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Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical researchCorrelation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC contentIncreased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility.MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease miceParental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.Using robots to find needles.Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study.Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down.Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington diseaseFunctional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion.Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR.Four-state MVR-PCR: increased discrimination of digital DNA typing by simultaneous analysis of two polymorphic sites within minisatellite variant repeats at D1S8.Allele-specific MVR-PCR analysis at minisatellite D1S8.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.Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss.Minisatellite isoalleles can be distinguished by single-stranded conformational polymorphism analysis in agarose gels.Myotonic dystrophy: an unstable CTG repeat in a protein kinase gene.DNA profiling.Chemically induced increases and decreases in the rate of expansion of a CAG*CTG triplet repeat.Unstable triplet repeat diseases.Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion.Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice.Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study.Brain imaging in myotonic dystrophy type 1: A systematic review.Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease.Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations.Muscleblind isoforms are functionally distinct and regulate alpha-actinin splicing.Noncanonical RNAs from transcripts of the Drosophila muscleblind gene.Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila.Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome.Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm.Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Darren G Monckton
@ast
Darren G Monckton
@en
Darren G Monckton
@es
Darren G Monckton
@nl
type
label
Darren G Monckton
@ast
Darren G Monckton
@en
Darren G Monckton
@es
Darren G Monckton
@nl
prefLabel
Darren G Monckton
@ast
Darren G Monckton
@en
Darren G Monckton
@es
Darren G Monckton
@nl
P1053
B-4943-2013
P106
P21
P31
P3829
P496
0000-0002-8298-8264