نتایج جستجو برای: cag repeats

تعداد نتایج: 27776  

Journal: :Cancer research 2005
Kathryn L Terry Immaculata De Vivo Linda Titus-Ernstoff Mei-Chiung Shih Daniel W Cramer

Biological and epidemiologic evidence suggest that androgen or its receptor may play a role in ovarian cancer pathogenesis. The most notable genetic factor influencing androgen receptor (AR) activity is the functional cytosine, adenine, guanine (CAG) repeat in which length is inversely proportional to its transactivational activity. Additional genetic variation due to single nucleotide polymorp...

2015
Shi-Rui Gan Wang Ni Yi Dong Ning Wang Zhi-Ying Wu Xiao-Jiang Li

Spinocerebellar ataxia type 3 (SCA3), also called Machado-Joseph disease (MJD), is one of the most common SCAs worldwide and caused by a CAG repeat expansion located in ATXN3 gene. Based on the CAG repeat numbers, alleles of ATXN3 can be divided into normal alleles (ANs), intermediate alleles (AIs) and expanded alleles (AEs). It was controversial whether the frequency of large normal alleles (l...

2018
Melissa R Koch Nealia C M House Casey M Cosetta Robyn M Jong Christelle G Salomon Cailin E Joyce Elliot A Philips Xiaofeng A Su Catherine H Freudenreich

CAG/CTG trinucleotide repeats are unstable sequences that are difficult to replicate, repair, and transcribe due to their structure-forming nature. CAG repeats strongly position nucleosomes; however, little is known about the chromatin remodeling needed to prevent repeat instability. In a Saccharomyces cerevisiae model system with CAG repeats carried on a YAC, we discovered that the chromatin r...

Journal: :Journal of neurology, neurosurgery, and psychiatry 2010
Justus L Groen Rob M A de Bie Elisabeth M J Foncke Raymund A C Roos Klaus L Leenders Marina A J Tijssen

Huntington disease (HD) is a neurodegenerative disorder associated with an expanded CAG trinucleotide repeat length in the huntingtin gene. 'Intermediate alleles' with 27 to 35 CAG repeats generally do not cause HD but are unstable upon germ-line transmission. Insights in CAG repeat mosaicism and enhanced trinucleotide expansion in postmitotic neurons indicate that in the intermediate range, ot...

Journal: :Human molecular genetics 1997
G Cancel A Dürr O Didierjean G Imbert K Bürk A Lezin S Belal A Benomar M Abada-Bendib C Vial J Guimarães H Chneiweiss G Stevanin G Yvert N Abbas F Saudou A S Lebre M Yahyaoui F Hentati J C Vernant T Klockgether J L Mandel Y Agid A Brice

Spinocerebellar ataxia 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. One hundred and eighty four index patients with autosomal dominant cerebellar ataxia type I were screened for this mutation. We found expansion in 109 patients from 30 families of different geographical origins (15%) and in two isolated cases with no known family histories (2%). ...

Journal: :International Journal of Molecular Sciences 2015

2015
Qixing Mao Mantang Qiu Gaochao Dong Wenjie Xia Shuai Zhang Youtao Xu Jie Wang Yin Rong Lin Xu Feng Jiang

The association between polymorphic CAG repeats in the androgen receptor gene in women and breast cancer susceptibility has been studied extensively. However, the conclusions regarding this relationship remain conflicting. The purpose of this meta-analysis was to identify whether androgen receptor CAG repeat lengths were related to breast cancer susceptibility. The MEDLINE, PubMed, and EMBASE d...

Journal: :Journal of neurochemistry 2005
Bruce G Jenkins Ole A Andreassen Alpaslan Dedeoglu Blair Leavitt Michael Hayden David Borchelt Christopher A Ross Robert J Ferrante M Flint Beal

Huntington's disease is a neurodegenerative illness caused by expansion of CAG repeats at the N-terminal end of the protein huntingtin. We examined longitudinal changes in brain metabolite levels using in vivo magnetic resonance spectroscopy in five different mouse models. There was a large (>50%) exponential decrease in N-acetyl aspartate (NAA) with time in both striatum and cortex in mice wit...

Journal: :Annals of the rheumatic diseases 1999
T Kawasaki T Ushiyama H Ueyama K Inoue K Mori I Ohkubo S Hukuda

OBJECTIVE In view of the possible role of androgens in the pathogenesis of rheumatoid arthritis (RA), this study investigated the association between repeat lengths of CAG microsatellites of the androgen receptor (AR) gene and RA. METHODS The number of CAG repeats in exon 1 of the AR gene was determined in 90 men and 276 women with RA, as well as in 305 male and 332 female controls. RESULTS...

Objective(s) Varicocele is associated with impaired testicular function and male infertility, but the molecular mechanisms by which fertility is affected have not been satisfactorily explained. The aim of our study was to investigate whether or not the polymerase gamma (POLG) polymorphism is associated with Iranian varicocele patients.    Materials and Methods We determined the POLG CAG repe...

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