نتایج جستجو برای: dna mutational analysis

تعداد نتایج: 3221390  

Journal: :Journal of Physical Chemistry Letters 2021

Apurinic/apyrimidinic sites are the most common forms of DNA damage under physiological conditions, yet their structural and dynamical behavior within nucleosome core particles has just begun to be investigated is dramatically different from that abasic in B-DNA. Clusters two or more repaired even less efficiently hence constitute hot spots high mutagenicity notably due enhanced double-strand b...

2015
XIAOGUO ZHANG LU LIU WANSU XU YUN WANG SHUCHUN GAO SHIJUN CHEN YIZHEN DU

Studies are limited regarding the association between the quantity of hepatitis virus B (HBV) DNA loads in serum and peripheral blood mononuclear cells (PBMCs) in patients with drug resistance and few studies focus on the mutational pattern of the polymerase gene of HBV in PBMCs of patients with drug resistance. The aim of the present study was to investigate the association between the quantit...

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...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2012
Kei Kitahara Yoshiaki Yasutake Kentaro Miyazaki

The bacterial ribosome consists of three rRNA molecules and 57 proteins and plays a crucial role in translating mRNA-encoded information into proteins. Because of the ribosome's structural and mechanistic complexity, it is believed that each ribosomal component coevolves to maintain its function. Unlike 5S rRNA, 16S and 23S rRNAs appear to lack mutational robustness, because they form the struc...

2014
Jae-We Cho Han-Won Ryu Sung-Ae Kim Hajime Nakano Kyu-Suk Lee

Epidermolysis bullosa simplex (EBS), an inherited genetic disorder, is most often caused by a dominant-negative mutation in either the keratin 5 (KRT5) or the keratin 14 (KRT14) gene. These keratin mutants result in a weakened cytoskeleton and cause extensive cytolysis. It is important to analyze the KRT5 or KRT14 genes of the patient and their family members by mutational analysis in order to ...

Journal: :Molecular and cellular biology 1999
B K Singleton M I Torres-Arzayus S T Rottinghaus G E Taccioli P A Jeggo

Ku is a heterodimeric protein with double-stranded DNA end-binding activity that operates in the process of nonhomologous end joining. Ku is thought to target the DNA-dependent protein kinase (DNA-PK) complex to the DNA and, when DNA bound, can interact and activate the DNA-PK catalytic subunit (DNA-PKcs). We have carried out a 3' deletion analysis of Ku80, the larger subunit of Ku, and shown t...

Journal: :Journal of virology 2004
Ellora Sen Samina Alam Craig Meyers

Using linker scanning mutational analysis, we recently identified potential cis regulatory elements contained within the 5' upstream regulatory region (URR) domain and auxiliary enhancer (AE) region of the human papillomavirus type 31 (HPV31) URR involved in the regulation of E6/E7 promoter activity at different stages of the viral life cycle. For the present study, we extended the linker scann...

Journal: :Cell 2016
Nicholas J. Haradhvala Paz Polak Petar Stojanov Kyle R. Covington Eve Shinbrot Julian M. Hess Esther Rheinbay Jaegil Kim Yosef E. Maruvka Lior Z. Braunstein Atanas Kamburov Philip C. Hanawalt David A. Wheeler Amnon Koren Michael S. Lawrence Gad Getz

Mutational processes constantly shape the somatic genome, leading to immunity, aging, cancer, and other diseases. When cancer is the outcome, we are afforded a glimpse into these processes by the clonal expansion of the malignant cell. Here, we characterize a less explored layer of the mutational landscape of cancer: mutational asymmetries between the two DNA strands. Analyzing whole-genome seq...

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