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- DM1 Phenotype Variability and Triplet Repeat Instability . . . - MDPI
Recently, it was shown that the degree of somatic instability is lower in saliva (noninvasive sampling method) than in blood, with the difference being highest in DM1 patients with >150 CTG repeats
- MSH3 modifies somatic instability and disease severity in Huntington’s . . .
MSH3 has recently been identified as a genetic modifier of somatic instability in DM1 (Morales et al , 2016), and progression in Huntington’s disease (Moss et al , 2017)
- Frontiers | Repeat Interruptions Modify Age at Onset in Myotonic . . .
Herein, we characterized somatic instability of interrupted DMPK expansions and the effect on age at onset in our previously described patients Repeat-primed PCR showed stable structures of different types and patterns of repeat interruptions in blood cells over time and buccal cells
- A Genetic Modifier of DM1 | Myotonic Dystrophy Foundation
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients
- Myotonic dystrophy type 1 patient-derived iPSCs for the . . . - Nature
Therefore, in this study, to establish a human stem cell system suitable for the investigation of repeat instability, we acquired iPSCs from DM1 patients
- Overview of the Complex Relationship between Epigenetics Markers, CTG . . .
DM1 patients exhibit high variability in the dynamics of CTG repeat instability and in the manifestations and progression of the disease The largest expanded alleles are generally associated with the earliest and most severe clinical form
- Somatic Instability and Huntingtons Disease - Tocris Bioscience
As the process occurs in somatic cells, the term somatic instability was coined The activity of specific DNA repair proteins are known to influence the rate of somatic instability
- Somatic instability of the expanded CTG triplet repeat in myotonic . . .
Deciphering the contribution of genetic instability in somatic cells is critical to our understanding of many human disorders Myotonic dystrophy type 1 (DM1) is one such disorder that is caused by the expansion of a CTG repeat that shows extremely high levels of somatic instability
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