This results in a range of gencDNA APP variants, some lacking one or more exons.
Finally, an immunoselected variant of SB x CEM.1 (a hybrid of a subline of CEM and SB) lacking one copy of chromosome 6 and one of the hybrid's novel HLA-DR specificities also lacks a class I antigen known to be encoded by CEM.
To test whether gap junctions in astrocytes are involved, we recorded from NPY cells in three lines of mice lacking one or both of the two main connexins in astrocytes: Cx30KO, Cx43floxKO, and Cx43flox/Cx30 KO (each crossed with NPY-GFP mice, as well as GFAP-Cre mice for the flox variants).
The anaerobic activity of the C122A FNR variant, which lacks one essential iron sulfur cluster co-ordinating cysteine residue, was close to that of the vector control, suggesting that this variant fails to acquire a [4Fe-4S] cluster in vivo.
Because, one of the splice variants lacking exons 12 and 14 induced frame-shift and PTC, it is possible that canine BRCA2 mRNA levels were reduced by these splice variants inducing PTC and the NMD system.
We then utilized primers targeting variants lacking exon 4 (variants 1 and 3, Figure 2B).
As summarized in Table 3, all the currently available platforms lack one or more of the essential aspects of variant interpretation present in VariantDB.
One of the salient distinctions between disease and neutral variants is that disease variants generally occur on much conserved sites whereas the positions of neutral variants lack such restriction [ 3, 10].
Several alternatively spliced variants of hTERT have been identified (Kilian et al, 1997; Ulaner et al, 1998; Wick et al, 1999; Yi et al, 2001); one deletion site induces the α-deletion variant, lacking 36 bp from exon 6, and the other induces the β-deletion variant, lacking 182 bp from exons 7 and 8 (Yi et al, 2001).
