Results 11 to 20 of about 25,953 (158)

In Vitro Expansion of CAG, CAA, and Mixed CAG/CAA Repeats [PDF]

International Journal of Molecular Sciences, 2015
Polyglutamine diseases, including Huntington’s disease and a number of spinocerebellar ataxias, are caused by expanded CAG repeats that are located in translated sequences of individual, functionally-unrelated genes. Only mutant proteins containing polyglutamine expansions have long been thought to be pathogenic, but recent evidence has implicated ...
Grzegorz Figura, Edyta Koscianska, Wlodzimierz Krzyzosiak   +2 more
openaire   +2 more sources

P142 Androgen Receptor Reduced Sensitivity is Associated with Cardiovascular Mortality in Men with Type 2 Diabetes - A 14-year Follow up Study

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, Ghasem Yadegarfar, Mark Livingston, Helene Fachim, Ram Prakash Narayanan, Mark Lunt, Kirk Siddals, Gabriela Cortes, Martin Gibson, Rachelle Donn, Simon Anderson, Geoff Hackett, Hugh Jones   +12 more
doaj   +2 more sources

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, S S, Reinke, D M, Livingston   +2 more
openaire   +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, K, Sakoe, M, Amaike, M, Soutome, T, Ogawa, I, Nakano, M, Nishizawa   +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, Sobczak, Krzysztof, Wojciechowska, Marzena, Kozlowski, Piotr, Krzyzosiak, Wlodzimierz J.   +4 more
openaire   +2 more sources

Unusual structures are present in DNA fragments containing super-long Huntingtin CAG repeats. [PDF]

PLoS ONE, 2011
In the R6/2 mouse model of Huntington's disease (HD), expansion of the CAG trinucleotide repeat length beyond about 300 repeats induces a novel phenotype associated with a reduction in transcription of the transgene.We analysed the structure of ...
Daniel Duzdevich, Jinliang Li, Jhoon Whang, Hirohide Takahashi, Kunio Takeyasu, David T F Dryden, A Jennifer Morton, J Michael Edwardson   +7 more
doaj   +1 more source

Atypical course of Parkinson’s disease with clinical manifestations of Huntington’s disease in a patient with an allele of 27 CAG repeats in the HTT gene

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, E. Yu. Bragina, M. S. Nazarenko, N. G. Zhukova, D. E. Gomboeva, K. F. Nurzhanova, N. V. Tsentr, V. M. Alifirova   +7 more
doaj   +1 more source

Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liver.

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, Ricardo Mouro Pinto, Tammy Gillis, Jason C St Claire, Vanessa C Wheeler   +4 more
doaj   +1 more source

Association of allele variants of receptor gene of androgens (by the number of CAG-repeats) with androgen dependent hormonal metabolic indices of the organism [PDF]

The Ukrainian Biochemical Journal, 2015
This review discusses up-to-date conceptions concerning an association of androgen receptor gene (AR) allele (by the number of CAG-repeats) variations with the change of the receptor activity in humans.
V. V. Korpachev, S. V. Melnychenko, R. G. Lukashova   +2 more
doaj   +1 more source

Effect of Trinucleotide Repeats in the Huntington's Gene on Intelligence

EBioMedicine, 2018
Background: Huntington's Disease (HD) is caused by an abnormality in the HTT gene. This gene includes trinucleotide repeats ranging from 10 to 35, and when expanded beyond 39, causes HD.
Jessica K. Lee, Amy Conrad, Eric Epping, Kathy Mathews, Vincent Magnotta, Jeffrey D. Dawson, Peg Nopoulos   +6 more
doaj   +1 more source