Listening to silence and understanding nonsense: exonic mutations that affect splicing (Q29618493)

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30 April 2017

Cartegni L

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11967553

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11967553

30 April 2017

Chew SL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11967553

30 April 2017

Krainer AR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11967553

30 April 2017

language of work or name

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30 April 2017

publication date

April 2002

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30 April 2017

published in

Nature Reviews Genetics

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30 April 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11967553

30 April 2017

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30 April 2017

page(s)

285-98

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11967553

Spliceosomal UsnRNP biogenesis, structure and function

30 April 2017

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Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

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

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

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Polypurine sequences within a downstream exon function as a splicing enhancer

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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

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The role of exon sequences in splice site selection.

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SR proteins promote the first specific recognition of Pre-mRNA and are present together with the U1 small nuclear ribonucleoprotein particle in a general splicing enhancer complex

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

31 March 2020

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In vitro selection of exonic splicing enhancer sequences: identification of novel CD44 enhancers

31 March 2020

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

31 March 2020

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Selection and characterization of pre-mRNA splicing enhancers: identification of novel SR protein-specific enhancer sequences

31 March 2020

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Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

31 March 2020

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The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificities

31 March 2020

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Human genomic sequences that inhibit splicing

31 March 2020

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

31 March 2020

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Presence of exon splicing silencers within human immunodeficiency virus type 1 tat exon 2 and tat-rev exon 3: evidence for inhibition mediated by cellular factors

31 March 2020

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Identification of positive and negative splicing regulatory elements within the terminal tat-rev exon of human immunodeficiency virus type 1.

31 March 2020

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A pyrimidine-rich exonic splicing suppressor binds multiple RNA splicing factors and inhibits spliceosome assembly

31 March 2020

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

31 March 2020

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An exonic splicing silencer in the testes-specific DNA ligase III beta exon

31 March 2020

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Alternative pre-mRNA splicing: the logic of combinatorial control

31 March 2020

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Polypyrimidine tract binding protein antagonizes exon definition

31 March 2020

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hnRNP proteins and the biogenesis of mRNA

31 March 2020

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hnRNP complexes: composition, structure, and function

31 March 2020

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Binding of hnRNP H to an exonic splicing silencer is involved in the regulation of alternative splicing of the rat beta-tropomyosin gene

31 March 2020

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Modulation of exon skipping by high-affinity hnRNP A1-binding sites and by intron elements that repress splice site utilization

31 March 2020

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Directing alternative splicing: cast and scenarios

31 March 2020

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

31 March 2020

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

31 March 2020

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Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

31 March 2020

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A perfect message: RNA surveillance and nonsense-mediated decay

31 March 2020

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When the message goes awry: disease-producing mutations that influence mRNA content and performance.

31 March 2020

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The skipping of constitutive exons in vivo induced by nonsense mutations

31 March 2020

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Maintenance of an open reading frame as an additional level of scrutiny during splice site selection

31 March 2020

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A premature termination codon in either exon of minute virus of mice P4 promoter-generated pre-mRNA can inhibit nuclear splicing of the intervening intron in an open reading frame-dependent manner

31 March 2020

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A premature termination codon interferes with the nuclear function of an exon splicing enhancer in an open reading frame-dependent manner

31 March 2020

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Precursor RNAs harboring nonsense codons accumulate near the site of transcription

31 March 2020

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Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

31 March 2020

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Nonsense surveillance in lymphocytes?

31 March 2020

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Pre-mRNA processing: insights from nonsense

31 March 2020

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Nuclear eukaryotic initiation factor 4E (eIF4E) colocalizes with splicing factors in speckles

31 March 2020

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Coupling of transcription and translation in Dictyostelium discoideum nuclei

31 March 2020

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Coupled transcription and translation within nuclei of mammalian cells.

31 March 2020

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The structural and functional diversity of dystrophin

31 March 2020

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Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

31 March 2020

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Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

31 March 2020

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

31 March 2020

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Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

31 March 2020

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The association of nonsense codons with exon skipping

31 March 2020

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

31 March 2020

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A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

31 March 2020

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Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream

31 March 2020

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

31 March 2020

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A BRCA1 nonsense mutation causes exon skipping

31 March 2020

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The molecular genetics of the T-cell antigen receptor and T-cell antigen recognition

31 March 2020

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Frequent aberrant immunoglobulin gene rearrangements in pro-B cells revealed by a bcl-xL transgene.

31 March 2020

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Identification and characterization of a spinal muscular atrophy-determining gene

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

31 March 2020

1 reference

The role of SMN in spinal muscular atrophy.

31 March 2020

1 reference

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

31 March 2020

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Neurodegenerative tauopathies

31 March 2020

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FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10

31 March 2020

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

31 March 2020

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Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion

31 March 2020

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

31 March 2020

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Evidence for purifying selection acting on silent sites in BRCA1

31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing

31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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

31 March 2020

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The splicing factors 9G8 and SRp20 transactivate splicing through different and specific enhancers.

31 March 2020

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Regulation of alternative polyadenylation by U1 snRNPs and SRp20.

31 March 2020

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Sequence-specific RNA binding by an SR protein requires RS domain phosphorylation: creation of an SRp40-specific splicing enhancer

31 March 2020

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Human Tra2 proteins are sequence-specific activators of pre-mRNA splicing

31 March 2020

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A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype

31 March 2020

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Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene

31 March 2020

1 reference

Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.

31 March 2020

1 reference

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

31 March 2020

1 reference

A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly

31 March 2020

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Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria

31 March 2020

1 reference

Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

31 March 2020

1 reference

A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G-->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency

31 March 2020

1 reference

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene

31 March 2020

1 reference

Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds

31 March 2020

1 reference

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

31 March 2020

1 reference

Molecular basis for Rhnull syndrome: Identification of three new missense mutations in the Rh50 glycoprotein gene

31 March 2020

1 reference

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

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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.

31 March 2020

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

31 March 2020

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Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

31 March 2020

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Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

31 March 2020

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A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria

31 March 2020

1 reference

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

31 March 2020

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A point mutation in PTPRC is associated with the development of multiple sclerosis

31 March 2020

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Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients

31 March 2020

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Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

31 March 2020

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Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

31 March 2020

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

31 March 2020

1 reference

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31 March 2020

Identifiers

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30 April 2017

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1011644042

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Consolidated OpenCitations Corpus – April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=11967553

PubMed publication ID

2 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017