Results 31 to 40 of about 299,286 (332)

Nucleic acid mutation analysis using catalytic DNA

Nucleic Acids Research, 2000
The sequence specificity of the '10-23' RNA-cleaving DNA enzyme (deoxyribozyme) was utilised to discriminate between subtle differences in nucleic acid sequence in a relatively conserved segment of the L1 gene from a number of different human papilloma virus (HPV) genotypes.
M J, Cairns, A, King, L Q, Sun
openaire   +3 more sources

Ancient DNA Analysis of the Delta F508 Mutation

Human Biology, 2003
When working with highly degraded DNA, validating the results of a slightly polymorphic system always complicates the analysis because of the difficulties in recognizing contamination and artifacts. Recognition can be greatly simplified by employing a multiplex reaction that coamplifies the fragments together with several highly polymorphic markers ...
Bramanti, B, Hummel, S, Chiarelli, B, Herrmann, B   +3 more
openaire   +4 more sources

Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data. [PDF]

, 2014
Breast cancer is one of the most commonly diagnosed cancers in women. While there are several effective therapies for breast cancer and important single gene prognostic/predictive markers, more than 40,000 women die from this disease every year.
Bainbridge, Matthew N, Brown, Powel H, Haricharan, Svasti, Scheet, Paul   +3 more
core   +1 more source

Mutational analysis of conserved residues in HhaI DNA methyltransferase [PDF]

Nucleic Acids Research, 2002
HhaI DNA methyltransferase belongs to the C5-cytosine methyltransferase family, which is characterized by the presence of a set of highly conserved amino acids and motifs present in an invariant order. HhaI DNA methyltransferase has been subjected to a lot of biochemical and crystallographic studies.
Sankpal, Umesh T, Rao, Desirazu N
openaire   +2 more sources

Hereditary sensory autonomic neuropathy Type VIII: A rare clinical presentation, genomics, diagnosis, and management in an infant

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2020
A 7-month-old female child born to nonconsanguineous parents with a history of global developmental delay, since early infancy had reported to the department with facial features of mild dysmorphism.
Shaik Hasanuddin, Gayatri Moghe, J Sharada Reddy   +2 more
doaj   +1 more source

Annotation of Genes Having Candidate Somatic Mutations in Acute Myeloid Leukemia with Whole-Exome Sequencing Using Concept Lattice Analysis [PDF]

Genomics & Informatics, 2013
In cancer genome studies, the annotation of newly detected oncogene/tumor suppressor gene candidates is a challenging process. We propose using concept lattice analysis for the annotation and interpretation of genes having candidate somatic mutations in ...
Kye Hwa Lee, Jae Hyeun Lim, Ju Han Kim
doaj   +1 more source

The Landscape of Actionable Genomic Alterations by Next-Generation Sequencing in Tumor Tissue Versus Circulating Tumor DNA in Chinese Patients With Non-Small Cell Lung Cancer

Frontiers in Oncology, 2022
BackgroundCirculating tumor DNA (ctDNA) sequence analysis shows great potential in the management of non-small cell lung cancer (NSCLC) and the prediction of drug sensitivity or resistance in many cancers.
Jun Cai, Huihui Jiang, Shuqing Li, Xiaoxia Yan, Meng Wang, Na Li, Cuimin Zhu, Hui Dong, Dongjuan Wang, Yue Xu, Hui Xie, Shouxin Wu, Jingwei Lou, Jiangman Zhao, Qingshan Li   +14 more
doaj   +1 more source

Simultaneous evolutionary expansion and constraint of genomic heterogeneity in multifocal lung cancer. [PDF]

, 2017
Recent genomic analyses have revealed substantial tumor heterogeneity across various cancers. However, it remains unclear whether and how genomic heterogeneity is constrained during tumor evolution.
Bivona, Trever G, Cai, Mei-Chun, Chen, Hong-Zhuan, Chen, Minjiang, Fu, Yujie, Gao, Wei-Qiang, Gu, Zhenyu, Jing, Ying, Ma, Pengfei, Shen, Ying, Wang, Mengzhao, Wu, Jie, Yan, Ying, Zhang, Shengzhe, Zhao, Xiaojing, Zhu, Liang, Zhuang, Guanglei   +16 more
core   +2 more sources

Mutational signatures of redox stress in yeast single-strand DNA and of aging in human mitochondrial DNA share a common feature.

PLoS Biology, 2019
Redox stress is a major hallmark of cancer. Analysis of thousands of sequenced cancer exomes and whole genomes revealed distinct mutational signatures that can be attributed to specific sources of DNA lesions.
Natalya P Degtyareva, Natalie Saini, Joan F Sterling, Victoria C Placentra, Leszek J Klimczak, Dmitry A Gordenin, Paul W Doetsch   +6 more
doaj   +1 more source

Transient disappearance of RAS mutant clones in plasma: A counterintuitive clinical use of EGFR inhibitors in RAS mutant metastatic colorectal cancer [PDF]

, 2019
Genomic studies performed through liquid biopsies widely elucidated the evolutionary trajectory of RAS mutant clones under the selective pressure of EGFR inhibitors in patients with wild type RAS primary colorectal tumors. Similarly, the disappearance of
Belardinilli, Francesca, Cortesi, Enrico, Gazzaniga, Paola, Gelibter, ALAIN JONATHAN, Giannini, Giuseppe, Gradilone, Angela, Loreni, Flavia, Mahdavia, Yasaman, Nicolazzo, Chiara, Raimondi, Cristina   +9 more
core   +1 more source