Results 101 to 110 of about 17,057 (211)

Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells [PDF]

open access: yes, 2013
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  

Analysis of trinucleotide repeats by long-read SMRT sequencing for RE-/FECD-.

open access: yes, 2019
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.

open access: yes, 2009
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

open access: yes, 2001
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]

open access: yesRSC Adv, 2022
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]

open access: yesBiochemistry, 2022
Dusek CO   +6 more
europepmc   +1 more source

Trinucleotide repeats and neuropsychiatric phenotypes

open access: yes, 2001
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

open access: yes, 2009
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
core  

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