1
In two cases, mRNA analysis was performed to confirm aberrant splicing.
2
Molecular mechanisms by which such mutations cause tau aberrant splicing were not understood.
3
It was inferred that aberrant splicing of the pre-mRNA leads to loss-of-function of BrFLC1.
4
The mutations are predicted to result in a truncated PTCH protein and aberrant splicing, respectively.
5
In tumours, aberrant splicing generates variants that contribute to multiple aspects of tumour establishment, progression and maintenance.
6
This approach successfully prevented the aberrant splicing - reverting the majority of the splice to the wildtype transcript.
7
The observed mutations, aberrant splicing and downregulation of UMPS represent novel mechanisms for acquired 5-FU resistance in colorectal cancer.
8
To identify other missense mutations in BRCA1 that may result in aberrant splicing, we screened various mutations using the Genscan program.
9
Mucopolysaccharidosis II is a lysosomal storage disorder caused by mutations in the IDS gene, including exonic alterations associated with aberrant splicing.
10
Mutations in the human tau gene leading to aberrant splicing have been identified in FTDP-17, an autosomal dominant hereditary neurodegenerative disorder.
11
Interestingly, 4 of the indel mutations led to aberrant splicing, which may produce a different protein than predicted from the genomic sequence.
12
We found that insertion of a non-autonomous Class LTR retrotransposable element in the resistant genotype leads to aberrant splicing of CsaMLO8 mRNA.
13
Mutation analysis revealed the expected total of 66 mutated alleles, 34 of which result in aberrant splicing patterns.
14
In a UK national study, the authors analyzed 15 index cases with typical EA2 and identified two unreported intronic mutations that predict aberrant splicing.
15
PMID: 24519095 Sequencing of the patient's cDNA revealed an insertion of the last nine nucleotides of intron 3 as a result of aberrant splicing.
16
Intron 5 of the spa Glyrb gene contains an L1 transposable element that apparently is causal for the aberrant splicing of beta subunit transcripts.
