Artery Research, 2020 Background Hypogonadism associates with increased cardiovascular morbidity/mortality in type 2 diabetes mellitus (T2DM) [1]. Increasing CAG repeat number within exon 1 of the androgen receptor gene associates with increased androgen receptor resistance ...
Adrian Heald +12 more
doaj +2 more sources
GFP-based fluorescence assay for CAG repeat instability in cultured human cells. [PDF]
PLoS ONE, 2014 Trinucleotide repeats can be highly unstable, mutating far more frequently than point mutations. Repeats typically mutate by addition or loss of units of the repeat.
Beatriz A Santillan +3 more
doaj +1 more source
Meiotic Alterations in CAG Repeat Tracts [PDF]
Genetics, 2001 Abstract We have investigated meiotic changes in CAG repeat tracts embedded in a yeast chromosome. Repeat tracts undergo either conversion events between homologs or expansion and contraction events that appear to be confined to a single chromatid.
J K, Schweitzer +2 more
openaire +2 more sources
A CAG repeat threshold for therapeutics targeting somatic instability in Huntington's disease [PDF]
BrainGeorgina Osborne +2 more
exaly +2 more sources
Single sperm analysis of the CAG repeats in the gene for dentatorubral- pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases [PDF]
Human Molecular Genetics, 1999 Dentatorubral-pallidoluysian atrophy (DRPLA) is known to show the most prominent genetic anticipation among CAG repeat diseases. To investigate the mechanism underlying the meiotic instability of expanded CAG repeats in the gene for DRPLA, we determined the CAG repeat sizes of 427 single sperm from two individuals with DRPLA.
Y, Takiyama +6 more
openaire +2 more sources
CAG repeats mimic CUG repeats in the misregulation of alternative splicing [PDF]
Nucleic Acids Research, 2011 Mutant transcripts containing expanded CUG repeats in the untranslated region are a pathogenic factor in myotonic dystrophy type 1 (DM1). The mutant RNA sequesters the muscleblind-like 1 (MBNL1) splicing factor and causes misregulation of the alternative splicing of multiple genes that are linked to clinical symptoms of the disease.
Mykowska, Agnieszka +4 more
openaire +2 more sources
Androgen receptor CAG repeat polymorphism and epigenetic influence among the south Indian women with Polycystic Ovary Syndrome. [PDF]
PLoS ONE, 2010 The present study was carried out to assess the role of androgen receptor CAG repeat polymorphism and X chromosome inactivation (XCI) pattern among Indian PCOS women and controls which has not been hitherto explored and also to test the hypothesis that ...
Shilpi Dasgupta +6 more
doaj +1 more source
PLoS ONE, 2011 BackgroundAge at onset of Huntington's disease (HD) is largely determined by the CAG trinucleotide repeat length in the HTT gene. Importantly, the CAG repeat undergoes tissue-specific somatic instability, prevalent in brain regions that are disease ...
Jong-Min Lee +4 more
doaj +1 more source
MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice. [PDF]
PLoS Genetics, 2013 Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to ongoing disease progression through an affected individual's life with Huntington's disease or myotonic dystrophy.
Stéphanie Tomé +10 more
doaj +1 more source
The number of androgen receptor CAG repeats and mortality in men
The Aging Male, 2022 Introduction The androgen receptor (AR) mediates peripheral effects of testosterone. Evidence suggests that the number of CAG repeats in exon-1 of the AR gene negatively correlates with AR transcriptional activity.
Adrian Heald +8 more
doaj +1 more source