Results 21 to 30 of about 507 (138)
Trinucleotide repeats and neurodegenerative disease [PDF]
Brain, 2004 Major insights have been attained into the molecular pathology of the trinucleotide repeat neurodegenerative diseases over the past decade. Genetic definition has allowed subclassification into translated polyglutamine diseases, which are due to CAG repeat expansions, and a more heterogeneous group in which the trinucleotide repeat remains untranslated.
C M, Everett, N W, Wood
openaire +2 more sources
A universal mechanism ties genotype to phenotype in trinucleotide diseases.
PLoS Computational Biology, 2007 Trinucleotide hereditary diseases such as Huntington disease and Friedreich ataxia are cureless diseases associated with inheriting an abnormally large number of DNA trinucleotide repeats in a gene.
Shai Kaplan +2 more
doaj +1 more source
Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report
Annals of Movement Disorders, 2020 DRPLA (dentatorubral–pallidoluysian atrophy) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansion (>48) in ATN1 gene at 12p13.31 locus inherited in an autosomal-dominant manner.
Pooja Sharma +10 more
doaj +1 more source
Positive Correlation between Androgen Receptor CAG Repeat Length and Metabolic Syndrome in a Korean Male Population [PDF]
The World Journal of Men's Health, 2018 Purpose: In epidemiological studies, there are various associations of androgen receptor (AR) CAG with several diseases or phenotypes. However, the relationship between CAG repeat length and metabolic syndrome (MS) remains unclear, especially in Asian ...
Jong Wook Kim +5 more
doaj +1 more source
New functions of Ctf18-RFC in preserving genome stability outside its role in sister chromatid cohesion. [PDF]
PLoS Genetics, 2011 Expansion of DNA trinucleotide repeats causes at least 15 hereditary neurological diseases, and these repeats also undergo contraction and fragility. Current models to explain this genetic instability invoke erroneous DNA repair or aberrant replication ...
Lionel Gellon +6 more
doaj +1 more source
Бюллетень сибирской медицины, 2021 Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disease. Its molecular cause is a cytosine-adenine-guanine (CAG) trinucleotide repeat dynamic expansion in the huntingtin (HTT) gene.
M. A. Nikitina +7 more
doaj +1 more source
Cell Reports, 2015 Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene.
Chul-Yong Park +7 more
doaj +1 more source
Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease [PDF]
Journal of Movement Disorders, 2011 Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene.
Dong-Seok Oh +5 more
doaj +1 more source
Expanded CAG/CTG repeat DNA induces a checkpoint response that impacts cell proliferation in Saccharomyces cerevisiae. [PDF]
PLoS Genetics, 2011 Repetitive DNA elements are mutational hotspots in the genome, and their instability is linked to various neurological disorders and cancers. Although it is known that expanded trinucleotide repeats can interfere with DNA replication and repair, the ...
Rangapriya Sundararajan +1 more
doaj +1 more source
Spinocerebellar ataxia 12 patients have better quality of life than spinocerebellar ataxia 1 and 2
Annals of Indian Academy of Neurology, 2022 Background: Spinocerebellar ataxia is a neurodegenerative disease. Information on comparative assessment of quality of life (QoL) among SCAs, particularly SCA 12, is scarce. We aimed to compare health-related QoL in SCA 1, 2 and 12. Methods: We conducted
Surekha Dabla +9 more
doaj +1 more source