2021

The relevance of alternative RNA splicing to pharmacogenomics

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7 January 2021

Variants of cyclooxygenase-1 and their roles in medicine

1 reference

7 January 2021

COX-3, a cyclooxygenase-1 variant inhibited by acetaminophen and other analgesic/antipyretic drugs: cloning, structure, and expression

1 reference

7 January 2021

COX-3: a splice variant of cyclooxygenase-1 in mouse neural tissue and cells.

1 reference

7 January 2021

Inhibition of Prostaglandin Synthetase in Brain explains the Anti-pyretic Activity of Paracetamol (4-Acetamidophenol)

1 reference

7 January 2021

CD44v6: a target for antibody-based cancer therapy

1 reference

7 January 2021

Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes.

1 reference

7 January 2021

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

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7 January 2021

Treatment of spinal muscular atrophy by sodium butyrate

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7 January 2021

The histone deacetylase inhibitor valproic acid selectively induces proteasomal degradation of HDAC2

1 reference

7 January 2021

Pharmacologic induction of fetal hemoglobin: raising the therapeutic bar in sickle cell disease

1 reference

7 January 2021

New CNS-active drugs which are second-generation valproic acid: can they lead to the development of a magic bullet?

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7 January 2021

Catalytic topoisomerase II inhibitors in cancer therapy.

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7 January 2021

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

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7 January 2021

De novo ceramide regulates the alternative splicing of caspase 9 and Bcl-x in A549 lung adenocarcinoma cells. Dependence on protein phosphatase-1.

1 reference

7 January 2021

Differential recruitment of nuclear receptor coactivators may determine alternative RNA splice site choice in target genes

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7 January 2021

Progress in antisense technology.

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7 January 2021

Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing

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7 January 2021

Inhibition of Rous sarcoma virus replication and cell transformation by a specific oligodeoxynucleotide

1 reference

7 January 2021

Inhibition of Rous sarcoma viral RNA translation by a specific oligodeoxyribonucleotide

1 reference

7 January 2021

Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients

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7 January 2021

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

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7 January 2021

High-level expression of hemoglobin A in human thalassemic erythroid progenitor cells following lentiviral vector delivery of an antisense snRNA.

1 reference

7 January 2021

Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs

1 reference

7 January 2021

Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells

1 reference

7 January 2021

Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides

1 reference

7 January 2021

Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides

1 reference

7 January 2021

Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides.

1 reference

7 January 2021

Induction of endogenous Bcl-xS through the control of Bcl-x pre-mRNA splicing by antisense oligonucleotides

1 reference

7 January 2021

Peptide nucleic acids are potent modulators of endogenous pre-mRNA splicing of the murine interleukin-5 receptor-alpha chain

1 reference

7 January 2021

Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17.

1 reference

7 January 2021

Systemically delivered antisense oligomers upregulate gene expression in mouse tissues

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7 January 2021

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

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7 January 2021

Reprogramming Alternative Pre-messenger RNA Splicing through the Use of Protein-binding Antisense Oligonucleotides

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7 January 2021

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

1 reference

7 January 2021

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

1 reference

7 January 2021

Arginine/serine-rich domains of SR proteins can function as activators of pre-mRNA splicing.

1 reference

7 January 2021

A systematic analysis of the factors that determine the strength of pre-mRNA splicing enhancers.

1 reference

7 January 2021

Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?

1 reference

7 January 2021

Response to Buratti et al.: Can a ‘patch’ in a skipped exon make the pre-mRNA splicing machine run better?

1 reference

7 January 2021

Putting some spine into alternative splicing

1 reference

7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

1 reference

7 January 2021

The survival motor neuron protein in spinal muscular atrophy

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7 January 2021

Modification of alternative splicing by antisense oligonucleotides as a potential chemotherapy for cancer and other diseases

1 reference

7 January 2021

Local gene knockdown in the brain using viral-mediated RNA interference.

1 reference

7 January 2021

Killing the messenger: short RNAs that silence gene expression

1 reference

7 January 2021

Small RNA: can RNA interference be exploited for therapy?

1 reference

7 January 2021

Exon-specific RNAi: a tool for dissecting the functional relevance of alternative splicing

1 reference

7 January 2021

Messenger RNA reprogramming by spliceosome-mediated RNA trans-splicing

1 reference

7 January 2021

Emerging clinical applications of RNA

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7 January 2021

Spliceosome-mediated RNA trans-splicing as a tool for gene therapy

1 reference

7 January 2021

Partial correction of endogenous DeltaF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing

1 reference

7 January 2021

Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing

1 reference

7 January 2021

Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing

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7 January 2021

RNA repair: a novel approach to gene therapy

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7 January 2021

Functional repair of a mutant chloride channel using a trans-splicing ribozyme

1 reference

7 January 2021

An archaeal endoribonuclease catalyzes cis- and trans- nonspliceosomal splicing in mouse cells

1 reference

7 January 2021

Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice

1 reference

7 January 2021

Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy

1 reference

7 January 2021

TLS-ERG leukemia fusion protein inhibits RNA splicing mediated by serine-arginine proteins

1 reference

7 January 2021

Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma

1 reference

7 January 2021

Alzheimer's disease-like phosphorylation of the microtubule-associated protein tau by glycogen synthase kinase-3 in transfected mammalian cells.

1 reference

7 January 2021

Glycogen synthase kinase-3 plays a crucial role in tau exon 10 splicing and intranuclear distribution of SC35. Implications for Alzheimer's disease

1 reference

7 January 2021

Induced HMGA1a expression causes aberrant splicing of Presenilin-2 pre-mRNA in sporadic Alzheimer's disease

1 reference

7 January 2021

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

1 reference

7 January 2021

Nova, the paraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system

1 reference

7 January 2021

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

1 reference

7 January 2021

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

1 reference

7 January 2021

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

1 reference

7 January 2021

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

1 reference

7 January 2021

A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis

1 reference

7 January 2021

RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing

1 reference

7 January 2021

Novel nuclear autoantigen with splicing factor motifs identified with antibody from hepatocellular carcinoma

1 reference

7 January 2021

Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma

1 reference

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

7 January 2021

p63α Mutations Lead to Aberrant Splicing of Keratinocyte Growth Factor Receptor in the Hay-Wells Syndrome

1 reference

7 January 2021

SMN2-deletion in childhood-onset spinal muscular atrophy

1 reference

7 January 2021

Identifiers

DOI

10.1038/NBT964

1 reference

7 December 2017

1 reference

PubMed ID

15122293