نتایج جستجو برای: trinucleotide

تعداد نتایج: 1983  

2012
Gagan B. Panigrahi Meghan M. Slean Jodie P. Simard Christopher E. Pearson

Background: Slipped-DNAs are mutagenic intermediates in disease-causing trinucleotide repeat instability; their processing is not well understood. Results: MutLα is required to repair single short slip-outs, and enhances repair of clustered slipouts. Conclusion: Aberrant mismatch repair attempts on clustered slip-outs may cause repeat instability. Significance: This work has determined one of t...

2014
Martyna O Urbanek Paulina Galka-Marciniak Marta Olejniczak Wlodzimierz J Krzyzosiak

Numerous types of transcripts perform multiple functions in cells, and these functions are mainly facilitated by the interactions of the RNA with various proteins and other RNAs. Insight into the dynamics of RNA biosynthesis, processing and cellular activities is highly desirable because this knowledge will deepen our understanding of cell physiology and help explain the mechanisms of RNA-media...

Journal: :Movement disorders : official journal of the Movement Disorder Society 2007
Christopher Kenney Suzanne Powell Joseph Jankovic

Huntington's disease (HD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of HD; 30 to 35 repeats represent an intermediate range. Here we report a 65-year-old male with autopsy-proven HD and 29 CAG repeats.

Journal: :Journal of Cardiothoracic Surgery 2008
Abdallah Fayssoil

Myotonic dystrophy type 1 (Steinert's disease) is a multisystem disorder with autosomal dominant inheritance. This disease is associated with the presence of an abnormal expansion of a cytosine thymine-guanine (CTG) trinucleotide repeat on chromosome 19q13.3. Because of rhythmic complications, the place for systematic electrophysiological study (EPS) has to be discussed.

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