The purpose of this report is not to identify any specific laboratory, but rather to address the question of whether the problem is wide- spread or confined to just a few laboratories. The observation that the number of laboratories with discrepancies outside the proposed ACMG- and BPG-...
Here we report a compound, naphthyridine-azaquinolone (NA), that specifically binds slipped-CAG DNA intermediates of expansion mutations, a previously unsuspected target. NA efficiently induces repeat contractions in HD patient cells as well as en masse contractions in medium spiny neurons of HD ...
Participants ages 6-12 years signed both an assent form (language geared toward children) and the consent form. Several children who participated were siblings and to avoid the confound of genetic relatedness, in the cases in which there were 1 or more siblings, the participants were randomly ...
Download: Download full-size image Figure 2. SCA3 RAN polyQ proteins form aggregates. (a) Representative images of immunofluorescence staining for AUG-initiated and RAN polyQ proteins (green signal, anti-HA antibody) and RAN polyA proteins (red signal, anti-Myc antibody) in the HEK293T cells ...
3.Amendment of Outstanding Notes. Each outstanding Note is hereby amended and restated as substantially set forth in the form attached hereto as Exhibit A-1, with such amendment and restatement effective as of the date of this Amendment.
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Furthermore, the rate of instability of the CTG•CAG repeat in DM1 is correlated to repeat length and is probably due to an increased ability of the repeat sequence to form aberrant DNA structures, such as slipped strand structures with out-of-register alignment of the complementary strands, ...
Studies of hairpin formation by triplet repeat sequences have shown that (CNG)n triplet repeats can form hairpin structures by N:N mispairing in the stem-loop (N = the nucleotide, A, G, C, T and n = the number of repeats) (Mitas,1997). T:T mispairing (CTG repeats) can make two...