(Q77525539)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806422%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

review article

1 reference

title

The association of nonsense codons with exon skipping (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806422%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

author name string

C R Valentine

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806422%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

language of work or name

English

0 references

publication date

1 September 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806422%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806422%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

411

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806422%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

page(s)

87-117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806422%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806422%20AND%20SRC:MED&resulttype=core&format=json

The skipping of constitutive exons in vivo induced by nonsense mutations

6 December 2019

cites work

1 reference

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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.

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7 January 2021

A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis

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7 January 2021

The stop mutation R553X in the CFTR gene results in exon skipping

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7 January 2021

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients

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7 January 2021

Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex

1 reference

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7 January 2021

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1 reference

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7 January 2021

Expression of active human factor VIII from recombinant DNA clones

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7 January 2021

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

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7 January 2021

Cloning of cDNAs for Fanconi's anaemia by functional complementation

1 reference

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7 January 2021

A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

1 reference

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7 January 2021

DNA sequence analysis of HPRT- mutants induced in human lymphoblastoid cells adapted to ionizing radiation

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Novel mutational spectrum induced by N-methyl-N'-nitro-N-nitrosoguanidine in the coding region of the hypoxanthine (guanine) phosphoribosyltransferase gene in diploid human fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Spectrum of X-ray-induced mutations in the human hprt gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Analysis of mutations induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) in human lymphoblastoid cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Comparison of mutation spectra induced by N-ethyl-N-nitrosourea in the hprt gene of Mer+ and Mer- diploid human fibroblasts.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Molecular spectrum of mutations induced at the HPRT locus by a cross-linking agent in human cell lines with different repair capacities

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Genomic DNA sequencing of mRNA splicing mutants in the hprt gene of Chinese hamster ovary cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Low hprt mRNA levels and multiple hprt mRNA species in 6-thioguanine-resistant Chinese hamster cell mutants possessing nonsense mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Defective splicing induced by 4NQO in the hamster hprt gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Cloning of the gamma chain of the human IL-2 receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Organization of the human protein S genes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Polypurine sequences within a downstream exon function as a splicing enhancer

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Nonsense surveillance in lymphocytes?

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Analysis of solvent control and 1-nitrosopyrene-induced Chinese hamster ovary cell mutants by Southern and northern blots and the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

DNA sequence analysis of 1-nitrosopyrene-induced mutations in the hprt gene of Chinese hamster ovary cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Complete sequence and structure of the gene for human adenosine deaminase

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Spectrum of somatic mutation at the hypoxanthine phosphoribosyltransferase (hprt) gene of healthy people.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Determination of hprt mutant and mutation frequencies and the molecular characterization of human derived in vivo T-lymphocyte mutants.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Molecular analysis of hprt mutants induced by 2-cyanoethylene oxide in human lymphoblastoid cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Molecular analysis of mutations in the hprt gene of V79 hamster fibroblasts: effects of imbalances in the dCTP, dGTP and dTTP pools

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Spectrum of spontaneously occurring mutations in the hprt gene of V79 Chinese hamster cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

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%2FS1383-5742%2898%2900010-6

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%2FS1383-5742%2898%2900010-6

7 January 2021

Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Direct selection for mutations affecting specific splice sites in a hamster dihydrofolate reductase minigene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

DNA rehybridization during PCR: the 'Cot effect' and its consequences

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Premature nonsense codons decrease the stability of phytohemagglutinin mRNA in a position-dependent manner

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Effects of nonsense mutations on nuclear and cytoplasmic adenine phosphoribosyltransferase RNA.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

T cell receptor (TCR) mini-gene mRNA expression regulated by nonsense codons: a nuclear-associated translation-like mechanism

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Nonsense mutations inhibit splicing of MVM RNA in cis when they interrupt the reading frame of either exon of the final spliced product.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Exon recognition in vertebrate splicing

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Factors involved in the activation of pre-mRNA splicing from downstream splicing enhancers.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

General splicing factor SF2/ASF promotes alternative splicing by binding to an exonic splicing enhancer

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

A subset of SR proteins activates splicing of the cardiac troponin T alternative exon by direct interactions with an exonic enhancer

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

The exon sequence TAGG can inhibit splicing

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Analysis of mutations occurring at the human hprt locus.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Naturally occurring splicing variants of the hMSH2 gene containing nonsense codons identify possible mRNA instability motifs within the gene coding region

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Premature translation termination mediates triosephosphate isomerase mRNA degradation

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Hprt activities and RNA phenotypes in 6-thioguanine resistant human T-lymphocytes.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Mutations causing defective splicing in the human hprt gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Strand specificity for mutations induced by (+)-anti BPDE in the hprt gene in human T-lymphocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Molecular spectrum of background mutation at the hprt locus in human T-lymphocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Dystrophin gene transcripts skipping the mdx mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

Revertant fibres: a possible genetic therapy for Duchenne muscular dystrophy?

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900010-6

7 January 2021

10.1016/S1383-5742(98)00010-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806422%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference