Pages that link to "Q77525539"
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The following pages link to The association of nonsense codons with exon skipping (Q77525539):
Displaying 50 items.
- Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol (Q24294455) (← links)
- Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy (Q24561893) (← links)
- Aberrant RNA splicing and its functional consequences in cancer cells (Q24657594) (← links)
- Molecular analysis of acid ceramidase deficiency in patients with Farber disease (Q28204074) (← links)
- Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene (Q28204883) (← links)
- Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway (Q28249240) (← links)
- RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons (Q28268426) (← links)
- The contribution of exon-skipping events on chromosome 22 to protein coding diversity. (Q28363137) (← links)
- Listening to silence and understanding nonsense: exonic mutations that affect splicing (Q29618493) (← links)
- Alternative pre-mRNA splicing and proteome expansion in metazoans (Q29618540) (← links)
- Out-of-frame T cell receptor beta transcripts are eliminated by multiple pathways in vivo (Q31023780) (← links)
- The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence (Q33350104) (← links)
- Calculation of splicing potential from the Alternative Splicing Mutation Database (Q33350108) (← links)
- Where do introns come from? (Q33391507) (← links)
- Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier (Q33719417) (← links)
- Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases (Q33850031) (← links)
- Genomic features defining exonic variants that modulate splicing (Q33861632) (← links)
- Nonsense-mediated decay of human HEXA mRNA. (Q33969215) (← links)
- Candidate tumour suppressor genes at 11q23-q24 in breast cancer: evidence of alterations in PIG8, a gene involved in p53-induced apoptosis (Q34106298) (← links)
- Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frame (Q34366208) (← links)
- Nonsense-associated alternative splicing of T-cell receptor beta genes: no evidence for frame dependence (Q34366214) (← links)
- Splicing regulation as a potential genetic modifier (Q34540777) (← links)
- RNA-protein interactions that regulate pre-mRNA splicing. (Q34546187) (← links)
- RNA surveillance by nuclear scanning? (Q34664936) (← links)
- A Hox gene mutation that triggers nonsense-mediated RNA decay and affects alternative splicing during Drosophila development (Q35186165) (← links)
- Submicroscopic deletions at 13q32.1 cause congenital microcoria (Q35266333) (← links)
- Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. (Q35681880) (← links)
- A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer (Q35779276) (← links)
- Genome editing through large insertion leads to the skipping of targeted exon (Q35874929) (← links)
- 129-Derived Mouse Strains Express an Unstable but Catalytically Active DNA Polymerase Iota Variant (Q35917435) (← links)
- Premature Termination Codons Are Recognized in the Nucleus in A Reading-Frame Dependent Manner (Q36175821) (← links)
- A plasma cell differentiation quality control ablates B cell clones with biallelic Ig rearrangements and truncated Ig production (Q36455282) (← links)
- FGFR3IIIS: a novel soluble FGFR3 spliced variant that modulates growth is frequently expressed in tumour cells (Q36671043) (← links)
- Genetics and immunopathology of chronic granulomatous disease (Q37176109) (← links)
- BRCA2 T2722R is a deleterious allele that causes exon skipping (Q37219028) (← links)
- Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism (Q37686783) (← links)
- Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. (Q38301685) (← links)
- Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents (Q39699084) (← links)
- Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. (Q39784685) (← links)
- Exon inclusion is dependent on predictable exonic splicing enhancers (Q40390929) (← links)
- Stop codon-mediated suppression of splicing is a novel nuclear scanning mechanism not affected by elements of protein synthesis and NMD. (Q40511839) (← links)
- Molecular characterization of ionizing radiation-hypersensitive mutant M10 cells (Q40764626) (← links)
- Predicted changes in pre-mRNA secondary structure vary in their association with exon skipping for mutations in exons 2, 4, and 8 of the Hprt gene and exon 51 of the fibrillin gene (Q40891866) (← links)
- Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome (Q41368463) (← links)
- A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes (Q42640148) (← links)
- Conservation of an open-reading frame as an element affecting 5' splice site selection (Q42691129) (← links)
- The effect of nonsense codons on splicing: a genomic analysis (Q43207082) (← links)
- Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. (Q43232408) (← links)
- Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2. (Q43806027) (← links)
- Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia (Q44446145) (← links)