Since almost all chloroplast transcriptomes responded rather sensitively to mutations and displayed complex expression patterns, the characteristic expression signatures of groups I and II or simple quantification of changes in transcript levels could not be used to identify specific defects in chloroplast RNA metabolism.
The girl's 47-year-old father had the same THRA mutation and displayed short stature with a height 3.77 SDs below normal and acquired hearing loss due to otosclerosis (6, 8).
The Arabidopsis pex4-1 mutant is caused by a Pro123Leu missense mutation and displays a variety of phenotypes suggestive of peroxisome deficiencies, including sucrose dependence, IBA resistance, inefficient PTS2 processing [ 13], PTS1 import defects [ 14], and elevated membrane-associated PEX5 [ 33].
It inputs raw sequence data (fastq format), identifies drug resistance and lineage specific mutations, and displays related outputs (see screenshots in Additional file 1: Figure S2).
This was consistent with data from the The Cancer Genome Atlas (TCGA) database, in which the proneural subgroup of glioblastoma was found to be enriched with IDH mutations and display hypermethylation in a large number of loci [ 28].
As a model, we used Tg2576 mice, which overexpress a human APP transgene containing the Swedish FAD mutation (K670N/M671L), and display the slowest amyloid pathology [ 9] of all the models analyzed by Meyer-Luehmann et al. [ 16].
The EGFR kinase domain is constitutively activated by the somatic mutations, and it displays enhanced binding and sensitivity to EGFR TKIs [9] [11].
This CRC subgroup has an extremely low frequency of TP53 mutation, and displays overexpression of MDM2 and normal expression of p21, suggesting that deregulation of p53 pathway in this CRC subgroup may be due to other alternative mechanisms than TP53 mutation.
Although we are more at the beginning than at the end of sAD genetics, optimism prevails given the recent important characterization of novel risk or protective variants (including rare TREM2 and APP mutations) displaying significant statistical associations with sAD.
