The association of nonsense codons with exon skipping

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

1989 • 7,327 citations

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1988 • 1,501 citations

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

1993 • 1,438 citations

mRNA stability in mammalian cells

1995 • 1,258 citations

Exon Recognition in Vertebrate Splicing

1995 • 1,067 citations

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

1994 • 1,053 citations

Characterization of the human factor VIII gene

1984 • 983 citations

Cloning of the γ Chain of the Human IL-2 Receptor

1992 • 835 citations

Expression of active human factor VIII from recombinant DNA clones

1984 • 699 citations

INTERRELATIONSHIPS OF THE PATHWAYS OF mRNA DECAY AND TRANSLATION IN EUKARYOTIC CELLS

1996 • 653 citations

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

1995 • 515 citations

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

1986 • 494 citations

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

1995 • 478 citations

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

1993 • 440 citations

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

1990 • 433 citations

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.

1989 • 367 citations

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

1993 • 356 citations

A Regulatory Mechanism That Detects Premature Nonsense Codons in T-cell Receptor Transcripts in Vivo Is Reversed by Protein Synthesis Inhibitors in Vitro

1995 • 317 citations

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

1993 • 312 citations

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

1983 • 299 citations

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

1982 • 295 citations

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

1993 • 286 citations

A splicing-dependent regulatory mechanism that detects translation signals.

1996 • 278 citations

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

1997 • 277 citations

Conservation of the Duchenne Muscular Dystrophy Gene in Mice and Humans

1987 • 255 citations

Mechanisms and control of mRNA turnover in Saccharomyces cerevisiae

1996 • 246 citations

Identification of a New Class of Exonic Splicing Enhancers by In Vivo Selection

1997 • 237 citations

Working paper no. 3 Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo

1994 • 234 citations

Premature translation termination mediates triosephosphate isomerase mRNA degradation.

1988 • 229 citations

Isolation and Characterization of a Full-Length Expressible cDNA for Human Hypoxanthine Phosphoribosyltransferase

1983 • 222 citations

Polypurine sequences within a downstream exon function as a splicing enhancer.

1994 • 222 citations

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene

1995 • 211 citations

Nonsense Surveillance in Lymphocytes?

1998 • 200 citations

Consequences of frameshift mutations at the immunoglobulin heavy chain locus of the mouse.

1985 • 193 citations

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

1997 • 185 citations

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

1995 • 180 citations

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

1993 • 179 citations

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

1991 • 174 citations

Complete sequence and structure of the gene for human adenosine deaminase

1986 • 161 citations

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

1990 • 160 citations

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

1990 • 159 citations

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.

1997 • 151 citations

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

1992 • 150 citations

Human alpha-L-iduronidase: cDNA isolation and expression.

1991 • 148 citations

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

1994 • 146 citations

Organization of the human protein S genes

1990 • 143 citations

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.

1996 • 143 citations

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

1994 • 140 citations

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

1992 • 135 citations

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

1995 • 133 citations

Nonsense Mutations Inhibit RNA Splicing in a Cell-Free System: Recognition of Mutant Codon Is Independent of Protein Synthesis

1996 • 132 citations

Introns are cis Effectors of the Nonsense-Codon-Mediated Reduction in Nuclear mRNA Abundance

1994 • 131 citations

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.

1994 • 131 citations

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

1992 • 124 citations

Adenosine Deaminase Deficiency in Adults

1997 • 123 citations

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

1993 • 123 citations

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

1994 • 123 citations

Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.

1995 • 119 citations

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

1996 • 115 citations

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

1996 • 115 citations

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum

1998 • 113 citations

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

1987 • 111 citations

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

1992 • 98 citations

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

1994 • 96 citations

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

1992 • 95 citations

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

1996 • 93 citations

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

1993 • 93 citations

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

1993 • 91 citations

Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin.

1995 • 90 citations

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.

1993 • 89 citations

Selection of Novel Exon Recognition Elements from a Pool of Random Sequences

1995 • 86 citations

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

1991 • 85 citations

Analysis of Mutations Occurring at the Human hprt Locus

1993 • 84 citations

Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques.

1997 • 84 citations

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

1992 • 82 citations

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

1994 • 81 citations

A native RNA secondary structure controls alternative splice-site selection and generates two human growth hormone isoforms.

1992 • 80 citations

Correction: Cloning of cDNAs for Fanconi's anaemia by functional complementation

1992 • 80 citations

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.

1993 • 78 citations

T Cell Receptor (TCR) Mini-Gene mRNA Expression Regulated by Nonsense Codons: A Nuclear-associated Translation-like Mechanism

1997 • 76 citations

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

1995 • 69 citations

Effects of Nonsense Mutations on Nuclear and Cytoplasmic Adenine Phosphoribosyltransferase RNA

1996 • 66 citations

The exon sequence TAGG can inhibit splicing

1996 • 66 citations

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

1996 • 63 citations

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

1995 • 62 citations

Molecular analysis of hprt gene mutations in skin fibroblasts of rats exposed in vivo to N-methyl-N-nitrosourea or N-ethyl-N-nitrosourea.

1994 • 61 citations

Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.

1993 • 57 citations

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

1993 • 55 citations

Dystrophin gene transcripts skipping the mdx mutation

1997 • 53 citations

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

1996 • 52 citations

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

1995 • 51 citations

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

1997 • 51 citations

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

1997 • 48 citations

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

1992 • 48 citations

The Stop Mutation R553X in the CFTR Gene Results in Exon Skipping

1994 • 48 citations

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

1997 • 46 citations

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

1990 • 41 citations

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

1991 • 40 citations

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

1997 • 40 citations

Mutations causing defective splicing in the human hprt gene

1992 • 40 citations

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

1997 • 40 citations

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

1991 • 38 citations

Aberrant Splicing of Exon 6 in the Pyruvate Denydrogenase-Elα mRNA Linked to a Silent Mutation in a Large Family with Leigh's Encephalomyelopathy

1994 • 37 citations

DNA Sequence Analysis of HPRT - Mutants Induced in Human Lymphoblastoid Cells Adapted to Ionizing Radiation

1995 • 36 citations

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.

1995 • 32 citations

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

1993 • 31 citations

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger

1993 • 31 citations

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.

1996 • 30 citations

Detection of Three Nonsense Mutations and One Missense Mutation in the Interleukin-2 Receptor γ Chain Gene in SCIDX1 That Differently Affect the mRNA Processing

1994 • 30 citations

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

1998 • 29 citations

Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene.

1992 • 28 citations

Molecular Analysis of Mutations in the Gene of V79 Hamster Fibroplasts: Effects of Imbalances in the dCTP, dGTP and dTTP Pools

1995 • 28 citations

Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.

1994 • 28 citations

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

1994 • 25 citations

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

1997 • 25 citations

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

1995 • 25 citations

The association of nonsense mutation with exon-skipping in hprt mRNA of Chinese hamster ovary cells results from an artifact of RT-PCR.

1997 • 24 citations

Alternative splicing of pre-mRNAs encoding the nonstructural proteins of minute virus of mice is facilitated by sequences within the downstream intron

1994 • 23 citations

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

1993 • 23 citations

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

1992 • 22 citations

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

1998 • 22 citations

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

1995 • 21 citations

A Novel Nonsense Mutation Associated with an Exon Skipping in a Patient with Hereditary Protein S Deficiency Type I

1996 • 21 citations

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

1992 • 20 citations

Splicing mutations at theHPRT locus in human T-lymphocytes in vivo

1998 • 19 citations

Molecular analysis of mutations in T-lymphocytes from experienced Soviet cosmonauts

1997 • 19 citations

Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.

1995 • 16 citations

Mutagenicity and mutational spectrum of N-methyl-N'-nitro-N-nitrosoguanidine in the hprt gene in G1-S and late S phase of diploid human fibroblasts.

1993 • 16 citations

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

1994 • 14 citations

Analysis of Alternative Splicing Patterns in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Using mRNA Derived from Lymphoblastoid Cells of Cystic Fibrosis Patients

1996 • 13 citations

Defective splicing induced by 4NQO in the hamster hprt gene

1994 • 12 citations

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

1995 • 11 citations

Factors Involved in the Activation of Pre-mRNA Splicing from Downstream Splicing Enhancers

1996 • 11 citations

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

1995 • 11 citations

RNA processing mutants at the dihydrofolate reductase locus in Chinese hamster ovary cells.

1990 • 11 citations

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

1996 • 9 citations

Analysis of solvent control and 1‐Nitrosopyrene‐induced chinese hamster ovary cell mutants by southern and northern blots and the polymerase chain reaction

1992 • 8 citations

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

1993 • 7 citations