Results 11 to 20 of about 188,397 (314)

Unravelling mutational signatures with plasma circulating tumour DNA

Nature Communications
The use of circulating tumour DNA (ctDNA) to profile mutational signatures represents a non-invasive opportunity for understanding cancer mutational processes.
Sebastian Hollizeck, Ning Wang, Stephen Q. Wong, Cassandra Litchfield, Jerick Guinto, Sarah Ftouni, Richard Rebello, Sehrish Kanwal, Ruining Dong, Sean Grimmond, Shahneen Sandhu, Linda Mileshkin, Richard W. Tothill, Dineika Chandrananda, Sarah-Jane Dawson   +14 more
doaj   +2 more sources

MutationalPatterns: comprehensive genome-wide analysis of mutational processes

Genome Medicine, 2018
Background Base substitution catalogues represent historical records of mutational processes that have been active in a cell. Such processes can be distinguished by various characteristics, like mutation type, sequence context, transcriptional and ...
Francis Blokzijl, Roel Janssen, Ruben van Boxtel, Edwin Cuppen   +3 more
doaj   +2 more sources

From tobacco smoking to cancer mutational signature: a mediation analysis strategy to explore the role of epigenetic changes

BMC Cancer, 2020
Background Tobacco smoking is associated with a unique mutational signature in the human cancer genome. It is unclear whether tobacco smoking-altered DNA methylations and gene expressions affect smoking-related mutational signature.
Zhishan Chen, Wanqing Wen, Qiuyin Cai, Jirong Long, Ying Wang, Weiqiang Lin, Xiao-ou Shu, Wei Zheng, Xingyi Guo   +8 more
doaj   +1 more source

The repertoire of mutational signatures in human cancer [PDF]

, 2020
Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature(1). Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium(2) of the International Cancer
PCAWG Mutational Signatures Workin, López Bigas, Núria, PCAWG Consortium, Alexandrov, Ludmil B.   +3 more
core   +1 more source

Mutational profile by targeted next generation sequencing of non-small cell lung cancer in the Mexican population

Salud Pública de México, 2019
Objective. Targeted next-generation sequencing (t-NGS) has revolutionized clinical diagnosis allowing multiplexed de­tection of genomic alterations. This study evaluated the profile of somatic mutations by t-NGS in Mexican patients with non-small cell ...
Norma Hernández-Pedro, Giovanny Soca-Chafre, Carmen Alaez-Versón, Karol Carrillo-Sánchez, Alejandro Avilés-Salas, Edgar Vergara, Oscar Arrieta   +6 more
doaj   +1 more source

Mutational analysis of the lambda int gene: DNA sequence of dominant mutations [PDF]

Journal of Bacteriology, 1987
We have combined techniques of genetic and physical mapping with rapid DNA sequence analysis to identify the nucleotide change in lambda int mutations. These mutations define two dominant phenotypic classes: (i) recombination that is partially independent of accessory factors, and (ii) inhibition of wild-type Int by missense or nonsense proteins, i.e.,
S E, Bear, J B, Clemens, L W, Enquist, R J, Zagursky   +3 more
openaire   +2 more sources

Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies

Frontiers in Bioscience-Landmark, 2023
Background: There is considerable interest in the molecular evaluation of solid tumors in pediatric cases. Although clinical trials are in progress for targeted therapies against neuroblastoma (NB), novel therapeutic strategies are needed for high-risk ...
Tekincan Aktas, Deniz Kızmazoglu, Safiye Aktas, Aylin Erol, Efe Serinan, Ozde Gokbayrak, Sefayi Merve Ozdemir, Zekiye Altun, Erdener Ozer, Emre Cecen, Dilek Ince, Nur Olgun   +11 more
doaj   +1 more source

Sporadic Kindler Syndrome with a novel mutation [PDF]

Anais Brasileiros de Dermatologia, 2013
We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous ...
Hiram Larangeira de Almeida Jr, Gláucia Thomas Heckler, Kenneth Fong, Joey Lai-Cheong, John McGrath   +4 more
doaj   +1 more source

Chitosan-modified graphene electrodes for DNA mutation analysis [PDF]

Journal of Electroanalytical Chemistry, 2012
Graphene has remarkable electrochemical properties that make it an ideal material for constructing biosensors,however it has not been explored for DNA biosensing. Herein, we report on a chitosan-modified graphene platform for the electrochemical detection of changes in DNA sequences.
Subbiah, Alwarappan, Kyle, Cissell, Suraj, Dixit, Shyam, Mohapatra, Chen-Zhong, Li   +4 more
openaire   +2 more sources

Quantitative Mitochondrial DNA Mutation Analysis by Denaturing HPLC [PDF]

Clinical Chemistry, 2007
AbstractBackground: In recent years, denaturing HPLC (DHPLC) has been widely used to screen the whole mitochondrial genome or specific regions of the genome for DNA mutations. The quantification and mathematical modeling of DHPLC results is, however, underexplored.Methods: We generated site-directed mutants containing some common mutations in the ...
Kok Seong, Lim, Robert K, Naviaux, Richard H, Haas   +2 more
openaire   +2 more sources