Generally, the markers identified by comparative analysis of gene expression are not always detected in replication studies7, suggesting that analysis with only common genetic variants or gene expression profiles is not sufficient for a comprehensive understanding of RA6.
Abnormal alterations in these elements may lead to aberrant splice variants or abnormal expression, inducing dysregulation of maturation of E-cadherin.
Another example is the connection between original experimental data such as sequencing data, additional data such as genomic references or gene annotations used when analysing the data, and results of such analyses such as lists of genetic variants or gene expression levels.
Splice variants were enriched for EST originating from different cDNA libraries and, for a given gene, suitable tissues were chosen according to the origin of ESTs for the minor splice variant or the expression profile found in the Stanford SOURCE data base [ 79].
Substantive concern: What the paper lacks is clear cut experimental evidence showing that a single copy of a CMT2B rab7 variant (or protein expression equivalent of it) in a heterozygous mutant background represents a reduction in Rab7 activity and predisposes neurons to degeneration.
Pkd1l2 was the only gene in this region for which analysis of splicing variants or differences in expression could not be established despite its reported expression in skeletal muscle (7).
The prevalence of SVs in genic regions can potentially lead to the formation of natural allelic variants or alter gene expression and function altogether.
We examined eight variants of five pro-inflammatory cytokine genes which have been either shown to be linked with DN in other ethnic populations or were functional variants affecting expression or function of these genes.
Expression and purification of correctly folded proteins typically require screening of different parameters such as protein variants, solubility enhancing tags or expression hosts.
