Results 31 to 40 of about 17,057 (211)
Trinucleotide repeats and neuropsychiatric disorders [PDF]
Indian Journal of Clinical Biochemistry, 2000 Expansions of trinucleotide repeats at the level of genomic DNA are increasingly recognized as a cause of a number of neuropsychiatric disorders. Triplet repeat disorders are commonly classified into two groups, those with moderate CAG expansions that result in a polyglutamine stretch in the gene products and those with very long expansions, usually ...
K T, Shetty, R, Christopher
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DNA methylation and trinucleotide repeat expansion diseases [PDF]
, 2012 Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M, Mark A. Pook, Mark A.
core +1 more source
Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
Genome Medicine, 2017 Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably.
Qian Liu +4 more
doaj +1 more source
Epigenetics and triplet repeat neurological diseases
Frontiers in Neurology, 2015 The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Sathiji eNageshwaran +1 more
doaj +1 more source
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
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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
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
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
, 2010 peer-reviewedBackground: About forty human diseases are caused by repeat instability mutations. A distinct subset of these diseases is the result of extreme expansions of polymorphic trinucleotide repeats; typically CAG repeats encoding poly-glutamine ...
Herman Raadsma +30 more
core +1 more source