Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells [PDF]
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel UniversityFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene ...
Anjomani Virmouni, Sara
core
Diagrammatic approaches to RNA structures with trinucleotide repeats. [PDF]
Mak CH, Phan ENH.
europepmc +1 more source
Structure and Dynamics of DNA and RNA Double Helices Formed by d(CTG), d(GTC), r(CUG), and r(GUC) Trinucleotide Repeats and Associated DNA-RNA Hybrids. [PDF]
Fakharzadeh A +4 more
europepmc +1 more source
Analysis of trinucleotide repeats by long-read SMRT sequencing for RE-/FECD-.
a. CAG repeat lengths in representative RE-/FECD- sample 663. Repeat count histogram showing two peaks at 19 and 31 repeats agrees well with the results of STR analysis (18 and 30 repeats). b. CAG repeat lengths versus the number of zero-mode waveguides (
Shubham Basu (6920210) +12 more
core +1 more source
Instability and chromatin structure of expanded trinucleotide repeats.
Trinucleotide repeat expansion underlies at least 17 neurological diseases. In affected individuals, the expanded locus is characterized by dramatic changes in chromatin structure and in repeat tract length.
Wilson, JH, Dion, V
core +2 more sources
Role for CCG-trinucleotide repeats in the pathogenesis of chronic lymphocytic leukemia
Chromosome 11q deletions are frequently observed in chronic lymphocytic leukemia (CLL) in association with progressive disease and a poor prognosis. A minimal region of deletion has been assigned to 11q22-q23.
Syndercombe Court, Denise +6 more
core +1 more source
PNA microprobe for label-free detection of expanded trinucleotide repeats. [PDF]
Asefifeyzabadi N +5 more
europepmc +1 more source
DNA Sequence Specificity Reveals a Role of the HLTF HIRAN Domain in the Recognition of Trinucleotide Repeats. [PDF]
Dusek CO +6 more
europepmc +1 more source
Trinucleotide repeats and neuropsychiatric phenotypes
Genetic studies of affective disorders have yielded several chromosomal regions suggestive for linkage. Linkage analysis was performed in five families with unipolar affective disorder, collected from northern Sweden.
Qiu-Ping Yuan (88254)
core
Instability of CAG and CTG trinucleotide repeats in Saccharomyces cerevisiae
A quantitative genetic assay was developed to monitor alterations in tract lengths of trinucleotide repeat sequences in Saccharomyces cerevisiae. Insertion of (CAG)50 or (CTG)50 repeats into a promoter that drives expression of the reporter gene ADE8 ...
Miret, Juan J. +2 more
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