Further, there are no functional studies.
To date, no functional studies have tested this hypothesis.
The study as it stands is far from complete because the actual causal variant(s) within ENPP1 has not been identified and no functional study on the activity of the enzyme in hand osteoarthritis was presented.
In humans, the function of PPARα is examined less thoroughly, because functional studies are more complicated.
Because functional studies might be biased by researcher's interests, we also examined the collection of A. thaliana FBX proteins basically chosen at random for biochemical studies, including representatives tested for SKP1/ASK interaction (e.g., [12], [20]) (Table S4).
The correlation of rare MEFV alleles with elevated chemokine/cytokine plasma levels is especially intriguing because functional studies on the pyrin protein would predict disregulation of IL-1β secretion in patients with chronic inflammation.
Helix discontinuities were introduced midway between the two sites, because structural and functional studies suggest that this location is well outside of the DNA binding footprint of AAG when it is bound to either of the lesion sites.
We also sought to identify the transcription factor NF-κB among the E. lineata contigs, because a number of functional studies have been performed on NF-κB in N. vectensis[ 60- 63], and the overall structure of the protein in this species [ 64] appears to be derived relative to the ancestral condition for metazoans [ 65].
Because of the lack of functional studies on this promoter, the descriptive work of the observed sequence variation was restricted to the identification of consensus binding sites available in the literature by using the program Genepalette 1.2 [ 83].
Because no truncating mutations passed our filters, further functional studies are required to assess whether any of the confirmed variants is ultimately a causal mutation, specifically those variants considered of interest because of their functional implications (missense and 3'UTR) and gene function.
