Results 1 to 10 of about 1,869,547 (211)

A molnupiravir-associated mutational signature in global SARS-CoV-2 genomes. [PDF]

Nature, 2023
Molnupiravir, an antiviral medication widely used against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), acts by inducing mutations in the virus genome during replication. Most random mutations are likely to be deleterious to the virus and
Sanderson T, Hisner R, Donovan-Banfield I, Hartman H, Løchen A, Peacock TP, Ruis C.   +6 more
europepmc   +4 more sources

Pan-cancer mutational signature surveys correlated mutational signature with geospatial environmental exposures and viral infections [PDF]

Computational and Structural Biotechnology Journal, 2023
Background: Cancer has been disproportionally affecting minorities. Genomic-based cancer disparity analyses have been less common than conventional epidemiological studies. In the past decade, mutational signatures have been established as characteristic
Judy Bai, Katherine Ma, Shangyang Xia, Richard Geng, Claire Shen, Limin Jiang, Xi Gong, Hui Yu, Shuguang Leng, Yan Guo   +9 more
doaj   +2 more sources

Mutational signature analysis in non-small cell lung cancer patients with a high tumor mutational burden

Respiratory Research, 2021
Background Lung cancer is the leading cause of cancer death worldwide. With the growing number of targeted therapies and the introduction of immuno-oncology (IO), personalized medicine has become standard of care in patients with metastatic disease.
Guus R. M. van den Heuvel, Leonie I. Kroeze, Marjolijn J. L. Ligtenberg, Katrien Grünberg, Erik A. M. Jansen, Daniel von Rhein, Richarda M. de Voer, Michel M. van den Heuvel   +7 more
doaj   +2 more sources

mSigHdp: hierarchical Dirichlet process mixture modeling for mutational signature discovery. [PDF]

NAR Genom Bioinform, 2023
Mutational signatures are characteristic patterns of mutations caused by endogenous or exogenous mutational processes. These signatures can be discovered by analyzing mutations in large sets of samples – usually somatic mutations in tumor samples.
Liu M, Wu Y, Jiang N, Boot A, Rozen SG.
europepmc   +2 more sources

Analyses of mutational patterns induced by formaldehyde and acetaldehyde reveal similarity to a common mutational signature. [PDF]

G3 (Bethesda), 2022
Formaldehyde (CH2O) and acetaldehyde (C2H4O) are reactive small molecules produced endogenously in cells as well as being environmental contaminants. Both of these small aldehydes are classified as human carcinogens, since they are known to damage DNA ...
Thapa MJ, Fabros RM, Alasmar S, Chan K.
europepmc   +2 more sources

Hepatocellular Carcinoma in Mongolia Delineates Unique Molecular Traits and a Mutational Signature Associated with Environmental Agents. [PDF]

Clin Cancer Res, 2022
PURPOSE Mongolia has the world's highest incidence of hepatocellular carcinoma (HCC), with ~100 cases/105 inhabitants, although the reasons for this feature have not been thoroughly delineated.
Torrens L, Puigvehí M, Torres-Martín M, Wang H, Maeda M, Haber PK, Leonel T, García-López M, Esteban-Fabró R, Leow WQ, Montironi C, Torrecilla S, Varadarajan AR, Taik P, Campreciós G, Enkhbold C, Taivanbaatar E, Yerbolat A, Villanueva A, Pérez-Del-Pulgar S, Thung S, Chinburen J, Letouzé E, Zucman-Rossi J, Uzilov A, Neely J, Forns X, Roayaie S, Sia D, Llovet JM.   +29 more
europepmc   +2 more sources

A practical guide for mutational signature analysis in hematological malignancies

Nature Communications, 2019
Mutational signature analysis provides important information about the mutational processes underpinning different stages of tumorigenesis. Here, the authors compare publicly available signature extraction tools and suggest a framework for the generation
Francesco Maura, Andrea Degasperi, Ferran Nadeu, Daniel Leongamornlert, Helen Davies, Luiza Moore, Romina Royo, Bachisio Ziccheddu, Xose S. Puente, Herve Avet-Loiseau, Peter J. Campbell, Serena Nik-Zainal, Elias Campo, Nikhil Munshi, Niccolò Bolli   +14 more
doaj   +2 more sources

Regional mutational signature activities in cancer genomes. [PDF]

PLoS Computational Biology, 2022
Cancer genomes harbor a catalog of somatic mutations. The type and genomic context of these mutations depend on their causes and allow their attribution to particular mutational signatures.
Caitlin Timmons, Quaid Morris, Caitlin F Harrigan   +2 more
doaj   +2 more sources

Mutational signature dynamics indicate SARS-CoV-2's evolutionary capacity is driven by host antiviral molecules. [PDF]

PLoS Comput Biol
The COVID-19 pandemic has been characterised by sequential variant-specific waves shaped by viral, individual human and population factors. SARS-CoV-2 variants are defined by their unique combinations of mutations and there has been a clear adaptation to
Lamb KD, Luka MM, Saathoff M, Orton RJ, Phan MVT, Cotten M, Yuan K, Robertson DL.   +7 more
europepmc   +2 more sources

A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand. [PDF]

Nucleic Acids Res, 2022
The mutational spectrum of the mitochondrial DNA (mtDNA) does not resemble any of the known mutational signatures of the nuclear genome and variation in mtDNA mutational spectra between different organisms is still incomprehensible.
Mikhailova AG, Mikhailova AA, Ushakova K, Tretiakov EO, Iliushchenko D, Shamansky V, Lobanova V, Kozenkov I, Efimenko B, Yurchenko AA, Kozenkova E, Zdobnov EM, Makeev V, Yurov V, Tanaka M, Gostimskaya I, Fleischmann Z, Annis S, Franco M, Wasko K, Denisov S, Kunz WS, Knorre D, Mazunin I, Nikolaev S, Fellay J, Reymond A, Khrapko K, Gunbin K, Popadin K.   +29 more
europepmc   +2 more sources