Academic literature on the topic 'Structural breakpoint'
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Journal articles on the topic "Structural breakpoint"
Wang, Dandan, Daixi Li, Guangrong Qin, Wen Zhang, Jian Ouyang, Menghuan Zhang, and Lu Xie. "The Structural Characterization of Tumor Fusion Genes and Proteins." Computational and Mathematical Methods in Medicine 2015 (2015): 1–9. http://dx.doi.org/10.1155/2015/912742.
Full textStill, Ivan H., Olga Chernova, David Hurd, Richard M. Stone, and John K. Cowell. "Molecular Characterization of the t(8; 13)(p11;q12) Translocation Associated With an Atypical Myeloproliferative Disorder: Evidence for Three Discrete Loci Involved in Myeloid Leukemias on 8p11." Blood 90, no. 8 (October 15, 1997): 3136–41. http://dx.doi.org/10.1182/blood.v90.8.3136.
Full textVaandrager, Jan-Willem, Ed Schuuring, Katja Philippo, and Philip M. Kluin. "V(D)J recombinase-mediated transposition of the BCL2gene to the IGH locus in follicular lymphoma." Blood 96, no. 5 (September 1, 2000): 1947–52. http://dx.doi.org/10.1182/blood.v96.5.1947.
Full textVaandrager, Jan-Willem, Ed Schuuring, Katja Philippo, and Philip M. Kluin. "V(D)J recombinase-mediated transposition of the BCL2gene to the IGH locus in follicular lymphoma." Blood 96, no. 5 (September 1, 2000): 1947–52. http://dx.doi.org/10.1182/blood.v96.5.1947.h8001947_1947_1952.
Full textSchnause, Anna Clara, Katalin Komlosi, Barbara Herr, Jürgen Neesen, Paul Dremsek, Thomas Schwarz, Andreas Tzschach, et al. "Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation." Genes 12, no. 11 (November 21, 2021): 1836. http://dx.doi.org/10.3390/genes12111836.
Full textWareham, D. G., K. J. Hall, and D. S. Mavinic. "An ORP screening protocol for biological phosphorus removal in sequencing batch reactors." Canadian Journal of Civil Engineering 22, no. 2 (April 1, 1995): 260–69. http://dx.doi.org/10.1139/l95-035.
Full textLefeuvre, P., J. M. Lett, A. Varsani, and D. P. Martin. "Widely Conserved Recombination Patterns among Single-Stranded DNA Viruses." Journal of Virology 83, no. 6 (December 30, 2008): 2697–707. http://dx.doi.org/10.1128/jvi.02152-08.
Full textBeauchamp, N. J., M. Makris, F. E. Preston, I. R. Peake, and M. E. Daly. "Major Structural Defects in the Antithrombin Gene in Four Families with Type I Antithrombin Deficiency." Thrombosis and Haemostasis 83, no. 05 (2000): 715–21. http://dx.doi.org/10.1055/s-0037-1613898.
Full textvan den Broek, Evert, Stef van Lieshout, Christian Rausch, Bauke Ylstra, Mark A. van de Wiel, Gerrit A. Meijer, Remond J. A. Fijneman, and Sanne Abeln. "GeneBreak: detection of recurrent DNA copy number aberration-associated chromosomal breakpoints within genes." F1000Research 5 (September 19, 2016): 2340. http://dx.doi.org/10.12688/f1000research.9259.1.
Full textvan den Broek, Evert, Stef van Lieshout, Christian Rausch, Bauke Ylstra, Mark A. van de Wiel, Gerrit A. Meijer, Remond J. A. Fijneman, and Sanne Abeln. "GeneBreak: detection of recurrent DNA copy number aberration-associated chromosomal breakpoints within genes." F1000Research 5 (July 6, 2017): 2340. http://dx.doi.org/10.12688/f1000research.9259.2.
Full textDissertations / Theses on the topic "Structural breakpoint"
Zeileis, Achim, and Christian Kleiber. "Validating multiple structural change models. A case study." Institut für Statistik und Mathematik, WU Vienna University of Economics and Business, 2004. http://epub.wu.ac.at/584/1/document.pdf.
Full textSeries: Research Report Series / Department of Statistics and Mathematics
Zeileis, Achim, and Christian Kleiber. "Validating multiple structural change models. An extended case study." Institut für Statistik und Mathematik, WU Vienna University of Economics and Business, 2005. http://epub.wu.ac.at/280/1/document.pdf.
Full textSeries: Research Report Series / Department of Statistics and Mathematics
Oliveira, Mariana Angelozzi de. "Caracterização de rearranjos cromossômicos em pacientes com malformações congênitas múltiplas e/ou retardamento mental (MCA/MR)." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-08072008-110038/.
Full textTwo apparently \"de novo\" balanced translocations and one duplication of the short arm of chromosome 20 were studied. Our aim was to determine the breakpoints by chromosomal analysis through fluorescentin situ hybridization (FISH) and identify candidate genes and how they were involved with the clinical phenotypes of the patients. Patient 1 carried a duplication of the short arm of chromosome 20 (p11.22p13), inherited from the mother that showed normal and dup(20) lymphocytes. The duplication was determined by FISH using BAC and PAC clones, and nine clones were duplicated except one (20p11.21). The patient shared many of the common characteristics of trisomy 20p including delay in motor development, hypertelorism, poor coordination, round face with prominent cheeks, vertebral and dental abnormalities and cranial asymmetry with high and large forehead. She also had learning difficulties, behavioral disorders and pubertal growth spurt at 12 years. As our patient is an example of pure trisomy 20p, the features are of particular importance to delineate the syndrome. Three genes were mapped on the segment that contain the duplication (20p11.2-13), one of these genes is the SSTR4 (Somatostatin receptor 4). The somatostatin is widely distributed throughout the body and is important regulator of endocrine and nervous system function. It is an inhibitor of growth hormone secretion. The second gene is the BMP2 that produce bone morphogenetic proteins and it has a direct function with the nervous system. The third gene is the GHRH that produce proteins connected with the growth hormone. These genes might have been over expressed and thus contributing to the patient\'s clinical features. Patient 2, carried a 46,XY,t(5;14)(q14.1;q31.3)de novo translocation. On chromosome 14 the breakpoint was mapped to a segment contained in BAC RP11-315O17 (14q31.3). On the chromosome 5 the breakpoint was mapped to a segment contained in BAC RP11-30D15 (5q14.1). Although the breakpoint, on the chromosome 14, has been mapped in 14q31.3, our patient shared many of the common characteristics of terminal 14q32 deletion: mental retardation, dolicocephaly, prominent ears, hypertelorism, strabismus, upturned palpebral fissures, highly arched palate, simian crease, severe myopia, coloboma and palpebral ptosis. As mental retardation and ocular abnormalities were the main patient\'s clinical features, we are suggesting that: 1) a region of segment 14q31.3 was deleted. 2) A gene inside this segment (14q31.3) could be responsible for ocular development and 3) a disrupted gene could interfere on the expression of other genes. On chromosome 5 eleven genes were localized and four of them are expressed in nervous system (AP3B1; SCAMP1; BHMT2 e CMYA5). One of these genes might have been disrupted and is contributing to the patient\'s clinical features. Patient 3 was the carrier of a 46,XY,t(1;15)(p13.2;q25.2)de novo translocation. The breakpoint on chromosome 15 was mapped to the segment contained in clone RP11-152F13 (15q25.2). The breakpoint on chromosome 1 was mapped to the segment contained in clone RP5-1037B23 (1p13.2). The genes mapped at the breakpoint regions of chromosome 1 and chromosome 15 are expressed in nervous system and muscles. Our patient shows few clinical features: speech delay, stutter and learning difficulties, probably because one or more of these genes, mapped at the breakpoint region, could be disrupted.
Vieira, Luiz Carlos Zangrande. "Os mecanismos de formação e os efeitos clínicos de duas deleções cromossômicas: del(X)(p11.23) e del(8)(p23.1)." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-26102007-172006/.
Full textStructural chromosomal alterations related to clinical phenotypes bring the opportunity to identify gene mutations determining the pathologies, because the causative genes may have been disrupted by the breaks or may have an altered number of copies. The delimitation of the segments involved in the chromosomal rearrangements is necessary for these genotype-phenotype correlations. The characterization of breakpoint and junction sequences in these chromosome alterations enables the identification of mechanisms originating them, and evidence has been produced pointing to the participation of particular genomic sequences in their formation. In this work, we studied two chromosomal deletions in patients with syndromic mental retardation, combining chromosomal analysis by fluorescent in situ hybridization (FISH) to DNA analysis. Our aim was to determine the mechanisms that originated these aberrations and how they were involved with the clinical phenotypes.
Thomas, Antoine. "Problèmes de réarrangement avec marqueurs génomiques dupliqués." Phd thesis, Université des Sciences et Technologie de Lille - Lille I, 2014. http://tel.archives-ouvertes.fr/tel-01067114.
Full textKayondo, Jonathan K. "Genetic structure, SNP establishment, and cloning the 2La-inversion distal breakpoint in the malaria vector Anopheles gambiae." 2006. http://etd.nd.edu/ETD-db/theses/available/etd-07062006-125643/.
Full textBooks on the topic "Structural breakpoint"
Makatjane, Katleho, and Roscoe van Wyk. Identifying structural changes in the exchange rates of South Africa as a regime-switching process. UNU-WIDER, 2020. http://dx.doi.org/10.35188/unu-wider/2020/919-8.
Full textStrissel-Broeker, Pamela Lynn. The relationship of chromatin structure of breakpoints in translocations and deletions in human cancer: Specifically gliomas and leukemias. 1993.
Find full textBook chapters on the topic "Structural breakpoint"
Chong, Zechen, and Ken Chen. "Structural Variant Breakpoint Detection with novoBreak." In Methods in Molecular Biology, 129–41. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-8666-8_10.
Full textKiknadze, L. I., L. I. Gunderina, A. G. Istomina, V. D. Gusev, and L. A. Nemytikova. "Similarity Analysis of Inversion Banding Sequences in Chromosomes of Chironomus Species (Breakpoint Phylogeny)." In Bioinformatics of Genome Regulation and Structure, 245–53. Boston, MA: Springer US, 2004. http://dx.doi.org/10.1007/978-1-4419-7152-4_26.
Full textLiu, Junrong, and Zhiming Feng. "Inquiring into the Economic Structural Breakpoints and Postwar U.S. Business Cycle." In Proceedings of the Eighth International Conference on Management Science and Engineering Management, 563–70. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-55182-6_49.
Full textOhtsuki, Tomohiko, Naoki Nariai, Kaname Kojima, Takahiro Mimori, Yukuto Sato, Yosuke Kawai, Yumi Yamaguchi-Kabata, Testuo Shibuya, and Masao Nagasaki. "SVEM: A Structural Variant Estimation Method Using Multi-mapped Reads on Breakpoints." In Algorithms for Computational Biology, 208–19. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07953-0_17.
Full textMeschede, Dieter. "Structural chromosome abnormalities." In Oxford Textbook of Endocrinology and Diabetes, 1404–8. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.9084.
Full textRivero, R., and G. David. "Modeling structural breakpoints in volatility of Philippine Peso-US Dollar currency exchange rate." In Empowering Science and Mathematics for Global Competitiveness, 413–17. CRC Press, 2019. http://dx.doi.org/10.1201/9780429461903-59.
Full textHabacivch, Olivia A., Ryan A. Redilla, and James J. Jozefowicz. "The Convergence Behind the Curtain." In Applied Econometric Analysis, 89–120. IGI Global, 2020. http://dx.doi.org/10.4018/978-1-7998-1093-3.ch005.
Full text"The Ecology of Juvenile Salmon in the Northeast Pacific Ocean: Regional Comparisons." In The Ecology of Juvenile Salmon in the Northeast Pacific Ocean: Regional Comparisons, edited by Joseph A. Orsi, Jeffrey A. Harding, Suzan S. Pool, Richard D. Brodeur, Lewis J. Haldorson, James M. Murphy, Jamal H. Moss, et al. American Fisheries Society, 2007. http://dx.doi.org/10.47886/9781888569957.ch5.
Full textConference papers on the topic "Structural breakpoint"
Broek, E. van den, O. Krijgsman, D. Sie, JC Haan, M. Komor, J. Traets, DAM Heideman, et al. "Abstract 4285: Structural variant breakpoint detection in advanced colorectal cancer." 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.am2014-4285.
Full textOduro-Gyimah, Francis Kwabena, and Kwame Osei Boateng. "Investigating the influence of seasonality and structural breakpoint on telecommunication network traffic prediction." In 2018 IEEE 7th International Conference on Adaptive Science & Technology (ICAST). IEEE, 2018. http://dx.doi.org/10.1109/icastech.2018.8507112.
Full textBroek, Evert van den, Maurits J. J. Dijkstra, Quirinus J. M. Voorham, Beatriz Carvalho, Mark A. van de Wiel, Sanne Abeln, Gerrit A. Meijer, and Remond J. A. Fijneman. "Abstract A07: Detection of structural variants and recurrent breakpoint genes in colorectal adenoma-to-carcinoma progression." In Abstracts: AACR Special Conference: Colorectal Cancer: From Initiation to Outcomes; September 17-20, 2016; Tampa, FL. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.crc16-a07.
Full textRybina, Natalia Vladimirovna, Alexey Viktorovich Alpatov, Nikolai Borisovich Rybin, and Alexei Alekseevich Maslov. "Determination of Surface Structural Complexity of Solid-State Materials." In 32nd International Conference on Computer Graphics and Vision. Keldysh Institute of Applied Mathematics, 2022. http://dx.doi.org/10.20948/graphicon-2022-1012-1019.
Full textSchultz, Nicole, Elizabeth Aston, Jane Metrik, and Jason Ramirez. "Validation of the Marijuana Purchase Task Among Adolescent Marijuana Users." In 2021 Virtual Scientific Meeting of the Research Society on Marijuana. Research Society on Marijuana, 2022. http://dx.doi.org/10.26828/cannabis.2022.01.000.43.
Full textHorrell, Jeremy C., Aileen M. Aldrich, and Heidi J. Gill Super. "Abstract 2990: Analysis of chromatin structure in the Myeloid-Lymphoid Leukemia gene translocation breakpoint cluster region." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-2990.
Full textMatthews, R. J., D. S. Anson, I. R. Peake, and A. L. Bloom. "GENE DELETIONS IN THE FACTOR IX LOCUS." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643871.
Full textHamed, Ashraf M., Paramsothy Jayakumar, Michael D. Letherwood, David J. Gorsich, Antonio M. Recuero, and Ahmed A. Shabana. "Ideal Compliant Joints and Integration of Computer Aided Design and Analysis." In ASME 2014 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. American Society of Mechanical Engineers, 2014. http://dx.doi.org/10.1115/detc2014-34423.
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