نتایج جستجو برای: triplet repeat primed

تعداد نتایج: 96107  

2012
Emmanuele Crespan Tibor Czabany Giovanni Maga Ulrich Hübscher

'Classical' non-homologous end joining (NHEJ), dependent on the Ku70/80 and the DNA ligase IV/XRCC4 complexes, is essential for the repair of DNA double-strand breaks. Eukaryotic cells possess also an alternative microhomology-mediated end-joining (MMEJ) mechanism, which is independent from Ku and DNA ligase 4/XRCC4. The components of the MMEJ machinery are still largely unknown. Family X DNA p...

2017
Caroline Chong - Nguyen Karim Wahbi Vincent Algalarrondo Henri Marc Bécane Hélène Radvanyi - Hoffman Pauline Arnaud Denis Furling Guillaume Bassez Anthony Béhin Abdallah Fayssoil Pascal Laforêt Tanya Stojkovic Bruno Eymard Denis Duboc

With a 1:8000 incidence, myotonic dystrophy type 1 (DM1), also known as Steinert’s disease, is the most common neuromuscular disease in adults. This autosomal, dominant disorder is caused by the expansion of a (CTG) n triplet repeat in the 3′ untranslated region of the DMPK gene. The manifestations of the disease include muscle wasting and weakness, myotonia, multiple endocrine disorders, respi...

2008
Arjun K. Manrai

Polymorphisms are DNA variations between different individuals of the same species. There are several types of polymorphisms, including single nucleotide polymorphisms (SNPs), variable number tandem repeats, insertions and deletions, large-scale polymorphisms, and copy number variants. In addition to helping explain the genetic basis of our diversity, understanding polymorphisms is also medical...

باقری, مولود , حسین زاده کلاگر, اباصلت, صحبت زاده, فرشاد , فرهادی, معصومه, مرتضوی, محسن, مطلبی, سمانه, معماریانی, حامد, میرزانژاد, سعید , ولی نتاج عمران, آزاده ,

In this paper, construction of triplet atmospheric plasma jet using argon, air, oxygen and nitrogen gases is reported. Bactericidal effect of the plasma jet is also investigated. To that end, longitudinal geometric configuration for the electrodes was chosen because it would increase the jet length. Electrical characteristics, jet length dependencies on the applied voltage and gas flow rate wer...

2013
Karen Nuytemans Güney Bademci Martin M Kohli Gary W Beecham Liyong Wang Juan I Young Fatta Nahab Eden R Martin John R Gilbert Michael Benatar Jonathan L Haines William K Scott Stephan Züchner Margaret A Pericak-Vance Jeffery M Vance

We set out to determine whether expansions in the C9ORF72 repeat found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) families are associated with Parkinson disease (PD). We determined the repeat size in a total of 889 clinically ascertained patients (including PD and essential tremor plus Parkinsonism (ETP)) and 1144 controls using a repeat-primed PCR assay. We found ...

Journal: :Genetics 2011
Joonil Jung Marijn T M van Jaarsveld Shin-Yi Shieh Kexiang Xu Nancy M Bonini

Trinucleotide repeat instability underlies >20 human hereditary disorders. These diseases include many neurological and neurodegenerative situations, such as those caused by pathogenic polyglutamine (polyQ) domains encoded by expanded CAG repeats. Although mechanisms of instability have been intensely studied, our knowledge remains limited in part due to the lack of unbiased genome-wide screens...

پایان نامه :دانشگاه آزاد اسلامی - دانشگاه آزاد اسلامی واحد یزد - دانشکده شیمی 1392

krytyn triplet alkyl esters ayzvsyanydha reactions and lead to the production of acetylene is stable.

Journal: :Nature Communications 2021

Abstract Expansions of CAG/CTG trinucleotide repeats in DNA are the cause at least 17 degenerative human disorders, including Huntington’s Disease. Repeat instability is thought to occur via formation intrastrand hairpins during replication, repair, recombination, and transcription though relatively little known about their structure dynamics. We use single-molecule Förster resonance energy tra...

Journal: :Vaccines 2023

With concerns about the efficacy of repeat annual influenza vaccination, it is important to better understand impact priming vaccine immunity and develop an effective vaccination strategy. Here, we determined heterologous prime-boost on inducing broader protective compared with same antigen. The primed mice that were intramuscularly boosted a inactivated A virus (H1N1, H3N2, H5N1, H7N9, H9N2) s...

2008
Laura M. Pollard Rebecka L. Bourn Sanjay I. Bidichandani

Friedreich ataxia is caused by an expanded (GAA*TTC)n sequence, which is unstable during intergenerational transmission and in most patient tissues, where it frequently undergoes large deletions. We investigated the effect of DSB repair on instability of the (GAA*TTC)n sequence. Linear plasmids were transformed into Escherichia coli so that each colony represented an individual DSB repair event...

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