These results support the p.Arg86Ter variant as the likely causes of the 46, XY sex reversal phenotype in case #4. The SRY gene is intronless and it has been described that nonsense codons generated in intronless genes are immune to nonsense mediated decay (Maquat et al., 2001). It ...
Pyrosequencing methylation assays for the ZPBP2 promoter/enhancer region were carried as previously described [6, 28]. The assay interrogates 11 CGs located near the transcriptional start site of ZPBP2 (Additional file 5: Figure S2). This region is referred to as ZPBP2 DMR from this point ...
The karyotype of the studied case was described as: 38,XX.ish der(X)t(X;Y)(p22;p12)(SRY+). Moreover, the X inactivation status assessed by a sequential R-banding and FISH with the SRY-specific probe showed a random inactivation of the derivative XSRY chromosome. Conclusions Our study ...
We then searched these potential somatic mutations and LOHs in the ENSEMBL and dbSNP databases (ver.CanFam2.0) to eliminate the known somatic mutations and LOHs that were previously described as germline variants and filtered out the variants located in repeated regions of the dog genome. Detection...
Bisulfite Restriction Mapping and Sequencing—The bisulfite reaction, in which cytosine is converted to uracil and 5′-methylcytosine remains non-reactive (30), was carried out as described previously (22, 23). In brief, the HindIII-digested genomic DNAs were initially denatured with 0.3 m NaOH...
In Columbus’ letter to Lord Sanchez, he described the people as “savages, [who are] naturally timid and full of fear” (document 13). In document 2, his letter to Santangel, he goes so far as to say that when he tried to establish trading relationships with the Indians they acted ...
By going across the continent, he painted different landscapes as important records in his days. In the book The Last Mountain, the Life of Robert Wood, Flume described how Wood Painted. His painting style is between Realism and Abstractionism and liked to explore the truth or the ‗heart'...
The main idea behind crypto is to allow peer-to-peer (p2p) payments at any time, while eliminating intermediaries. Let’s start with a particular example provided by Jameson Lopp, the lead engineer at multisignature blockchain security firm BitGo. Hedescribeda typical holiday in the U.S. —...
“rivals”, according to Judge Grim in a case a twenty years back over television policies within the NFL, he described that the professional teams “must not compete too well with each other in a business was, but on the playing field they must compete as hard as they can at all times...
(the "Gallup Shares") and [ ] shares (the "Hall Shares") of such Common Stock, respectively; WHEREAS, the Founders believe that it is in the best interest of the stockholders of the Corporation to provide for continuity in the management and stock ownership of the Corporation; NOW, ...