|1.||Turner, Douglas H: 4 articles (06/2015 - 01/2012)|
|2.||Desviat, Lourdes R: 4 articles (02/2014 - 01/2006)|
|3.||Pérez, Belén: 3 articles (01/2015 - 02/2011)|
|4.||Ugarte, Magdalena: 3 articles (01/2015 - 01/2006)|
|5.||Dela-Moss, Lumbini I: 3 articles (01/2014 - 01/2012)|
|6.||Moss, Walter N: 3 articles (01/2014 - 01/2012)|
|7.||Bader El Din, Noha G: 2 articles (11/2015 - 05/2011)|
|8.||Anany, Mohamed A: 2 articles (11/2015 - 05/2011)|
|9.||El Awady, Mostafa K: 2 articles (11/2015 - 05/2011)|
|10.||Pinotti, Mirko: 2 articles (09/2015 - 03/2008)|
11/03/2015 - "SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of the branch point sequence (BPS) during selection of the 3? splice site (ss) in RNA splicing. "
11/03/2015 - "Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3? Splice Site Selection through Use of a Different Branch Point."
06/01/2015 - "These data provide the first detailed mechanistic insights into a cancer risk-associated SNP in the hTERT locus, which causes cell type-specific expression of INS1b transcript from the presence of an additional alternative splice site created in intron 4 by the risk allele. "
03/01/2015 - "Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers."
08/07/2013 - "This trinucleotide motif overlaps the canonical splice acceptor site, possibly accounting for the excess of splice site mutations observed in these tumors. "
|2.||Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
02/01/2014 - "In particular, the efficacy of antisense therapy for suppression of normal, pathogenic, or cryptic splice sites has been demonstrated in cellular and animal models and has already reached the clinical trials phase for Duchenne muscular dystrophy. "
08/01/2009 - "We found that exon 25 is spliced out in the +1G-->A mutation in intron 25, resulting in mild Becker muscular dystrophy, and that a cryptic splice site within exon 45 was activated in severe Duchenne muscular dystrophy with a mutation of +1G-->A mutation in 45. "
03/01/2009 - "Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene."
01/01/1994 - "A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy."
06/15/1993 - "A single base change in the 5' splice-site of intron 19 has been identified as the cause of the Becker muscular dystrophy in a family which had previously been deduced to carry both a major deletion and another, at that stage unidentified, mutation in the same dystrophin gene [Laing et al., 1992]. "
|3.||Contagious Ecthyma (Orf)
08/01/2008 - "Here we report (i) the identification and disruption of a novel transcript that encodes a short, previously unreported ORF (M2b) located in the intron between exon 1 and exon 2 of the M2 transcript; (ii) the identification of clustered but distinct M2 gene transcription initiation sites suggesting the presence of multiple promoters involved in regulating M2 gene transcription; (iii) the characterization in vivo of recombinant MHV68 harboring deletions within the identified M2 promoter region; and (iv) the in vivo analysis of recombinant MHV68 harboring mutations that ablate either the identified M2 splice acceptor or splice donor site. "
02/01/1997 - "Characterization of Neurospora mitochondrial group I introns reveals different CYT-18 dependent and independent splicing strategies and an alternative 3' splice site for an intron ORF."
04/10/1996 - "The absence of a significant ORF in the long P9 region (522 nt), separating the catalytic core from the 3' splice site, makes this intron different from the other known examples of group I introns. "
12/01/1995 - "The results showed E6 splice site function and evidence for enhanced exon skipping from E6 splice donor site to acceptor sites 3' of the E7 ORF. "
07/17/1995 - "Virus mutants in which the splice acceptor site in ORF II is inactivated are not infectious, indicating that splicing plays an essential role in the CaMV life cycle. "
|4.||Metabolic Diseases (Metabolic Disease)
01/01/2014 - "We have previously demonstrated the efficacy of antisense therapy for splicing defects in cellular models of metabolic diseases, suppressing the use of cryptic splice sites or pseudoexon insertions. "
02/01/2014 - "In different inherited metabolic diseases, splice switching oligonucleotides (SSOs) have been used with success in patients' cells to force pseudoexon skipping or to block cryptic splice sites, in both cases recovering normal transcript and protein and correcting the enzyme deficiency. "
05/01/1984 - "Secondly, studies with the mutant, adenovirus 2 pm2250 , provided evidence that there was an increased propensity to utilize a 5' splice in the region of the 13S 5' splice site at late times in infection. "
09/10/2003 - "The adenovirus gene expression program requires the activation of distal alternative 3' splice sites during the late phase of infection in major late transcripts. "
01/01/1998 - "Similarly, mutation of the splice donor site significantly reduces levels of 2 kb major LAT during productive infection but has no detectable effect on the generation of 2 kb major LAT during neuronal latency as assessed by Northern and in situ hybridization analyses of latently infected neuronal tissue. "
01/01/1998 - "We report that mutation of the splice acceptor site abrogates 2 kb major LAT generation during productive infection but does not significantly influence major LAT synthesis during neuronal latency. "
01/01/1998 - "Disruption of the 5' and 3' splice sites flanking the major latency-associated transcripts of herpes simplex virus type 1: evidence for alternate splicing in lytic and latent infections."
|1.||RNA Splice Sites
|2.||RNA (Ribonucleic Acid)
|3.||RNA Precursors (Precursor, mRNA)
|4.||Messenger RNA (mRNA)
|5.||DNA (Deoxyribonucleic Acid)
|6.||Nonsense Codon (Nonsense Mutation)
|8.||U1 small nuclear RNA
|9.||Untranslated Regions (Untranslated Region)