To confirm this absence of copy number alterations in our genes of interest and enhance the probability of finding new mutations, we extended our series to a panel of selected patients with recurrent fever (N = 88, Figure 1) with either one MVK punctual mutation for MKD, or urticaria and/or neurosensorial symptoms for CAPS.
To further analyze the hypothesis that the TP53 pathway might be inactivated or blocked in ALL independently of TP53 mutations, we extended the analysis of DNA methylation by MSP to a total of 24 genes implicated in the TP53 pathway using six derived ALL cell lines (Figure 3).
Consequently, we used STR analysis to ensure that the samples were accurately matched Most previous studies have examined tumor tissue for mtDNA mutations, we extended this to evaluate the feasibility of using body fluids in proximity to the tumor as a non-invasive method to detect mtDNA mutations.
If we corrected the single point mutation, we would extend human AGT1 by 22 residues.
In search of a germline mutation in DAPK1 regulatory sequences, we extended our genomic sequencing efforts.
Not knowing whether R16H is a very rare polymorphism or a pathogenic mutation related to colorectal cancer, we extended the screening of exon 1 to an additional series of 321 CRC samples, but no additional R16H carriers were observed.
To ensure complete disruption of miRNA seed sequences in selected non-rescued cases, we extended the mutations to include a complete seed mismatch (position 2 8).
Here, following the work by [ 8], we extend the mutation tree from [ 10] into a nonlinear model with mutations (1)–(5).
Additionally, the mutation spectrum extended to APP locus duplications underscoring the importance of APP gene dosage in AD.
Additionally, the mutation spectrum extended to APP locus duplications underscoring the importance of APP gene dosage in AD, already observed in the case of Down syndrome [ 29].
