Sentence examples for repeat interruptions from inspiring English sources

Landrian I, McFarland KN, Liu J, Mulligan CJ, Rasmussen A, Ashizawa T. Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions.

Notwithstanding, the constancy revealed by the flanking SNP haplotype and the repeat interruptions, suggests the involvement of gene conversion events in the generation of expanded alleles [15].

Age of disease onset in subjects with ALS and 3 CAA repeat interruptions, compared to those with fewer, revealed that the age of onset was significantly earlier; age of disease onset also differed by haplotype.

Similarly, human and mouse COL4A2 have 23 conserved repeat interruptions that align with those in COL4A1.

Both segments (A and B in Figure 2a) contain approximately 60 repeat interruptions (mainly single nucleotide substitutions).

Human and mouse COL4A1 have 21 positionally conserved repeat interruptions that divide the collagenous domain into 22 sub-domains.

A different picture might be revealed by characterization of repeat interruption patterns at each SCA locus in that population.

Repeat interruption characteristics are not commonly studied, but reporting overall repeat lengths in the absence of repeat interruption patterns may be quite misleading in studies of allele lengths as they relate to disease prevalence in a given population [ 37, 70, 90].

We identified a splice acceptor site mutation that leads to skipping of exon 41 during mRNA processing, which results in a 17-amino-acid deletion (p.G1169_K1185del) that contains a Gly-X-Y repeat interruption (79).

As has been expertly laid out by Sobczak and Krzyzosiak [ 37] repeat interruption patterns in a given target can differ between populations, even when Q-tract length distributions are similar.

For instance, the COL4A1Δex41 mutant protein, which is missing 17 amino acids from the collagenous domain, including a repeat interruption, has a very strong effect on intracellular retention of COL4A1 and COL4A2 and mice with this mutation tend to have more severe phenotypes (79, 101, 105).