Relevant bibliographies by topics / Les Mutations

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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 'Les Mutations'

Author: Grafiati
Published: 14 December 2024
Last updated: 19 July 2025

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Journal articles on the topic "Les Mutations"

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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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Tarlock, Katherine, Todd M. Cooper, Todd A. Alonzo, et al. "Mutational Concordance from Diagnosis and Relapse in Pediatric Acute Myeloid Leukemia: A Report from the Children's Oncology Group." Blood 128, no. 22 (2016): 2846. http://dx.doi.org/10.1182/blood.v128.22.2846.2846.

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Abstract The range of genomic drivers of leukemogenesis and clonal nature of the disease illustrate the heterogeneity of the mutational spectrum in AML. Genomic interrogation of the evolution of AML has begun to highlight the scope of somatic changes that occur between diagnosis and relapse. A total of 1,214 patients were treated on the Children's Oncology Group trials AAML03P1 and AAML0531, of which 398 had relapse after initial remission. Of this cohort, 201 patients had matching diagnostic and relapse specimens for molecular profiling for the most common somatic mutations in pediatric AML (
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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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Watters, M. K., and D. R. Stadler. "Spontaneous mutation during the sexual cycle of Neurospora crassa." Genetics 139, no. 1 (1995): 137–45. http://dx.doi.org/10.1093/genetics/139.1.137.

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Abstract The DNA sequences of 42 spontaneous mutations of the mtr gene in Neurospora crassa have been determined. The mutants were selected among sexual spores to represent mutations arising in the sexual cycle. Three sexual-cycle-specific mutational classes are described: hotspot mutants, spontaneous repeat-induced point mutation (RIPs) and mutations occurring during a mutagenic phase of the sexual cycle. Together, these three sexual-cycle-specific mutational classes account for 50% of the mutations in the sexual-cycle mutational spectrum. One third of all mutations occurred at one of two mut
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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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Kang, S., S. S. Seo, H. J. Chang, C. W. Yoo, S. Y. Park, and S. M. Dong. "Mutual exclusiveness between PIK3CA and KRAS mutations in endometrial carcinoma." International Journal of Gynecologic Cancer 18, no. 6 (2008): 1339–43. http://dx.doi.org/10.1111/j.1525-1438.2007.01172.x.

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In endometrial carcinomas (ECs), previous report suggested that PIK3CA mutations do not coexist with KRAS mutations, but the significant mutual exclusiveness has not been demonstrated. In this study, we examined the mutation frequency of PIK3CA in EC and its mutual exclusiveness with KRAS mutation. We performed mutational analysis of PIK3CA through a polymerase chain reaction single-strand conformation polymorphism assay in 44 cases of endometrial cancer and analyzed the correlation with loss of PTEN, KRAS mutation, and RASSF1A hypermethylation. Somatic mutations of PIK3CA were detected in 14
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Chao, Mwe, Kathrin Thomay, Gudrun Goehring, et al. "Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms." Klinische Pädiatrie 229, no. 06 (2017): 329–34. http://dx.doi.org/10.1055/s-0043-117046.

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AbstractIndividuals with Fanconi anemia (FA) have a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), yet the secondary somatic mutations lending to these malignancies remain to be further elucidated. We employed a next-generation sequencing myeloid neoplasia gene panel to determine the mutational spectrum of FA-related MDS/AML. Ten of 16 patients showed missense, nonsense, insertion or duplication mutations in 13 genes. In contrast to findings in MDS in the general population, mutations in genes involved in RNA splicing were rarely affected. Mutations in
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Ellis, Nathan A. "Mutation-causing mutations." Nature 381, no. 6578 (1996): 110–11. http://dx.doi.org/10.1038/381110a0.

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Pálinkás, Hajnalka Laura, Lőrinc Pongor, Máté Balajti, et al. "Primary Founder Mutations in the PRKDC Gene Increase Tumor Mutation Load in Colorectal Cancer." International Journal of Molecular Sciences 23, no. 2 (2022): 633. http://dx.doi.org/10.3390/ijms23020633.

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The clonal composition of a malignant tumor strongly depends on cellular dynamics influenced by the asynchronized loss of DNA repair mechanisms. Here, our aim was to identify founder mutations leading to subsequent boosts in mutation load. The overall mutation burden in 591 colorectal cancer tumors was analyzed, including the mutation status of DNA-repair genes. The number of mutations was first determined across all patients and the proportion of genes having mutation in each percentile was ranked. Early mutations in DNA repair genes preceding a mutational expansion were designated as founder
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Ahn, TaeJin, and Taesung Park. "Pathway-Driven Discovery of Rare Mutational Impact on Cancer." BioMed Research International 2014 (2014): 1–10. http://dx.doi.org/10.1155/2014/171892.

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Identifying driver mutation is important in understanding disease mechanism and future application of custom tailored therapeutic decision. Functional analysis of mutational impact usually focuses on the gene expression level of the mutated gene itself. However, complex regulatory network may cause differential gene expression among functional neighbors of the mutated gene. We suggest a new approach for discovering rare mutations that have real impact in the context of pathway; the philosophy of our method is iteratively combining rare mutations until no more mutations can be added under the c
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Dissertations / Theses on the topic "Les Mutations"

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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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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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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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Maxwell, Megan Amanda, and n/a. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis." Griffith University. School of Biomolecular and Biomedical Science, 2004. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040219.100649.

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The peroxisome is a subcellular organelle that carries out a diverse range of metabolic functions, including the b-oxidation of very long chain fatty acids, the breakdown of peroxide and the a-oxidation of fatty acids. Disruption of peroxisome metabolic functions leads to severe disease in humans. These diseases can be broadly grouped into two categories: those in which a single enzyme is defective, and those known as the peroxisome biogenesis disorders (PBDs), which result from a generalised failure to import peroxisomal matrix proteins (and consequently result in disruption of multiple metab
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Maxwell, Megan Amanda. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis." Thesis, Griffith University, 2004. http://hdl.handle.net/10072/366184.

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The peroxisome is a subcellular organelle that carries out a diverse range of metabolic functions, including the b-oxidation of very long chain fatty acids, the breakdown of peroxide and the a-oxidation of fatty acids. Disruption of peroxisome metabolic functions leads to severe disease in humans. These diseases can be broadly grouped into two categories: those in which a single enzyme is defective, and those known as the peroxisome biogenesis disorders (PBDs), which result from a generalised failure to import peroxisomal matrix proteins (and consequently result in disruption of multiple metab
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COCCIADIFERRO, DARIO. "Mutational analysis of Kabuki Syndrome patients and functional dissection of KMT2D mutations." Doctoral thesis, Università di Foggia, 2018. http://hdl.handle.net/11369/369451.

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The discovery of histone methyltransferase KMT2D and demethylase KDM6A genetic alterations in Kabuki Syndrome (KS) expanded and highlighted the role of histone modifiers in causing congenital anomalies and intellectual disability syndromes. KS is a rare autosomal dominant condition characterized by facial features, various organ malformations, postnatal growth deficiency, and intellectual disability. Since 2011 we performed a mutational screening of our KS cohort, that includes now 505 KS patients, by Sanger sequencing and MLPA of KMT2D, followed by KDM6A analysis in those patients resulted as
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Davis, Brad. "Compensatory and deleterious mutations." Thesis, University of British Columbia, 2009. http://hdl.handle.net/2429/7722.

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My Ph.D. research has focused on some general properties of compensatory mutations, as well as the impact of compensatory mutations on fitness recovery and deleterious mutations on populations extinction risks. I have addressed these topics using a variety of techniques. Chapter 2 addresses mutational meltdown using computer simulation models to explicitly incorporate both environmental stochasticity and mutation accumulation. The results show that a small amount of environmental stochasticity can significantly hasten extinction times and that the mutational meltdown process hastens time to e
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Bendall, Kate E. "Inheritance of mitochondrial mutations." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.320141.

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Salamat, Majid. "Coalescent, recombinaisons et mutations." Thesis, Aix-Marseille 1, 2011. http://www.theses.fr/2011AIX10059.

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Cette thèse se concentre sur certains sujets en génétique des populations. Dans la première partie, nous donnons des formules y compris l'espérance et la variance de la hauteur et celles de la longueur du graphe de recombinaison ancestral (ARG) et l'espérance et la variance du nombre de recombinaison et nous montrons que l'espérance de la longueur de l'ARG est une combinaison linéaire de l'espérance de la longueur de la coalescence de Kingman et l'espérance de la hauteur de l'ARG. En outre, nous avons obtenu une relation entre l'espérance la longueur de l'ARG et l'espérance du nombre de recomb
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Books on the topic "Les Mutations"

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Thomas, Hugh. Mutations. BookThug, 2004.

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Centre d'études et de recherche sur les civilisations et les littératures européennes (Boulogne-sur-Mer, France) and Université du Littoral Côte d'Opale. Équipe de recherche "HLLI.", eds. Mutations de société, mutations de cinéma. Shaker Verlag, 2015.

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Aubin, Denis. Mutations/fluctuations. NBJ, 1985.

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Wedge, Martin. Per-mutations. Ormeau Baths Gallery, 1997.

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Francesco, Casetti, Odin Roger, and Centre d'études transdisciplinaires, eds. Télévisions mutations. Éditions du Seuil [for] Centre d'Études Transdisciplinaires, 1990.

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Carlos, Pacheco, Townsend Timothy, Hosek Dan, Harris Bob, and Atomic Media, eds. X-Men: Mutations. Marvel Comics, 1996.

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Jay, Prosser, ed. Sublime mutations: Photographs. Konkursbuch Verlag, 2000.

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international, Institut CEDIMES Colloque, ed. Mutations contemporaines & développement. CEDIMES, 2003.

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Castella, Vincenzo, Davis Lynn 1944-, and Roberto Pugliese. Recursions and mutations. Silvana editoriale, 2019.

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Couturier, Stéphane. Stéphane Couturier: Mutations. Bibliothèque nationale de France, 2004.

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Book chapters on the topic "Les Mutations"

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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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Sebald, Madeleine. "Mutations." In Brock/Springer Series in Contemporary Bioscience. Springer New York, 1993. http://dx.doi.org/10.1007/978-1-4615-7087-5_5.

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Sharma, Dhirendra Kumar. "Mutations." In Encyclopedia of Animal Cognition and Behavior. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-319-55065-7_567.

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Sharma, Dhirendra Kumar. "Mutations." In Encyclopedia of Animal Cognition and Behavior. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-47829-6_567-1.

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Biswas, Nabendu. "Mutations." In Practical GraphQL. Apress, 2023. http://dx.doi.org/10.1007/978-1-4842-9621-9_3.

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Abe, Tomoko, Hiroyuki Ichida, Yoriko Hayashi, et al. "Ion beam mutagenesis - an innovative and effective method for plant breeding and gene discovery." In Mutation breeding, genetic diversity and crop adaptation to climate change. CABI, 2021. http://dx.doi.org/10.1079/9781789249095.0042.

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Abstract We have developed a unique technology for mutation induction of plants using energetic ion beams at the RI Beam Factory (RIBF) of Rikagaku Kenkyūjo (RIKEN) (Institute of Physical and Chemical Research). Ion beams effectively induce mutations at relatively low doses without severely inhibiting growth. The irradiation treatment can be given to various plant materials and mutation can be induced in a short time, between seconds and a few minutes. The linear energy transfer (LET) of ions depends on the nuclide and velocity. Since LET value affects the mutation frequency, it is an important parameter to determine the most effective irradiation condition in mutagenesis. We determined the most effective dose in each LET for mutation induction in imbibed rice seeds. Subsequently, we analysed the mutated DNA responsible for the phenotype in morphological mutants. Most of the mutations were small deletions of less than 100 bp. Irradiations of C-ions and Ne-ions are effective for plant breeding because of the very high mutation rate and sufficient energy to disrupt a single gene. On the other hand, all mutations induced by Ar-ion (290 keV/μm) irradiation were large deletions ranging from 176 bp to approximately 620 kb. The average number of mutations in the target exon regions was 7.3, 8.5 and 4.3 per M<sub>3</sub> mutant plant in C-ions, Ne-ions and Ar-ions, respectively. The number of mutations induced by heavy-ion irradiation was relatively small. We could identify six responsible genes for eight mutants induced by C-ion and Ne-ion irradiations and two responsible genes for four mutants induced by Ar-ion irradiation. Three of these were genes not previously described.
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van Eyk, Clare L., and Robert I. Richards. "Dynamic Mutations." In Advances in Experimental Medicine and Biology. Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-5434-2_5.

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Michaelides, K., R. Schwaab, M. R. A. Lalloz, W. Schmidt,, and E. G. D. Tuddenham. "Mutational analysis: new mutations." In PCR2. Oxford University PressOxford, 1995. http://dx.doi.org/10.1093/oso/9780199634255.003.0013.

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Abstract In the last few years the search for mutations and sequence polymorphisms has been dramatically accelerated by the use of PCR and subsequently by direct sequencing of PCR products (1, 2). In spite of these powerful new methods, direct sequencing is not always practicable in detecting mutations because they may be positioned anywhere in some of the very large genes which are being studied. For example, mutations have now been found in nearly every one of the 26 exons of the factor VIII gene. Thus a number of prescreening methods have been developed, such as discriminant oligonucleotide hybridization (3), enzymatic (4) and chemical cleavage methods (5), single stranded conformation polymorphism (SSCP) (6) and denaturing gradient gel electrophoresis (DGGE) (7). These methods are described and by way of example, some results of their application to screening the coding sequences and splice sites of the factor VIII gene for mutations amongst haemophilia A patients (8-10) are shown.
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Newton, Clive R. "Mutational analysis: known mutations." In PCR2. Oxford University PressOxford, 1995. http://dx.doi.org/10.1093/oso/9780199634255.003.0012.

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Abstract This chapter attempts to illustrate the various PCR options that are available to detect specific mutations and/or polymorphisms in genomic DNA. In so doing, the relative merits and drawbacks of each technique are addressed in the respective sections. For some methods of PCR-assisted mutation detection covered in this chapter, a protocol has not been included. In these instances the respective method is rarely used and is therefore discussed and the seminal reference cited. Protocols have, as far as possible, been described so that they can be applied in a generic fashion. However, detection of some mutations or polymorphisms may require deviations from the respective protocols as a result of adjacent genomic DNA sequence. This is more likely where detection of the specific DNA variation is dependent on oligonucleotide hybridization as opposed to primer/template annealing.
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Levine, Michael A., and Steven A. Lietman. "Molecular and Clinical Characteristics of the McCune–Albright Syndrome." In Oxford Textbook of Endocrinology and Diabetes 3e, edited by John A. H. Wass, Wiebke Arlt, and Robert K. Semple. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198870197.003.0121.

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The McCune–Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, café-au-lait pigmented skin lesions, and endocrinopathy. MAS is due to postzygotic mutation of the GNAS gene that leads to activation of Gα‎<sub>s</sub>, the alpha chain of the heterotrimeric G protein, Gs. Cells that carry the activating GNAS mutation, termed gsp, are distributed in a mosaic pattern, and the extent of the distribution of mutation-bearing cells is based on the timing of the mutational event. Thus, gsp mutations that occur late in development can cause mono-ostotic fibrous dysplasia or an isolated endocrine lesion, whereas earlier mutational events lead to widespread distribution of lesional cells and MAS. Molecular studies now enable the detection of somatic GNAS mutations in circulating cells from most patients with MAS as well as many patients who have only one affected tissue, and therefore diagnosis of MAS continues to rely upon clinical assessment.
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Conference papers on the topic "Les Mutations"

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Pekarcik, Peter, and Eva Chovancová. "Mutations of Cryptographic Algorithms." In 2024 International Conference on Emerging eLearning Technologies and Applications (ICETA). IEEE, 2024. https://doi.org/10.1109/iceta63795.2024.10850786.

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SEPE, MARICHELA. "MEASURING UNCERTAINTY: FACING PLACE MUTATIONS SUSTAINABLY." In SDP 2024. WIT Press, 2024. http://dx.doi.org/10.2495/sdp240131.

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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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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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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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Zheleznova, A. S., M. Yu Kartashov, and S. A. Svirin. "THE PREVALENCE OF MUTANT FORMS OF HEPATITIS B VIRUS CIRCULATING IN SIBERIA." In XI МЕЖДУНАРОДНАЯ КОНФЕРЕНЦИЯ МОЛОДЫХ УЧЕНЫХ: БИОИНФОРМАТИКОВ, БИОТЕХНОЛОГОВ, БИОФИЗИКОВ, ВИРУСОЛОГОВ, МОЛЕКУЛЯРНЫХ БИОЛОГОВ И СПЕЦИАЛИСТОВ ФУНДАМЕНТАЛЬНОЙ МЕДИЦИНЫ. IPC NSU, 2024. https://doi.org/10.25205/978-5-4437-1691-6-184.

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55 full-genome HBV sequences were obtained, which were genotyped and analyzed for the presence of drug resistance and vaccine escape mutations. The following distribution of subgenotypes was revealed in the studied sample: D2 — 33.0 %, D3 — 31.0 %, D1 — 29.0 %, A2 — 7.0 %. Mutations of drug resistance were not found among the identified isolates. A vaccine-elusive mutation Y134H was found in a single isolate.
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Mukhopadhyay, Asima, Nicola Curtin, and Richard Edmondson. "Evaluation of different methods to assess homologous recombination status and sensitivity to PARP inhibitors in ovarian cancer." In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685289.

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Methods: Matched samples of ascites and tumor tissue were taken from patients undergoing surgery for epithelial ovarian cancer. Tumor samples were formalin fixed and paraffin embedded (FFPE); ascites samples were used to generate primary cultures (PC). HR status was determined in PCs as previously described.[1] IC50 for the PARP inhibitor Rucaparib was estimated using SRB assays. DNA was extracted from the FFPE tissue. The following techniques were evaluated in PCs or paired FFPE samples: DR-GFP reporter assay, PARP activity assay, BRCA1 expression on immunohistochemistry, BRCA1 methylation st
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Svirin, K. A., O. G. Polovkova, E. S. Fedorova, M. N. Kamalov, A. S. Zheleznova, and M. Yu Kartashov. "ANALYSIS OF RESISTANCE MUTATIONS IN HEPATITIS C VIRUS ISOLATES SUBGENOTYPES 1B AND 3A IN TUBERCULOSIS-INFECTED INDIVIDUALS IN THE TOMSK REGION." In XI МЕЖДУНАРОДНАЯ КОНФЕРЕНЦИЯ МОЛОДЫХ УЧЕНЫХ: БИОИНФОРМАТИКОВ, БИОТЕХНОЛОГОВ, БИОФИЗИКОВ, ВИРУСОЛОГОВ, МОЛЕКУЛЯРНЫХ БИОЛОГОВ И СПЕЦИАЛИСТОВ ФУНДАМЕНТАЛЬНОЙ МЕДИЦИНЫ. IPC NSU, 2024. https://doi.org/10.25205/978-5-4437-1691-6-200.

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Hepatitis C virus (HCV) has high mutational variability, which leads to the emergence of mutational forms that are resistant to direct-acting antivirals. Among 25 isolates of HCV subtype 3a found in tuberculosis patients in the Tomsk region, mutations Y93H and S/T62L were found in the NS5A gene, and A166S/T substitutions were detected in the NS3 gene. In nine isolates of subtype 1b, mutations L31M and P58S were detected in the NS5A gene; substitutions L159F, C316, and S556G were detected in the NS5B gene.
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Bittencourt, Yuri Cardoso Rodrigues Beckedorff, Lucas Soares Almada, Tatiana Strava Corrêa, et al. "SOMATIC MUTATIONAL LANDSCAPE CHARACTERIZATION OF METASTATIC BREAST CANCER IN BRAZIL." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2025.

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Objective: Breast cancer (BC) is the most common malignancy among Brazilian women after non-melanoma skin cancer. The mutational landscape of BC in Brazil is unknown. This study describes the mutational profile of a cohort of patients with metastatic breast cancer (MBC) who had undergone next-generation sequencing (NGS) using a comprehensive somatic tumor panel. Methods: We retrospectively reviewed medical records from MBC patients. The mutational profile, clinical, and demographic characteristics were abstracted. Furthermore, the patterns of ordering the panel and its usefulness for a clinica
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Reports on the topic "Les Mutations"

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Yang, Mengge, and Lin Liao. Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2022. http://dx.doi.org/10.37766/inplasy2022.12.0031.

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Henry, Stephen Michael, Mark A. Smith, and John P. Eddy. Holistic Portfolio Optimization using Directed Mutations. Office of Scientific and Technical Information (OSTI), 2016. http://dx.doi.org/10.2172/1618206.

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Yeung, Anthony T. Detection of Mutations Using a Novel Endonuclease. Defense Technical Information Center, 1998. http://dx.doi.org/10.21236/adb238444.

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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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Dr. Elizabeth Iorns, Dr Elizabeth Iorns. Can we prevent the transmission of BRCA mutations? Experiment, 2013. http://dx.doi.org/10.18258/0090.

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Lapedes, A. S., B. G. Giraud, L. C. Liu, and G. D. Stormo. Correlated mutations in protein sequences: Phylogenetic and structural effects. Office of Scientific and Technical Information (OSTI), 1998. http://dx.doi.org/10.2172/296863.

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Beernink, P., D. Barsky, and B. Pesavento. Mutations that Cause Human Disease: A Computational/Experimental Approach. Office of Scientific and Technical Information (OSTI), 2006. http://dx.doi.org/10.2172/898012.

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Grapes, Laura, Stephen Rudd, Rohan L. Fernando, Karine Megy, Dominique Rocha, and Max F. Rothschild. Searching for mutations in pigs using the human genome. Iowa State University, 2005. http://dx.doi.org/10.31274/ans_air-180814-1070.

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Barkan, A. Transposon-induced nuclear mutations that alter chloroplast gene expression. Office of Scientific and Technical Information (OSTI), 1992. http://dx.doi.org/10.2172/6686800.

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Nelson, Peter S. Global Characterization of Protein-Altering Mutations in Prostate Cancer. Defense Technical Information Center, 2012. http://dx.doi.org/10.21236/ada568599.

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