Exploratory analyses of the other mutations were conducted to understand the full spectrum of change during treatment: There was no statistically significant increase in any of the other 8 possible mutation types, including all transversions, and, the overall p-value for any effect of treatment on transversion mutations, corrected for multiple testing, was 0.38.
GPCR mutation types, including mainly polymorphisms and laboratory artificial modifications, are also annotated but most RGS mutation data currently stored in RINGdb is generated by site-directed mutagenesis.
In Leishmania it has allowed to rapidly and comprehensively analyze a wide range of mutation types, including gene copy number variations (CNV) and aneuploidy [ 12].
51 This means that a single NGS panel test has the potential to ascertain all known major mutation types, including PMP22 duplications and deletions.
This approach reliably searches about 90% of the known protein coding sequence for all mutation types including single base substitutions, small indels, single and multiple exon deletions and duplications.
The BIC database was used as resource for a range of mutation types analyzed, including missense (n = 17), nonsense (n = 167), splicing (n = 5), insertion or deletion mutations that maintained the ORF (n = 19), unclassified variant (UV; n = 387) and polymorphisms (n = 12).
Activation of PI3K/AKT pathway may thus occur in FL through alternative events previously evidenced in other cancer types, including mutation or gene amplification of membrane receptors, overexpression of growth factors, AKT gene amplification, and PIK3CA gene amplification [ 37, 38, 18].
Our experiments included a limited set of resistance elements (three different types, including chromosomal mutations and a plasmid).
FBXW7 encodes the substrate recognition component of a ubiquitin ligase that degrades targets such as Notch1, c-Jun, c-Myc and cyclin E. FBXW7 mutations occur in several tumour types, including colorectal cancers.
By applying LRAcluster on the TCGA pan-cancer dataset (11 different cancer types, 3,319 samples and four different data types including somatic mutations, copy number variations, DNA methylations, and gene expressions), we get ten clusters in the reduced ten-dimension subspace (Table 1).
Since the tumor suppressor P53 is a master regulator of apoptosis in many cell types, including erythroblasts24, and mutations in the ribosomal protein genes cause erythroid cell death in patients with Diamond-Blackfan anemia via P53 activation11, we examined whether P53 is involved in JNK inhibition-induced apoptosis in human erythroblasts.
