Importance: We report the first case to date of maternally transmitted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract of (CAG)45 expands to lengths as large as (CAG)92-250. Observation...
These data support a "linear lattice" model for poly(Gln), in which expanded poly(Gln) tracts have an increased number of ligand-binding sites as compared with normal poly(Gln). The linear lattice model provides a rationale for pathogenicity of expanded poly(Gln) tracts and a structural ...
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Additionally, TDP-43 binds directly and strongly with m1A in RNA, which stimulates the cytoplasmic mis-localization and formation of gel-like aggregates of TDP-43, resembling the observations made for the protein in neurological diseases. Moreover, m1A in CAG repeat RNA contributes to CAG ...
The phenomenon of 'genetic anticipation' is a hallmark of the (CTG)n•(CAG)n TNR instability disorders, in which an increase in the number of microsatellite repeats is correlated with an earlier age of onset and heightened severity of the disease in successive generations. Genetic anticipation ...
I) Will organize at least 2 fish-ins per year in the state which they serve. J) Once elected state chairs they may appoint an assistant(s) to help them. K) Shall serve as Electors as described in Article IV Section 2 when selecting a new President. ...
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 deleted and only 1 child from each family was included. The demographics of the group included 47 healthy children...
in which the contraction bias of TNRs with (CTG)n in the lagging strand template is not the result of lagging strand structure formation while single stranded, but is the result of extrusion of the leading strand (CAG)ntemplate and replication across the abasic bottom of the hairpin in ...
He advises the President with regard to prescription of the form in which the accounts of the Centre and States shall be kept. He submits his audit reports relating to the accounts of the Centre to the President, who shall, in turn, place them before both the ...
which encodes a structure-specific 5′ exo/endo-nuclease involved in interstrand crosslink (ICL) repair11. Candidate genes at other loci includeMSH3,MLH1,PMS1andLIG1, all of which function in DNA repair. In addition, the pure CAG length of the pathogenicHTTrepeat, rather than the length of...