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Letteratura scientifica selezionata sul tema "Mutation"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 25 luglio 2025

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Articoli di riviste sul tema "Mutation"

1

Hyodo, Toshiki, Nobuyuki Kuribayashi, Chonji Fukumoto, et al. "Abstract 4649: Proposal of the concept of “p53 mutational spectrum”: Its clinical implication in oral squamous cell carcinoma." Cancer Research 85, no. 8_Supplement_1 (2025): 4649. https://doi.org/10.1158/1538-7445.am2025-4649.

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Abstract The p53 gene is the most frequently mutated gene in malignant tumors. We found that p53 abnormalities were observed in most cases of oral squamous cell carcinoma (OSCC). Therefore, it is necessary to search for type of the functional abnormality (complete loss of function, partial loss of function, or gain of oncogenic function) of the p53 gene rather than the presence or absence of gene mutation. Here we would like to propose the concept “p53 mutational spectrum”. In this study we performed whole-exome sequencing of p53 using clinical specimens from OSCC and attempted to clarify the

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2

GARCÍA-DORADO, A., C. LÓPEZ-FANJUL, and A. CABALLERO. "Properties of spontaneous mutations affecting quantitative traits." Genetical Research 74, no. 3 (1999): 341–50. http://dx.doi.org/10.1017/s0016672399004206.

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Recent mutation accumulation results from invertebrate species suggest that mild deleterious mutation is far less frequent than previously thought, implying smaller expressed mutational loads. Although the rate (λ) and effect (s) of very slight deleterious mutation remain unknown, most mutational fitness decline would come from moderately deleterious mutation (s ≈ 0·2, λ ≈ 0·03), and this situation would not qualitatively change in harsh environments. Estimates of the average coefficient of dominance (h¯) of non-severe deleterious mutations are controversial. The typical value of h¯ = 0·4 can

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3

Matsutani, Taro, Yuki Ueno, Tsukasa Fukunaga, and Michiaki Hamada. "Discovering novel mutation signatures by latent Dirichlet allocation with variational Bayes inference." Bioinformatics 35, no. 22 (2019): 4543–52. http://dx.doi.org/10.1093/bioinformatics/btz266.

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Abstract Motivation A cancer genome includes many mutations derived from various mutagens and mutational processes, leading to specific mutation patterns. It is known that each mutational process leads to characteristic mutations, and when a mutational process has preferences for mutations, this situation is called a ‘mutation signature.’ Identification of mutation signatures is an important task for elucidation of carcinogenic mechanisms. In previous studies, analyses with statistical approaches (e.g. non-negative matrix factorization and latent Dirichlet allocation) revealed a number of muta

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4

Lee, Joon-Hyop, Jiyoung Ahn, Won Seo Park, et al. "Colorectal Cancer Prognosis is Not Associated with BRAF and KRAS Mutations-A STROBE Compliant Study." Journal of Clinical Medicine 8, no. 1 (2019): 111. http://dx.doi.org/10.3390/jcm8010111.

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Background: We investigated the associations between v-Raf murine sarcoma viral oncogene homolog B1 (BRAFV600E, henceforth BRAF) and v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations and colorectal cancer (CRC) prognosis, using The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GSE39582) datasets. Materials and Methods: The effects of BRAF and KRAS mutations on overall survival (OS) and disease-free survival (DFS) of CRC were evaluated. Results: The mutational status of BRAF and KRAS genes was not associated with overall survival (OS) or DFS of the CRC patients

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5

Bustamante, A. V., A. M. Sanso, D. O. Segura, A. E. Parma, and P. M. A. Lucchesi. "Dynamic of Mutational Events in Variable Number Tandem Repeats ofEscherichia coliO157:H7." BioMed Research International 2013 (2013): 1–9. http://dx.doi.org/10.1155/2013/390354.

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VNTRs regions have been successfully used for bacterial subtyping; however, the hypervariability in VNTR loci is problematic when trying to predict the relationships among isolates. Since few studies have examined the mutation rate of these markers, our aim was to estimate mutation rates of VNTRs specific for verotoxigenicE. coliO157:H7. The knowledge of VNTR mutational rates and the factors affecting them would make MLVA more effective for epidemiological or microbial forensic investigations. For this purpose, we analyzed nine loci performing parallel, serial passage experiments (PSPEs) on 9

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6

Ellis, Nathan A. "Mutation-causing mutations." Nature 381, no. 6578 (1996): 110–11. http://dx.doi.org/10.1038/381110a0.

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7

Pawlik, Timothy M., Darrell R. Borger, Yuhree Kim, et al. "Genomic profiling of intrahepatic cholangiocarcinoma: Refining prognostic determinants and identifying therapeutic targets." Journal of Clinical Oncology 32, no. 3_suppl (2014): 210. http://dx.doi.org/10.1200/jco.2014.32.3_suppl.210.

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210 Background: The molecular alterations that drive tumorigenesis in intrahepatic cholangiocarcinoma (ICC) remain poorly defined. We sought to define the incidence and prognostic significance of mutations associated with ICC among patients undergoing surgical resection. Methods: 138 patients who underwent resection at 6 centers in the United States and Europe were included in the cohort. Mutational profiling was performed using nucleic acids that were extracted from resected ICC tumor specimens; mutations were identified using a multiplexed mutational profiling platform. The frequency of muta

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8

Robinson, Philip S., Tim H. H. Coorens, Claire Palles, et al. "Increased somatic mutation burdens in normal human cells due to defective DNA polymerases." Nature Genetics 53, no. 10 (2021): 1434–42. http://dx.doi.org/10.1038/s41588-021-00930-y.

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AbstractMutation accumulation in somatic cells contributes to cancer development and is proposed as a cause of aging. DNA polymerases Pol ε and Pol δ replicate DNA during cell division. However, in some cancers, defective proofreading due to acquired POLE/POLD1 exonuclease domain mutations causes markedly elevated somatic mutation burdens with distinctive mutational signatures. Germline POLE/POLD1 mutations cause familial cancer predisposition. Here, we sequenced normal tissue and tumor DNA from individuals with germline POLE/POLD1 mutations. Increased mutation burdens with characteristic muta

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Trindade, Sandra, Lilia Perfeito, and Isabel Gordo. "Rate and effects of spontaneous mutations that affect fitness in mutator Escherichia coli." Philosophical Transactions of the Royal Society B: Biological Sciences 365, no. 1544 (2010): 1177–86. http://dx.doi.org/10.1098/rstb.2009.0287.

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Knowledge of the mutational parameters that affect the evolution of organisms is of key importance in understanding the evolution of several characteristics of many natural populations, including recombination and mutation rates. In this study, we estimated the rate and mean effect of spontaneous mutations that affect fitness in a mutator strain of Escherichia coli and review some of the estimation methods associated with mutation accumulation (MA) experiments. We performed an MA experiment where we followed the evolution of 50 independent mutator lines that were subjected to repeated bottlene

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Mohammadi, Mahmoud, Evelyne Roets, Roos F. Bleckman, et al. "Impact of Mutation Profile on Outcomes of Neoadjuvant Therapy in GIST." Cancers 17, no. 4 (2025): 634. https://doi.org/10.3390/cancers17040634.

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Background: Neoadjuvant imatinib therapy plays a crucial role in the management of gastrointestinal stromal tumors (GISTs), but its impact across various mutational profiles remains uncertain. Objective: The aim of this study is to describe the clinicopathological features and to assess the response and surgical outcomes of neoadjuvant imatinib in GIST patients exhibiting diverse mutational profiles. Methods: We conducted a retrospective study, extracting data from the Dutch GIST Registry, including patients treated with neoadjuvant imatinib. Response rate was the primary outcome, and secondar

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Tesi sul tema "Mutation"

1

Komp, Lindgren Patricia. "Mutations and Mutation Rate in the Development of Fluoroquinolone Resistance." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-8275.

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Ibrahim, Daniel Murad. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://dx.doi.org/10.18452/17102.

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Mutationen von Transkriptionsfaktoren (TF) betreffen nicht nur die Funktion des TFs, sondern auch die Expression seiner Zielgene und liegen häufig angeborenen Entwicklungsdefekten zugrunde. Über 20 Mutationen in HOXD13, einem TF der die Entwicklung der Extremitäten kontrolliert, sind bisher als Ursache verschiedenartiger Extremitätenfehlbildungen entdeckt worden. Eine molekularbiologische Grundlage für die Vielgestaltigkeit der HOXD13-Mutationen ist jedoch unbekannt. Die bisherigen Methoden zur funktionellen Charakterisierung von TF-Mutationen ermöglichten eine lediglich eingeschränkte Inte

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Hagman, Hans. "Mutation Testing : A comparison of mutation selection methods." Thesis, Högskolan i Skövde, Institutionen för kommunikation och information, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-6569.

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Software is all around us in our lives in the industrialized world, and we as a society and individuals need it to function correctly. Software testing fills the role of performing behavior audits, to guide the correction of the software to its intended behavior. The consequences of faulty software can range to the late arrival of trains, to nuclear meltdowns. This places quality requirements on the software of various levels. Program based mutation testing provides a high level of faultfinding capability. It does this by injecting many synthetic faults into the code under test, as described b

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4

Krasovec, Marc. "Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066371/document.

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Les mutations sont la principale source de diversité sur laquelle agit la sélection pour permettre aux espèces de s'adapter. Les études de l'effet des mutations sur la survie et du taux de mutation sont donc essentielles pour mieux comprendre l'évolution. Par une approche d'expérience d'accumulation de mutations, nous étudions ces deux questions chez cinq modèles d'algues vertes (Ostreococcus tauri, O. mediterraneus, Bathycoccus prasinos, Micromonas pusilla, et Picochlorum RCC4223). Il est mis en évidence une diminution de la fitness au cours du temps en raison des mutations délétères, et une

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Krasovec, Marc. "Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote." Electronic Thesis or Diss., Paris 6, 2016. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2016PA066371.pdf.

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Abstract (sommario):

Les mutations sont la principale source de diversité sur laquelle agit la sélection pour permettre aux espèces de s'adapter. Les études de l'effet des mutations sur la survie et du taux de mutation sont donc essentielles pour mieux comprendre l'évolution. Par une approche d'expérience d'accumulation de mutations, nous étudions ces deux questions chez cinq modèles d'algues vertes (Ostreococcus tauri, O. mediterraneus, Bathycoccus prasinos, Micromonas pusilla, et Picochlorum RCC4223). Il est mis en évidence une diminution de la fitness au cours du temps en raison des mutations délétères, et une

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6

Lee, Angela Waishan. "Hair-loss mutation (dep) caused by a mutation in palmitoyl transferase Zdhhc21." Thesis, University of Edinburgh, 2008. http://hdl.handle.net/1842/29217.

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The recessive hair loss mutant, dep, contains a mutation (del-233F) at the C-terminal of Zdhhc21. Wild-type Zdhhc21 has been shown to enhance palmitoylation of several specific substrates in a transfected cell assay. Zdhhc21 localises to the cis-Golgi, whereas the mutant protein is mislocalised and is inactive in palmitoylation. We verified the candidacy of Zdhhc21 by transgenic BAC rescue. Dep is characterised by progressive hair loss, hyperplasia of the sebaceous glands, the interfollicular epidermis and the outer root sheath. In-situ hybridisation and immunohistochemistry show that both wil

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Drechsel, Dieter. "Evolution and Mutation Physics." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2011. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-69962.

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Base rivalry arises at replication of monotonous DNA – sequences. Irreparable mutations can arise by tunnel processes if the developed energy is high enough. The tunnel probability depends not only on the base rivalry energy but also depends on the temperature of surroundings. The tunnel probability diminishes with decreasing temperature. The cytoplasm viscosity increases in the long term with decreasing temperature. The length of the monotonous sequence in which happens an irreparable mutation (caused by base rivalry) then will be larger than at higher temperatures. This means that the possib

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8

Duncan, Ishbel M. M. "Strong mutation testing strategies." Thesis, Durham University, 1993. http://etheses.dur.ac.uk/5771/.

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Mutation Testing (or Mutation Analysis) is a source code testing technique which analyses code by altering code components. The output from the altered code is compared with output from the original code. If they are identical then Mutation Testing has been successful in discerning a weakness in either the test code or the test data. A mutation test therefore helps the tester to develop a program devoid of simple faults with a well developed test data set. The confidence in both program and data set is then increased. Mutation Analysis is resource intensive. It requires program copies, with on

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Williamson, David. "Haemoglobin mutation and instability." Thesis, Open University, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.315297.

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Jia, Y. "Higher order mutation testing." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1401264/.

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Mutation testing is a fault-based software testing technique that has been studied widely for over three decades. To date, work in this field has focused largely on first order mutants because it is believed that higher order mutation testing is too computationally expensive to be practical. This thesis argues that some higher order mutants are potentially better able to simulate real world faults and to reveal insights into programming bugs than the restricted class of first order mutants. This thesis proposes a higher order mutation testing paradigm which combines valuable higher order mutan

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Libri sul tema "Mutation"

1

Robin, Cook. Mutation. Putnam's, 1989.

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2

Applegate, Katherine. Mutation. Scholastic, 2002.

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Robin, Cook. Mutation. Berkley Books, 1990.

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Robin, Cook. Mutation. Putnam, 1989.

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Robin, Cook. Mutation. Guild Publishing, 1989.

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Robin, Cook. Mutation. Pan Books, 1989.

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1962-, Cordy Michael, ed. Mutation: Roman. Diana-Verl., 2000.

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8

Logie, Colin. Point mutation. InTech, 2012.

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Applegate, Katherine. The mutation. Gareth Stevens Pub., 2000.

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Applegate, Katherine. The mutation. Hippo, 2001.

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Capitoli di libri sul tema "Mutation"

1

Konzak, C. F. "Mutations and Mutation Breeding." In Agronomy Monographs. American Society of Agronomy, Crop Science Society of America, Soil Science Society of America, 2015. http://dx.doi.org/10.2134/agronmonogr13.2ed.c24.

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Lee, L. Slade, Bradley J. Till, Helen Hill, Owen A. Huynh, and Joanna Jankowicz-Cieslak. "Mutation and Mutation Screening." In Methods in Molecular Biology. Humana Press, 2013. http://dx.doi.org/10.1007/978-1-62703-715-0_8.

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Smith, C. A., and E. J. Wood. "Mutation." In Molecular Biology and Biotechnology. Springer US, 1991. http://dx.doi.org/10.1007/978-1-4615-3866-0_8.

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Vogel, Friedrich, and Arno G. Motulsky. "Mutation." In Human Genetics. Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-662-02489-8_6.

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Brennan, Michael. "Mutation." In Encyclopedia of Personality and Individual Differences. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-24612-3_1551.

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Doolittle, Donald P. "Mutation." In Advanced Series in Agricultural Sciences. Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71734-5_15.

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Shekhar, Shashi, and Hui Xiong. "Mutation." In Encyclopedia of GIS. Springer US, 2008. http://dx.doi.org/10.1007/978-0-387-35973-1_857.

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Smith-Keary, Peter. "Mutation." In Molecular Genetics. Macmillan Education UK, 1991. http://dx.doi.org/10.1007/978-1-349-11732-1_11.

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Lázaro, Ester. "Mutation." In Encyclopedia of Astrobiology. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-11274-4_1037.

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Forsdyke, Donald R. "Mutation." In Evolutionary Bioinformatics. Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-7771-7_7.

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Atti di convegni sul tema "Mutation"

1

Badamshin, E. A., A. V. Skudnov, K. Y. Popadin, K. V. Gunbin, and S. V. Denisov. "NUCLEOTIDE BIAS BETWEEN LEADING AND LAGGING STRAND IN BACTERIA IS CAUSED BY ASYMMETRIC MUTAGENESIS." In XI МЕЖДУНАРОДНАЯ КОНФЕРЕНЦИЯ МОЛОДЫХ УЧЕНЫХ: БИОИНФОРМАТИКОВ, БИОТЕХНОЛОГОВ, БИОФИЗИКОВ, ВИРУСОЛОГОВ, МОЛЕКУЛЯРНЫХ БИОЛОГОВ И СПЕЦИАЛИСТОВ ФУНДАМЕНТАЛЬНОЙ МЕДИЦИНЫ. IPC NSU, 2024. https://doi.org/10.25205/978-5-4437-1691-6-12.

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The Mutation Accumulation Experiment (MAE) is a commonly employed technique to obtain the most pure mutational spectrum. According to the parity rule 1 (hypothesis) frequencies of complementary mutations have to be equal. For this reason, the 6-component mutation spectrum (2 base pair types × 3 possible mutations) is commonly used in research which doesn’t differentiate between complementary mutations (e.g. C>T and G>A), some which accumulates on leading and lagging strands differently. In this work we present 12-component strand-specific mutation spectra which is able to show difference

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Souza, Beatriz, and Rohit Gheyi. "A Lightweight Technique to Identify Equivalent Mutants." In XI Congresso Brasileiro de Software: Teoria e Prática. Sociedade Brasileira de Computação - SBC, 2020. http://dx.doi.org/10.5753/cbsoft_estendido.2020.14630.

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Mutation analysis is a popular but costly approach to assess the quality of test suites. Equivalent mutants are useless and contribute to increase costs. We propose a lightweight technique to identify equivalent mutants by proving equivalences with Z3 in the context of weak mutation testing. To evaluate our approach, we apply our technique for 40 mutation targets (mutations of an expression or statement) and automatically identify 13 equivalent mutations for seven mutation targets. We manually confirm that the equivalent mutants detected by our technique are indeed equivalent. Moreover, we eva

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Cambraia, Amanda, Mario Campos Junior, Fernanda Gubert, et al. "A novel mutation in the RRM2 domain of TDP-43 in a Brazilian sporadic ALS patient." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.486.

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Introduction: Amyotrophic Lateral Sclerosis (ALS) is an adult-onset progressive and fatal neurodegenerative disease that selectively affects upper and lower motor neurons. Death occurs within 3 to 5 years of onset, usually from respiratory complications. Most cases of ALS are sporadic (SALS), but familial forms of the disease (FALS) represent approximately 10% of the cases. More than 30 genes have been associated with ALS and mutations in these genes account for more than a half of all familial cases and about 10% of sporadic cases. One of the most prevalent genes is TARDBP, responsible for ap

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Falcão, Christiane Cardoso, Tânia Souza Machado da Silva, Dara Francisca Baldo, Victor Quarentei Ciaccio, and Letícia Enedina do Nascimento Torquato. "BRCA2 mutation in a family and associated tumors: a case report." In XXVI Brazilian Mastology Congress. Mastology, 2024. https://doi.org/10.29289/259453942024v34s2013.

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Introduction: Breast cancer is one of the leading causes of mortality among women worldwide. Genetic mutations play a significant role in the development and progression of breast cancer, with BRCA1 and BRCA2 mutations being the most common hereditary risk factors. Methodology: The search for articles was conducted across several academic databases, including the United States National Library of Medicine (PubMed), Cochrane Library, Scopus, Web of Science, and the Latin American and Caribbean Center on Health Sciences Information (Bireme), using the search terms "BRCA2 mutation" and "breast ca

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Offutt, Jeff, Paul Ammann, and Lisa (Ling) Liu. "Mutation Testing implements Grammar-Based Testing." In Second Workshop on Mutation Analysis (Mutation 2006 - ISSRE Workshops 2006). IEEE, 2006. http://dx.doi.org/10.1109/mutation.2006.11.

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Sen, Sagar, and Benoit Baudry. "Mutation-based Model Synthesis in Model Driven Engineering." In Second Workshop on Mutation Analysis (Mutation 2006 - ISSRE Workshops 2006). IEEE, 2006. http://dx.doi.org/10.1109/mutation.2006.12.

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Gallardo, Guillermo, John May, and Julio C. Gallardo. "Assessment of Data Diversity Methods for Software Fault Tolerance Based on Mutation Analysis." In Second Workshop on Mutation Analysis (Mutation 2006 - ISSRE Workshops 2006). IEEE, 2006. http://dx.doi.org/10.1109/mutation.2006.1.

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Bradbury, Jeremy S., James R. Cordy, and Juergen Dingel. "Mutation Operators for Concurrent Java (J2SE 5.0)." In Second Workshop on Mutation Analysis (Mutation 2006 - ISSRE Workshops 2006). IEEE, 2006. http://dx.doi.org/10.1109/mutation.2006.10.

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Tuya, Javier, Ma Jose Suarez-Cabal, and Claudio de la Riva. "SQLMutation: A tool to generate mutants of SQL database queries." In Second Workshop on Mutation Analysis (Mutation 2006 - ISSRE Workshops 2006). IEEE, 2006. http://dx.doi.org/10.1109/mutation.2006.13.

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Crouzet, Yves, Helene Waeselynck, Benjamin Lussier, and David Powell. "The SESAME Experience: from Assembly Languages to Declarative Models." In Second Workshop on Mutation Analysis (Mutation 2006 - ISSRE Workshops 2006). IEEE, 2006. http://dx.doi.org/10.1109/mutation.2006.14.

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Rapporti di organizzazioni sul tema "Mutation"

1

โขวิฑูรกิจ, วีรพันธุ์, วาณี เปล่งพาณิชย์, ปาล์ม ชาติยิ่งเจริญ та LeGoff, Wilfried. โครงการวิจัยการศึกษารหัสพันธุกรรมในคนไทยที่มีไขมันในเลือดชนิดเอชดีแอลสูงมาก โดยวิธีถอดรหัสและวิเคราะห์การเปลี่ยนแปลงหน้าที่. จุฬาลงกรณ์มหาวิทยาลัย, 2011. https://doi.org/10.58837/chula.res.2011.33.

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วัตถุประสงค์: ปัจจัยทางพันธุกรรมที่เกี่ยวข้องกับภาวะเอชดีแอลในเลือดสูงยังไม่เป็นที่เข้าใจแน่ชัด คณะผู้วิจัยทำการถอดรหัสพันธุกรรมยีน 3 ยีน คือ CETP, LIPC และ LIPG ซึ่งสร้างโปรตีน คอเลสเตอริล เอสเทอร์ ทรานสเฟอร์ โปรตีน, เฮบพาติค ไลเปส และ เอนทีเลียล ไลเปส ตามลำดับ ในคนไทยที่มีระดับเอชดีแอลในเลือดสูงมากเทียบกับประชากรกลุ่มควบคุมวิธีดำเนินการวิจัย คณะผู้วิจัยทำการถอดรหัสยีน CETP, LIPC และ LIPG ในส่วนของ exon และ exon-intron junctions เพื่อค้นหาการเปลี่ยนแปลงพันธุกรรมในคนไทย 64 คนที่มีระดับเอชดีแอล ≥ 2.59 มิลลิโมล/ลิตร (100 มิลลิกรัม/เดซิเมตร) และเปรียบเทียบกับผลในประชากรกลุ่มควบคุม 113 คนผลการวิจั

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