| case report | Q2782326 |
| scholarly article | Q13442814 |
| P50 | author | Benjamin J. Blencowe | Q63212972 |
| P2093 | author name string | Lap-Chee Tsui | |
| Julian Zielenski | |||
| Johanna M Rommens | |||
| Isabel Aznarez | |||
| P2860 | cites work | General and specific functions of exonic splicing silencers in splicing control | Q24673220 |
| Nonsense-mediated mRNA decay: from vacuum cleaner to Swiss army knife | Q24791373 | ||
| Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy | Q28201294 | ||
| Silencers regulate both constitutive and alternative splicing events in mammals | Q29394379 | ||
| Listening to silence and understanding nonsense: exonic mutations that affect splicing | Q29618493 | ||
| Systematic identification and analysis of exonic splicing silencers. | Q33210154 | ||
| CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X | Q33595872 | ||
| Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles | Q33715654 | ||
| Coupling of signal transduction to alternative pre-mRNA splicing by a composite splice regulator | Q33888864 | ||
| Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation | Q34166299 | ||
| Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis | Q34213495 | ||
| Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations | Q34268532 | ||
| Analysis of the requirement for RNA polymerase II CTD heptapeptide repeats in pre-mRNA splicing and 3'-end cleavage | Q34365622 | ||
| Computational definition of sequence motifs governing constitutive exon splicing. | Q34372912 | ||
| NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on. | Q34751023 | ||
| Nitric oxide synthase 1 as a potential modifier gene of decline in lung function in patients with cystic fibrosis | Q35536454 | ||
| Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas | Q35595921 | ||
| Latent splice sites and stop codons revisited | Q35610046 | ||
| Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species | Q36131531 | ||
| A complex of nuclear proteins mediates SR protein binding to a purine-rich splicing enhancer | Q37427415 | ||
| A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition | Q38301317 | ||
| Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene | Q38335507 | ||
| Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line | Q41080762 | ||
| Cystic fibrosis: genotypic and phenotypic variations | Q41126387 | ||
| Site-directed mutagenesis using overlap extension PCR. | Q41146173 | ||
| Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations | Q41551975 | ||
| A Cystic Fibrosis Bronchial Epithelial Cell Line: Immortalization by Adeno-12-SV40 Infection | Q41689566 | ||
| Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation | Q44200339 | ||
| Correction of disease-associated exon skipping by synthetic exon-specific activators | Q44276105 | ||
| Alternatively spliced TCR mRNA induced by disruption of reading frame. | Q52546559 | ||
| Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. | Q55033106 | ||
| Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients | Q62583358 | ||
| The stop mutation R553X in the CFTR gene results in exon skipping | Q71624175 | ||
| α1-Antitrypsin Deficiency Alleles in Cystic Fibrosis Lung Disease | Q73256292 | ||
| The association of nonsense codons with exon skipping | Q77525539 | ||
| Involvement of SR proteins in mRNA surveillance | Q81013881 | ||
| Genetic modifiers of lung disease in cystic fibrosis | Q81316734 | ||
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | cystic fibrosis | Q178194 |
| P304 | page(s) | 341-346 | |
| P577 | publication date | 2007-05-01 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. | |
| P478 | volume | 44 |
| Q39495967 | A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome |
| Q34728748 | CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR. |
| Q51496984 | Classification of CFTR mutation classes. |
| Q39784685 | Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. |
| Q100635243 | Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development |
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