Results 121 to 130 of about 39,855 (249)
Nature Communications, 2020 It is not yet clear how ubiquitously-expressed proteins can cause the selective degeneration of particular populations of neurons, such as in spinocerebellar ataxia type 17, SCA17, which results from a CAG trinucleotide repeat expansion in the ...
Qiong Liu +10 more
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Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]
, 2016 Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly +7 more
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, 2014 Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián +5 more
core +1 more source
Leukocyte telomere shortening in Huntington's disease [PDF]
, 2019 Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by an expanded CAG repeat. Though symptom onset commonly occurs at midlife and inversely correlates with the CAG repeat expansion, age at clinical onset and progression ...
Corbo, Rm. +5 more
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PLoS Computational Biology, 2015 Conformational polymorphism of DNA is a major causative factor behind several incurable trinucleotide repeat expansion disorders that arise from overexpansion of trinucleotide repeats located in coding/non-coding regions of specific genes.
Noorain Khan +2 more
doaj +1 more source
Transcription as a Threat to Genome Integrity [PDF]
, 2016 Genomes undergo different types of sporadic alterations, including DNA damage, point mutations, and genome rearrangements, that constitute the basis for evolution.
Aguilera López, Andrés +1 more
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Oxidative stress parameters in plasma of Huntington's disease patients, asymptomatic Huntington's disease gene carriers and healthy subjects : a cross-sectional study [PDF]
, 2007 BACKGROUND : Animal data and postmortem studies suggest a role of oxidative stress in the Huntington's disease (HD), but in vivo human studies have been scarce.
Babić, Tomislav +5 more
core +1 more source
Brain : a journal of neurology, 1997 Fifty-six patients with a clinical diagnosis of Friedreich's ataxia were investigated for the GAA trinucleotide repeat expansion recently found within the gene X25 on chromosome 9.
P. Lamont, M. Davis, N. Wood
semanticscholar +1 more source
The Role of the Immune System in Triplet Repeat Expansion Diseases
Mediators of Inflammation, 2015 Trinucleotide repeat expansion disorders (TREDs) are a group of dominantly inherited neurological diseases caused by the expansion of unstable repeats in specific regions of the associated genes.
Marta Olejniczak +2 more
doaj +1 more source
Macular Degeneration Associated With Aberrant Expansion of Trinucleotide Repeat of the SCA7 Gene in 2 Japanese Families [PDF]
, 2000 Toshiaki Abe
openalex +1 more source