Relevant bibliographies by topics / Mutation spectra

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Mutation spectra'

Author: Grafiati
Published: 4 June 2021
Last updated: 25 July 2025

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Journal articles on the topic "Mutation spectra"

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Dunson, David B., and Kenneth R. Tindall. "Bayesian Analysis of Mutational Spectra." Genetics 156, no. 3 (2000): 1411–18. http://dx.doi.org/10.1093/genetics/156.3.1411.

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Abstract Studies that examine both the frequency of gene mutation and the pattern or spectrum of mutational changes can be used to identify chemical mutagens and to explore the molecular mechanisms of mutagenesis. In this article, we propose a Bayesian hierarchical modeling approach for the analysis of mutational spectra. We assume that the total number of independent mutations and the numbers of mutations falling into different response categories, defined by location within a gene and/or type of alteration, follow binomial and multinomial sampling distributions, respectively. We use prior di
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Tu, Xinyu, Fan Wang, Gianni Liti, Michael Breitenbach, Jia-Xing Yue, and Jing Li. "Spontaneous Mutation Rates and Spectra of Respiratory-Deficient Yeast." Biomolecules 13, no. 3 (2023): 501. http://dx.doi.org/10.3390/biom13030501.

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The yeast petite mutant was first discovered in the yeast Saccharomyces cerevisiae, which shows growth stress due to defects in genes encoding the respiratory chain. In a previous study, we described that deletion of the nuclear-encoded gene MRPL25 leads to mitochondrial genome (mtDNA) loss and the petite phenotype, which can be rescued by acquiring ATP3 mutations. The mrpl25Δ strain showed an elevated SNV (single nucleotide variant) rate, suggesting genome instability occurred during the crisis of mtDNA loss. However, the genome-wide mutation landscape and mutational signatures of mitochondri
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Xiao, Ming, Fubo Ma, Jun Yu, et al. "A Computer Simulation of SARS-CoV-2 Mutation Spectra for Empirical Data Characterization and Analysis." Biomolecules 13, no. 1 (2022): 63. http://dx.doi.org/10.3390/biom13010063.

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It is very important to compute the mutation spectra, and simulate the intra-host mutation processes by sequencing data, which is not only for the understanding of SARS-CoV-2 genetic mechanism, but also for epidemic prediction, vaccine, and drug design. However, the current intra-host mutation analysis algorithms are not only inaccurate, but also the simulation methods are unable to quickly and precisely predict new SARS-CoV-2 variants generated from the accumulation of mutations. Therefore, this study proposes a novel accurate strand-specific SARS-CoV-2 intra-host mutation spectra computation
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Stuart, Gregory R., Yoshimitsu Oda, Johan G. de Boer, and Barry W. Glickman. "Mutation Frequency and Specificity With Age in Liver, Bladder and Brain of lacI Transgenic Mice." Genetics 154, no. 3 (2000): 1291–300. http://dx.doi.org/10.1093/genetics/154.3.1291.

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Abstract Mutation frequency and specificity were determined as a function of age in nuclear DNA from liver, bladder, and brain of Big Blue lacI transgenic mice aged 1.5–25 months. Mutations accumulated with age in liver and accumulated more rapidly in bladder. In the brain a small initial increase in mutation frequency was observed in young animals; however, no further increase was observed in adult mice. To investigate the origin of mutations, the mutational spectra for each tissue and age were determined. DNA sequence analysis of mutant lacI transgenes revealed no significant changes in muta
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Rogozin, I. B. "Computational analysis of mutation spectra." Briefings in Bioinformatics 4, no. 3 (2003): 210–27. http://dx.doi.org/10.1093/bib/4.3.210.

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DeMarini, David M. "Mutation spectra of complex mixtures." Mutation Research/Reviews in Mutation Research 411, no. 1 (1998): 11–18. http://dx.doi.org/10.1016/s1383-5742(98)00009-x.

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Phung, Quy H., David B. Winter, Rudaina Alrefai, and Patricia J. Gearhart. "Cutting Edge: Hypermutation in Ig V Genes from Mice Deficient in the MLH1 Mismatch Repair Protein." Journal of Immunology 162, no. 6 (1999): 3121–24. http://dx.doi.org/10.4049/jimmunol.162.6.3121.

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Abstract During somatic hypermutation of Ig V genes, mismatched nucleotide substitutions become candidates for removal by the DNA mismatch repair pathway. Previous studies have shown that V genes from mice deficient for the MSH2 and PMS2 mismatch repair proteins have frequencies of mutation that are comparable with those from wild-type (wt) mice; however, the pattern of mutation is altered. Because the absence of MSH2 and PMS2 produced different mutational spectra, we examined the role of another protein involved in mismatch repair, MLH1, on the frequency and pattern of hypermutation. MLH1-def
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Rajaei, Moein, Ayush Shekhar Saxena, Lindsay M. Johnson, et al. "Mutability of mononucleotide repeats, not oxidative stress, explains the discrepancy between laboratory-accumulated mutations and the natural allele-frequency spectrum in C. elegans." Genome Research 31, no. 9 (2021): 1602–13. http://dx.doi.org/10.1101/gr.275372.121.

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Important clues about natural selection can be gleaned from discrepancies between the properties of segregating genetic variants and of mutations accumulated experimentally under minimal selection, provided the mutational process is the same in the laboratory as in nature. The base-substitution spectrum differs between C. elegans laboratory mutation accumulation (MA) experiments and the standing site-frequency spectrum, which has been argued to be in part owing to increased oxidative stress in the laboratory environment. Using genome sequence data from C. elegans MA lines carrying a mutation (
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Lippert, Malcolm J., Jennifer A. Freedman, Melissa A. Barber, and Sue Jinks-Robertson. "Identification of a Distinctive Mutation Spectrum Associated with High Levels of Transcription in Yeast." Molecular and Cellular Biology 24, no. 11 (2004): 4801–9. http://dx.doi.org/10.1128/mcb.24.11.4801-4809.2004.

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ABSTRACT High levels of transcription are associated with increased mutation rates in Saccharomyces cerevisiae, a phenomenon termed transcription-associated mutation (TAM). To obtain insight into the mechanism of TAM, we obtained LYS2 forward mutation spectra under low- versus high-transcription conditions in which LYS2 was expressed from either the low-level pLYS2 promoter or the strong pGAL1-10 promoter, respectively. Because of the large size of the LYS2 locus, forward mutations first were mapped to specific LYS2 subregions, and then those mutations that occurred within a defined 736-bp tar
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Katz, Sophia, Sarit Avrani, Meitar Yavneh, Sabrin Hilau, Jonathan Gross, and Ruth Hershberg. "Dynamics of Adaptation During Three Years of Evolution Under Long-Term Stationary Phase." Molecular Biology and Evolution 38, no. 7 (2021): 2778–90. http://dx.doi.org/10.1093/molbev/msab067.

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Abstract Many bacterial species that cannot sporulate, such as the model bacterium Escherichia coli, can nevertheless survive for years, following exhaustion of external resources, in a state termed long-term stationary phase (LTSP). Here we describe the dynamics of E. coli adaptation during the first three years spent under LTSP. We show that during this time, E. coli continuously adapts genetically through the accumulation of mutations. For nonmutator clones, the majority of mutations accumulated appear to be adaptive under LTSP, reflected in an extremely convergent pattern of mutation accum
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Dissertations / Theses on the topic "Mutation spectra"

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Zhivagui, Maria. "Genome-wide modeling of mutation spectra of human cancer-risk agents using experimental systems." Thesis, Lyon, 2017. http://www.theses.fr/2017LYSE1278/document.

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Les génomes du cancer présentent une mosaïque de types de mutations. Trente signatures mutationnelles ont été identifiées à partir d'un grand nombre de tumeurs humaines primaires. Déchiffrer l'origine de ces signatures mutationnelles pourrait aider à identifier les causes du cancer humain. Environ 40% des signatures décrites sont d'origine inconnue, soulignant la nécessité de modèles expérimentaux contrôlés pour étudier l'origine de ces signatures. Au cours de mon travail de doctorat, j'ai caractérisé et utilisé des modèles in vitro et in vivo d'exposition aux cancérogènes, caractériser les si
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Wolfreys, Alison Mandy. "Molecular mutation spectra of 6-thioguanine resistant human T-lymphocyte and UV-irradiated lymphoblastoid mutants." Thesis, University of Sussex, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.266549.

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Gay, L. J. "APC mutation spectra and microsatellite instability in colorectal cancer and their relationship with dietary and other lifestyle factors." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.599339.

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Mutation analysis of the mutation cluster region (MCR) of <i>APC</i> (codons 1276-1556) and MSI analysis was performed on 185 tumour samples from participants of the European Prospective Investigation into Cancer and Nutrition (EPIC) Norfolk Study, with the aim of relating the molecular changes to dietary and lifestyle information collected at the start of the study. For the <i>APC</i> analysis, genomic DNA was extracted from formalin-fixed archival tissue, amplified and sequenced. Repeat analysis identified mutations that were consistently found (confirmed), from those that were not (unconfir
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Dunn, James W. "Stretching the Flexible Myosin II Subfragment Using the Novel Gravitational Force Spectroscope, and the Uncoiling of S2." Thesis, University of North Texas, 2010. https://digital.library.unt.edu/ark:/67531/metadc28414/.

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Familial Hypertrophic cardiomyopathy (HCM) causes ventricle walls to thicken and often leads to sudden death especially in adults. Mutations in the subfragment 2 (S2) of &#946;-cardiac myosin are implicated in the genetic disorder. This S2 region is a coiled-coil rod region resulting from the dimeric form of myosin II. It has been proposed that an elastic quality allows normal S2 to absorb force during the powerstroke according to the sliding filament model. To test the flexibility of single molecules of S2 against levels of physiological force, the Gravitational Force Spectrometer (GFS) is be
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Keith, Nathan. "The Influence of Chemical Pollution on the Rate, Spectra, and Distribution of Genome-Wide DNA Mutation with Considerations for Health and Ecosystem Outcomes." Thesis, Indiana University, 2019. http://pqdtopen.proquest.com/#viewpdf?dispub=13808392.

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<p> Mutations are the ultimate source of genetic variation. Understanding the rate and environmental influence on mutation rate is therefore critical for understanding the origin of human disease and all evolutionary change. Environments, including chemical environments, are rapidly changing around the globe. Over the past seven decades, more than 140,000 novel chemicals have introduced into the market. However, less than 2% of these chemicals have been thoroughly characterized with toxicological assays. </p><p> Because the majority of germline mutations have a neutral or negative impact on
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Bessö, Anna. "Environmental factors and p53 mutation spectrum in lung cancer /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-675-1/.

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Cariello, Neal Foster. "Mutational spectra of MNNG and ICR-191 in human cells." Thesis, Massachusetts Institute of Technology, 1988. http://hdl.handle.net/1721.1/16499.

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Carton-Buonafine, Coralie. "Architecture génétique des troubles du spectre autistique dans les îles Féroé." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCC117/document.

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Les Troubles du Spectre Autistique (TSA) forment un groupe hétérogène de troubles neurodéveloppementaux caractérisés par des déficits de l’interaction sociale et de la communication ainsi que la présence de comportements répétitifs et d’intérêts restreints. Les TSA affectent environ un individu sur 68. Ils se manifestent généralement durant les trois premières années de vie mais, pour certains cas, les symptômes sont reconnus plus tard, quand les exigences sociales augmentent. Les études de jumeaux et la récurrence des troubles dans certaines familles démontrent l’importance des facteurs génét
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Li-Sucholeiki, Xiaocheng 1968. "A technology for detecting unselected mutational spectra in human genomic DNA." Thesis, Massachusetts Institute of Technology, 1999. http://hdl.handle.net/1721.1/84743.

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Thesis (Ph. D.)--Massachusetts Institute of Technology, Division of Bioengineering and Environmental Health, 1999.<br>Includes bibliographical references (leaves 186-205).<br>by Xiaocheng Li-Suckoleiki.<br>Ph.D.
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Burch, Christina L. "Mutational spectra and the adaptive landscape in the RNA virus ø6 /." Diss., Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 2000. http://wwwlib.umi.com/cr/ucsd/fullcit?p9981955.

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Books on the topic "Mutation spectra"

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Durot-Boucé, Elizabeth. Spectres des Lumières: Du frissonnement au frisson : mutations gothiques du XVIIIe au XXIe siècle. Publibook, 2008.

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Miller, Walter M. Canticle for Leibowitz (Bantam Spectra Book). Turtleback Books Distributed by Demco Media, 1997.

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Miller, Walter M. A Canticle for Leibowitz (Bantam Spectra Book). Spectra, 1997.

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Vester, Udo, and Stefanie Weber. Renal coloboma syndrome. Edited by Adrian Woolf. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0360.

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Renal coloboma syndrome is characterized by hypodysplasia of the kidneys and optic never anomalies. Dominant mutations in the paired box PAX2 gene have been defined as the underlying cause. Paired box proteins are important proteins involved in early organogenesis and PAX2 is highly expressed in the kidney, eye, and ear. This pattern of expression explains the spectrum of anomalies observed in RCS patients. The phenotypic variability of mutation carriers is high but ocular anomalies are detectable in almost all affected individuals. In some patients hearing impairment is observed. End-stage re
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Menon, Deepa U. Autism and Intellectual Disabilities. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0053.

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PTEN (phosphatase and tensin homologue) on chromosome 10q23.3 is a tumor suppressor gene that encodes for a dual specificity phosphatase that regulates the phosphatidylinositol 3- kinase pathway and has an important role in brain development by affecting neuronal survival, neurite outgrowth, synaptic plasticity, and learning memory. Germline mutations of the PTEN gene have been implicated in a group of related tumor syndromes with autosomal dominant inheritance and variable expression and include the Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Juvenile Polyposis s
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Powell, Craig M. SHANK Gene Family and Autism. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0011.

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SHANK3 deletion/mutation is an independently replicated, genetic cause of autism (Durand et al., 2007; Gauthier et al., 2009; Moessner et al., 2007) and is the major causative gene in the 22q13 deletion syndrome known as Phelan-McDermid syndrome (Bonaglia et al., 2011; Bonaglia et al., 2001; Bonaglia et al., 2006; Chen et al., 2011; Delahaye et al., 2009; Dhar et al., 2010; Jeffries et al., 2005; Misceo et al., 2011; Sarasua et al., 2011; Wilson et al., 2003). Patients with Phelan-McDermid syndrome uniformly have delayed or absent speech and many carry the diagnosis of autism spectrum disorder
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Smith-Hicks, C. L., and S. Naidu. Rett Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0054.

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Rett Syndrome (RTT) is a neurodevelopmental disorder that predominantly affects females but males with RTT have been identified. RTT was first described by an Austrian pediatrician, Andreas Rett. Rett syndrome was mapped to chromosome Xq28 in 1998 and a year later it was determined to be due to mutations in the MeCP2 gene at this locus. Identification of the gene led to the broadening of the clinical phenotype and further characterization into classic and atypical forms of the disease that overlap with Autism spectrum disorders during the period of regression. More than 95% of individuals with
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Paylor, Richard, Alexia M. Thomas, Surabi Veeraragavan, and Corinne M. Spencer. Putting Into Perspective the Use of the Fmr1 Knockout Mouse as a Model for Autism Spectrum Disorder. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0007.

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Chapter 7 is concerned with the presence of autism spectrum disorder (ASD) in individuals with Fragile X Syndrome (FXS). It is estimated that 21–50% of individuals with FXS meet the criteria for autism or autism with pervasive developmental delay not otherwise specified. Importantly, recent findings indicate that approximately 2–6% of individuals with ASDs have a mutation in the FMR1 gene, making it one of the most significant single genes associated with the presence of ASD.
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Lee, Ryan W. Smith-Lemli-Opitz Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0078.

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Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia. Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly. Children with SLOS often have a behavioral phenotype within the autism spectrum.
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Williams, Richard O., and Jeffrey Freed. The Spectrum of Twice Exceptional and Autistic Learners and Suggestions for Their Learning Styles. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190645472.003.0014.

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This chapter compares the exceptionalities and learning disabilities found in twice exceptional (2e) learners with those of learners on the autistic spectrum who have identifiable autistic traits but not an autistic spectrum disorder diagnosis. Many autistic learners have similar exceptionalities to 2e learners, and the chapter presents genetic and neuroscience evidence to support the claim. It argues that many of the learning disabilities for each group result from unusual and exceptional sensory processing issues. In many cases hypersensitivity of the senses causes behavioral issues for the
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Book chapters on the topic "Mutation spectra"

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Thilly, William G. "Measurement of Mutation Spectra as a Molecular Dosimeter." In Use of Biomarkers in Assessing Health and Environmental Impacts of Chemical Pollutants. Springer US, 1993. http://dx.doi.org/10.1007/978-1-4899-2052-2_5.

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Dutta, Arpita, and Sangharatna Godboley. "MSFL: A Model for Fault Localization Using Mutation-Spectra Technique." In Lecture Notes in Business Information Processing. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-67084-9_10.

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Golovleva, Irina, Linda Köhn, Marie Burstedt, Stephen Daiger, and Ola Sandgren. "Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden." In Retinal Degenerative Diseases. Springer New York, 2009. http://dx.doi.org/10.1007/978-1-4419-1399-9_29.

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Dogliotti, E., P. Hainaut, T. Hernandez, M. D’Errico, and D. M. Demarini. "Mutation Spectra Resulting from Carcinogenic Exposure: From Model Systems to Cancer-Related Genes." In Recent Results in Cancer Research. Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-46870-4_6.

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Vrieling, H., M. Z. Zdzienicka, J. W. I. M. Simons, P. H. M. Lohman, and A. A. van Zeeland. "Molecular Analysis of Mutations at the HPRT Locus: UV Mutation Spectra in Normal and UV-Sensitive V79 Chinese Hamster Cells." In DNA Repair Mechanisms and Their Biological Implications in Mammalian Cells. Springer US, 1989. http://dx.doi.org/10.1007/978-1-4684-1327-4_18.

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Leibl, Winfried, Klaus Brettel, Eliane Nabedryk, Jacques Breton, Jean-David Rochaix, and Kevin Redding. "Effect of PsaB-HIS656→LEU Mutation on Optical and Infrared Difference Spectra of P700 Photooxidation." In Photosynthesis: Mechanisms and Effects. Springer Netherlands, 1998. http://dx.doi.org/10.1007/978-94-011-3953-3_140.

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Rawson, Jonathan M. O., Christine L. Clouser, and Louis M. Mansky. "Rapid Determination of HIV-1 Mutant Frequencies and Mutation Spectra Using an mCherry/EGFP Dual-Reporter Viral Vector." In Methods in Molecular Biology. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4939-3046-3_6.

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Ramel, Claes. "Mutation Spectrum in Carcinogenicity." In Mechanisms of Environmental Mutagenesis-Carcinogenesis. Springer US, 1990. http://dx.doi.org/10.1007/978-1-4615-3808-0_1.

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Kumar, Arun, Binay Kumar Agarwal, Rajesh Kumar, Sanjay J. Jambhulkar, Varsha Rani, and Zille Ali Haider. "Induction of variability for yield components in Indian mustard (Brassica juncea L. Czern & Coss) under acidic soil regime of Jharkhand." In Mutation breeding, genetic diversity and crop adaptation to climate change. CABI, 2021. http://dx.doi.org/10.1079/9781789249095.0026.

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Abstract Indian mustard (Brassica juncea L.) is the most important oilseed crop of the state of Jharkhand in India, where 78% of the cultivable soil is acidic, causing a sizeable yield reduction. Potential seed yield from such soils cannot be realized within existing varieties and therefore a mutation breeding approach has been followed to isolate mutants tolerant to acidic soil. Three doses of gamma-rays (900 Gy, 1000 Gy and 1100 Gy) and a combined treatment of gamma irradiation and 0.3% EMS were used for induction of mutation in the varieties 'Shivani' and 'Pusa Bold'. A total of 139,720 M<s
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Messiaen, L. M., and K. Wimmer. "NF1 Mutational Spectrum." In Neurofibromatoses. KARGER, 2008. http://dx.doi.org/10.1159/000126545.

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Conference papers on the topic "Mutation spectra"

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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&gt;T and G&gt;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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Efimenko, B. E., K. Yu Popadin, and K. V. Gunbin. "NEUTRAL MUTATION SPECTRA RECONSTRUCTION — NEMU PIPELINE." In OpenBio-2023. ИПЦ НГУ, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-16.

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NeMu is an automated pipeline that reconstructs neutral mutation spectra by analyzing intra-species or inter-species polymorphisms. The pipeline can be used for studying mutation spectra and natural selection in gene sequences and other genomic elements.
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Koshel, A. A., G. G. Osadchiy, A. A. Mikhailova, et al. "DIFFERENCES IN THE MTDNA MUTATION SPECTRUM OF TERMITE AND NON-TERMITE COCKROACHES ARE ASSOCIATED WITH LIFE EXPECTANCY." In OpenBio-2023. ИПЦ НГУ, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-23.

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We analyzed the mutational spectra of the COX1 gene for 16 species of termite cockroaches and 7 species of non-termite cockroaches using phylogenetic methods and found that social termites have more frequent Ah &gt; Gh substitutions compared to less social termites and cockroaches, which may indicate the influence of life expectancy on the mutational spectrum of mtDNA.
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Iliushchenko, D. V., B. E. Efimenko, K. V. Gunbin, and K. Y. Popadin. "DEEP MUTATIONAL SPECTRUM OF MITOCHONDRIAL GENOME IN VERTEBRATES AS A NEW TYPE OF SPECIES — SPECIFIC MOLECULAR PHENOTYPE." In OpenBio-2023. ИПЦ НГУ, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-4.

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The deep mutational spectrum (MS), an informative representation of de novo mutations with contextual data, offers valuable biological insights into the primary sources ofmutations across diverse genes, cancers, and species. However, reconstructing a comprehensive mutational spectrum demands substantial data, which is often lacking for non-model species. To address this challenge, we present a novel approach integrating sparse species-specific mitochondrial DNA (mtDNA) mutational spectra based on 122,031 polymorphic reconstructed synonymous mutations within the CytB gene of 974 vertebrate spec
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Polivka, T., D. Engst, J. Dian, et al. "Persistent Spectral Hole Burning In The Antenna Protein CP47 Of Synechocystis SP. Mutant H114Q." In Spectral Hole-Burning and Related Spectroscopies: Science and Applications. Optica Publishing Group, 1994. http://dx.doi.org/10.1364/shbs.1994.wd18.

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Spectral hole-burning is powerful tool for the study of fast relaxation processes (e.g. excited energy transfer - EET, electron transport - e.t.) in photosynthetic systems. Fast e.t. was systematically studied by transient hole-burning (THB) in absorption spectra of reaction centra in purple bacteria and green plants [1]. The THB in fluorescence of PSII particles was described in [2]. Persistent spectral hole-burning (PSHB) enabled to determine the hole-burning mechanism, the EET rate constants, electron-phonon coupling and frequency of protein phonons. The PSHB in fluorescence has been measur
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Jones, David, Adam P. Butler, Jon W. Teague, et al. "Abstract 5143: From sequencing data to mutation spectra: a high throughput analysis pipeline." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-5143.

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Chawanthayatham, Supawadee, Charles C. Valentine, Bogdan I. Fedeles, et al. "Abstract LB-229: Mutation spectra of aflatoxin B1invivoestablish biomarkers of exposure for human hepatocellualr carcinoma." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-lb-229.

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Putcha*, Balananda-Dhurjati Kumar, Shantel Hebert-Magee*, Trafina Jadhav, Andra R. Frost, Isam-Eldin Eltoum, and Upender Manne. "Abstract LB-287: Racial disparity in the TP53 mutation spectra in triple-negative breast cancers: Validation with TCGA data." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-lb-287.

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Rocha, Isadora Souza, Paola Nabhan Leonel dos Santos, João Guilherme Bochnia Küster, et al. "Pelizaeus-Merzbacher Disease with Novel Variant: Case Report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.672.

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Context: Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive hypomyelinating leukodystrophy caused by mutations in the proteolipid protein 1 (PLP1) gene, associated with myelin sheath development and stability. The result is a broad spectrum of clinical phenotypes. Diagnosis is confirmed by genetic testing. Clinical features include hypotonia followed by progressive spasticity, nystagmus, ataxia and cognitive impairment. Males are more affected. Females are asymptomatic or present milder symptoms. Most cases arise from duplications, point and null mutations. Null mutations are asso
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Skudnov, A. V., E. A. Badamshin, V. V. Lobanova, et al. "THE ROCKY ROAD TO AEROBIC AND ANAEROBIC PROKARYOTES MUTATIONAL SPECTRA RECONSTRUCTION AND ANALYSIS." In XI МЕЖДУНАРОДНАЯ КОНФЕРЕНЦИЯ МОЛОДЫХ УЧЕНЫХ: БИОИНФОРМАТИКОВ, БИОТЕХНОЛОГОВ, БИОФИЗИКОВ, ВИРУСОЛОГОВ, МОЛЕКУЛЯРНЫХ БИОЛОГОВ И СПЕЦИАЛИСТОВ ФУНДАМЕНТАЛЬНОЙ МЕДИЦИНЫ. IPC NSU, 2024. https://doi.org/10.25205/978-5-4437-1691-6-37.

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In our work, we present an adaptation of the NeMu Pipeline [1] for automated construction of mutational spectra of bacterial species. In this work, we construct and compare mutational spectra of aerobic and anaerobic prokaryotes. The frequencies detected may be specific to the clade under study, or they may be common to aerobes and anaerobes. We consider neutral mutational spectra, that is, only synonymous polymorphisms in the third positions of codons, the influence of selection on which is minimal. This allows us to assess the influence of stress factors, such as reactive oxygen species, on
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Reports on the topic "Mutation spectra"

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Leung, F., D. A. Cataldo, R. J. Fellows, A. E. Jarrell, and S. D. Harvey. Evaluation of the metabolic fate of munitions material (TNT & RDX) in plant systems. Initial assessment of plant DNA mutation spectra as a biomarker. Office of Scientific and Technical Information (OSTI), 1995. http://dx.doi.org/10.2172/187260.

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Morley, Alexander,A, and David,R Turner. The spectrum of mutation produced by low dose radiation. Office of Scientific and Technical Information (OSTI), 2004. http://dx.doi.org/10.2172/834002.

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Tangkijvanith, Pisit. Prevalence and Clinical Significance of Hepatitis B Viral Genotypes and Mutations. Faculty of Medicine, Chulalongkorn University, 2006. https://doi.org/10.58837/chula.res.2006.24.

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Hepatitis B virus (HBV) infection is a major public health problem, with more than 400 million HBV carriers estimated worldwide. Chronic HBV infection is associated with a diverse clinical spectrum of liver damage ranging from asymptomatic carrier status, chronic hepatitis, cirrhosis, and hepatocellular carcinoma (HCC). There have been increasing lines of evidence to indicate influences of HBV genotypes and mutations on the outcome of liver disease, particularly the development of HCC. The project is aimed to study the prevalence and clinical significance of genotypes and mutations in Precore/
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Elroy-Stein, Orna, and Dmitry Belostotsky. Mechanism of Internal Initiation of Translation in Plants. United States Department of Agriculture, 2010. http://dx.doi.org/10.32747/2010.7696518.bard.

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Original objectives Elucidation of PABP's role in crTMV148 IRES function in-vitro using wheat germ extract and krebs-2 cells extract. Fully achieved. Elucidation of PABP's role in crTMV148 IRES function in-vivo in Arabidopsis. Characterization of the physical interactions of PABP and other potential ITAFs with crTMV148 IRES. Partly achieved. To conduct search for additional ITAFs using different approaches and evaluate the candidates. Partly achieved. Background of the topic The power of internal translation via the activity of internal ribosomal entry site (IRES) elements allow coordinated sy
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Antignus, Yehezkiel, Ernest Hiebert, Shlomo Cohen, and Susan Webb. Approaches for Studying the Interaction of Geminiviruses with Their Whitefly Vector Bemisia tabaci. United States Department of Agriculture, 1995. http://dx.doi.org/10.32747/1995.7604928.bard.

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The DNA of tomato yellow leaf curl virus (TYLCB) was detected in its whitefly vector, Bemisia tabaci, by dot spot hybridization as early as 1 h after acquisition access. The retention of the virus nucleic acid in the vector was at least 23 days after a 48 h acquisition access. However, the retention of TYLCV coat protein did not exceed 10 days. No replicative forms of TYLCV could be detected in B. tabaci, indicating a non-propagative relationship with the vector. Whiteflies were not able to accumulate naked virion ssDNA, virus cloned dsDNA, or virions with impaired coat protein. Deletion, fram
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