نتایج جستجو برای: repeat

تعداد نتایج: 73564  

Journal: :Science 2014
Sarah Mizielinska Sebastian Grönke Teresa Niccoli Charlotte E Ridler Emma L Clayton Anny Devoy Thomas Moens Frances E Norona Ione O C Woollacott Julian Pietrzyk Karen Cleverley Andrew J Nicoll Stuart Pickering-Brown Jacqueline Dols Melissa Cabecinha Oliver Hendrich Pietro Fratta Elizabeth M C Fisher Linda Partridge Adrian M Isaacs

An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is driven by the repeat RNA itself and/or by dipeptide repeat proteins generated by repeat-associated, non-ATG translation. To address this question, we developed in vitro and in vivo models to dissect repeat RNA and dipep...

Journal: :Journal of medical genetics 1993
M E MacDonald G Barnes J Srinidhi M P Duyao C M Ambrose R H Myers J Gray P M Conneally A Young J Penney

Instability of a CAG repeat in 4p16.3 has been found in Huntington's disease (HD) chromosomes. Unlike a similar repeat in the fragile X syndrome, the expanded HD repeat showed no evidence of somatic instability in a comparison of blood, lymphoblast, and brain DNA from the same persons. Four pairs of monozygotic HD twins displayed identical CAG repeat lengths suggesting that repeat size is deter...

2017
Maartje Visser Fleur van Aar Femke D H Koedijk Carolina J G Kampman Janneke C M Heijne

BACKGROUND Chlamydia infections are common in both men and women, are often asymptomatic and can cause serious complications. Repeat testing in high-risk groups is therefore indicated. In the Netherlands, guidelines on repeat chlamydia testing differ between testing facilities, and knowledge on repeat testing behaviour is limited. Here, we analyse the current repeat testing behaviour of heteros...

2018
Jong Wook Kim Young Dae Bae Sun Tae Ahn Jin Wook Kim Je Jong Kim Du Geon Moon

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 populations. This study was designed to evaluate the relationship between AR CAG repeat length polymorphism and MS in a Korean male population. ...

Journal: :Human molecular genetics 2000
D C Crawford B Wilson S L Sherman

The fragile X syndrome is one of more than a dozen genetic diseases attributed to the amplification of a trinucleotide repeat. Despite the number of these disease loci, relatively little is known about the mechanism(s) that cause a stable allele to become unstable. Population and family studies of the fragile X CGG repeat have identified a number of factors that may play a role in repeat instab...

2016
Anna Nielsen Gaetano Marrone Ayesha De Costa

BACKGROUND Widespread testing and screening for genital Chlamydia trachomatis is often advocated as an important method to halt the epidemic. Sweden has long tradition of opportunistic screening services. Nevertheless infections rates have continued to rise over the past two decades, despite increased access to testing and treatment services. METHODS In this retrospective cohort study we desc...

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