Academic literature on the topic 'Genomic HLA'

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Journal articles on the topic "Genomic HLA"

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Amar, A., G. T. Nepom, E. Mickelson, H. Erlich, and J. A. Hansen. "HLA-DP and HLA-DO genes in presumptive HLA-identical siblings: structural and functional identification of allelic variation." Journal of Immunology 138, no. 6 (1987): 1947–53. http://dx.doi.org/10.4049/jimmunol.138.6.1947.

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Abstract We analyzed HLA class II genomic polymorphisms in three families in which bone marrow transplantation was performed between individuals presumed to be HLA identical, but in which unexplained mixed lymphocyte culture reactivity was observed. These families were characterized by classical HLA serology, MLC, and DP typing. In each family, a pair of "HLA-identical" siblings demonstrated a small proliferative response in bidirectional MLC. Southern blotting analysis performed with cDNA probes for DQ alpha, DP alpha, and DP beta identified DP genomic differences in each case. Hybridization
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Meyer, Diogo, Vitor R. C. Aguiar, Bárbara D. Bitarello, Débora Y. C. Brandt, and Kelly Nunes. "A genomic perspective on HLA evolution." Immunogenetics 70, no. 1 (2017): 5–27. http://dx.doi.org/10.1007/s00251-017-1017-3.

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Drover, Sheila, and William H. Marshall. "Transfection of HLA genes using genomic DNA." Human Immunology 31, no. 4 (1991): 293–98. http://dx.doi.org/10.1016/0198-8859(91)90102-f.

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Hansen, H. E., L. O. Vejerslev, and S. Olesen Larsen. "Hydatidiform mole and HLA. III. HLA-antigen expression related to genomic origin." Tissue Antigens 32, no. 3 (1988): 162–69. http://dx.doi.org/10.1111/j.1399-0039.1988.tb01653.x.

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Pei, Ji, S. Yoon Choo, Thomas Spies, Jack L. Strominger, and John A. Hansen. "Association of four HLA class III region genomic markers with HLA haplotypes." Tissue Antigens 37, no. 5 (1991): 191–96. http://dx.doi.org/10.1111/j.1399-0039.1991.tb01871.x.

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Balas, A., D. Planelles, M. Rodríguez-Cebriá, N. Puig, and J. L. Vicario. "Genomic sequences of HLA-A*68:169, HLA-B*07:298 and HLA-B*39:129." International Journal of Immunogenetics 45, no. 3 (2018): 140–42. http://dx.doi.org/10.1111/iji.12360.

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D'Amato, Mauro, Rosa Sorrentino, and Roberto Tosi. "Extremely simplified sample preparation for HLA genomic typing." Tissue Antigens 39, no. 1 (1992): 40–41. http://dx.doi.org/10.1111/j.1399-0039.1992.tb02156.x.

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Yamashita, T., K. Tokunaga, K. Tadokoro, T. Juji, and Y. Taketanl. "Correction of the HLA-G*01012 genomic sequence." Tissue Antigens 49, no. 6 (1997): 673–74. http://dx.doi.org/10.1111/j.1399-0039.1997.tb02823.x.

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Geraphty, Daniel E., Marta Janer, and Thierry Guillaudeux. "Genomic sequencing of the HLA class I region." Human Immunology 47, no. 1-2 (1996): 66. http://dx.doi.org/10.1016/0198-8859(96)85045-2.

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Shiina, Takashi. "Next generation sequencing based HLA genomic and polymorphism analyses." Major Histocompatibility Complex 22, no. 2 (2015): 84–94. http://dx.doi.org/10.12667/mhc.22.84.

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Dissertations / Theses on the topic "Genomic HLA"

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Aldener-Cannavá, Anna. "HLA polymorphism : genomic typing and impact on unrelated stem cell transplantation /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4593-4/.

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Mandage, Rajendra 1984. "Understanding interactions between EBV and human genomic variation." Doctoral thesis, Universitat Pompeu Fabra, 2018. http://hdl.handle.net/10803/586328.

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The EBV has been linked to multiple human disease phenotypes and has been associated with cancers and other infections. Recently single gene analysis and genome-wide analysis studies have been exploited to uncover the human genetic variants that are linked with EBV diseases. It also suggested the substantial role of individual host genetics and also provided a clue in understanding the interaction between virus and human. Furthermore, the outcome of the EBV infection is a complex phenomenon governs by the variation in the genetic architecture of the viral and human genomes and/or the interacti
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Pimentel-Santos, Fernando Manuel. "Ankylosing spondylitis: genomic and functional characterization of candidate genes and their repercussion in clinical practice." Doctoral thesis, Faculdade de Ciências Médicas. Universidade Nova de Lisboa, 2012. http://hdl.handle.net/10362/7806.

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RESUMO: Introdução: A espondilite anquilosante (EA) é uma doença inflamatória crónica caracterizada pela inflamação das articulações sacroilíacas e da coluna. A anquilose progressiva motiva uma deterioração gradual da função física e da qualidade de vida. O diagnóstico e o tratamento precoces podem contribuir para um melhor prognóstico. Neste contexto, a identificação de biomarcadores, assume-se como sendo muito útil para a prática clínica e representa hoje um grande desafio para a comunidade científica. Objetivos: Este estudo teve como objetivos: 1 - caracterizar a EA em Portugal; 2 - invest
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Mendes, Fábio Henrique Kuriki. "Seleção natural em genes HLA e seu efeito sobre regiões adjacentes do genoma." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-02082013-161104/.

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O MHC é uma região genômica que contém genes de papel central na resposta imune adaptativa. Genes do MHC e, particularmente, genes HLA em humanos, estão envolvidos susceptibilidade e resistência a doenças infecciosas, na predisposição a doenças autoimunes e na rejeição de órgãos transplantados. Essas descobertas incentivaram uma série de estudos sobre padrões da variabilidade genética em genes HLA, que demonstraram possuir uma variação bastante distinta da expectativa neutra. Essa contundente evidência de seleção natural, ímpar no genoma humano, levanta uma série de perguntas a respeito das fo
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Landry, Jonathan [Verfasser], and Stefan [Akademischer Betreuer] Wölfl. "The genomic and transcriptomic landscape of HeLa cells / Jonathan Landry. Betreuer: Stefan Wölfl." Heidelberg : Universitätsbibliothek Heidelberg, 2012. http://d-nb.info/1061054462/34.

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Xu, Huaigeng. "Targeted Disruption of HLA genes via CRISPR-Cas9 generates iPSCs with Enhanced Immune Compatibility." Kyoto University, 2019. http://hdl.handle.net/2433/242420.

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Ohadi, Mina. "Genome mapping of a locus for familial haemophagocytic lymphohistiocytosis." Thesis, King's College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.314048.

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Bianchi, I. "LE BASI GENETICHE DELLA CIRROSI BILIARE PRIMITIVA: DAGLI STUDI DI ASSOCIAZIONE SU SINGOLO GENE AGLI STUDI SULL'INTERO GENOMA." Doctoral thesis, Università degli Studi di Milano, 2011. http://hdl.handle.net/2434/151770.

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Primary biliary cirrhosis (PBC) is a chronic cholestatic liver disease of unknown etiology. Genetic factors are critical in determining susceptibility to PBC, but there has not been a clear association with specific genes. A multicenter case-control study was performed and HLA class II DRB1 associations were analyzed using a large cohort of 664 cases of PBC and 1,992 controls of Italian ancestry; healthy controls were rigorously matched by age, sex, and also for the geographical origin of the proband four grandparents (Northern, Central, and Southern Italy). After correction for multiple testi
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Fries, Jonna. "Hela Jaget : en analys av Anna Rydstedts Genom nålsögat." Thesis, Växjö University, School of Humanities, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:vxu:diva-1061.

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Gregoracci, Gustavo Bueno. "Terapia experimental com bacteriófagos." [s.n.], 2010. http://repositorio.unicamp.br/jspui/handle/REPOSIP/317028.

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Orientador: Marcelo Brocchi<br>Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-19T03:47:25Z (GMT). No. of bitstreams: 1 Gregoracci_GustavoBueno_D.pdf: 6197096 bytes, checksum: 05eb5e18d8084e5c5f742c6ec5afd63d (MD5) Previous issue date: 2010<br>Resumo: Bacteriófagos são vírus que infectam bactérias e arqueias, representando as entidades biológicas mais abundantes do mundo e influenciando de maneira marcante populações naturais de seus hospedeiros. A terapia com bacteriófagos, que representa uma das primeiras formas modernas de
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Books on the topic "Genomic HLA"

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Carrier, Carmelita Martins. Genomic variation of HLA-class II genes in multiplex juvenile type I diabetes. 1988.

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Schulkin, Jay. Conservation of CRF in Brains and its Regulation by Adrenal Steroids. Oxford University Press, 2017. http://dx.doi.org/10.1093/acprof:oso/9780198793694.003.0003.

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The regulation of the HPA axis has been categorized as the classical mechanism of slow-acting genomic regulation of gene products, but this has given way to both slow and fast regulation of the HPA axis. We do not know how cortisol restrains the production of CRF in the paraventricular nucleus, thereby directly decreasing ACTH and, subsequently, cortisol; we know the classical negative-feedback regulatory system, which provides a mechanism, but how it works, well, that is another thing. Glucocorticoids restrain the HPA axis, but not other regions of the brain, such as the central nucleus of th
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Siebert, Stefan, Sengupta Raj, and Alexander Tsoukas. The genetics of axial spondyloarthritis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198755296.003.0004.

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Family and twin studies have long suggested a large genetic component in ankylosing spondylitis (AS). The genetic association with HLA-B27 remains one of the strongest single gene variant associations reported in any complex polygenic disease. The exact mechanism by which HLA-B27 contributes to AS remains unknown, with three main theories proposed: the arthritogenic peptide, endoplasmic reticulum stress with unfolded protein response, and homodimerization theories. Genome-wide association studies have identified a number of other important susceptibility genes for AS, several of which overlap
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Brown, Matthew A., and John Reveille. Genetics of spondyloarthritis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198734444.003.0005.

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In addition to sharing clinical, histopathological, and immunological features, spondyloarthritis (SpA) encompasses a group of diseases that are genetically linked through shared associations with HLA-B27, as well as other genes of the IL-23R and aminopeptidase groups. Great progress has been made since the development of the genome-wide association study approach, with better dissection of the HLA associations of this group of diseases, as well as the discovery of multiple genetic loci found outside of the major histocompatibility complex, in ankylosing spondylitis (AS) in particular. These g
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Siebert, Stefan, Sengupta Raj, and Alexander Tsoukas. A brief history of ankylosing spondylitis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198755296.003.0002.

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The history of ankylosing spondylitis (AS) dates back to the discovery of skeletons with characteristic spinal changes. The disease was further defined by correlating pathological and clinical features, and the development of clinical radiology. Subsequent epidemiology and familial studies highlighted the association with other related conditions as part of the spondyloarthritides. The discovery of HLA-B27 confirmed this association. Over the past two decades, genome-wide association studies, and advances in imaging and immunology have yielded dramatic insights into the disease and the develop
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Hinks, Anne, and Wendy Thomson. Genetics of juvenile rheumatic diseases. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199642489.003.0043_update_002.

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Juvenile rheumatic diseases are heterogeneous, complex genetic diseases; to date only juvenile idiopathic arthritis (JIA) has been extensively studied in terms of identifying genetic risk factors. The MHC region is a well-established risk factor but in the last few years candidate gene and large-scale genome-wide association studies have been utilized in the search for non-HLA risk factors. There are now 17 JIA susceptibility loci which reach the genome-wide significance threshold for association and a further 7 regions with evidence for association in more than one study. In addition, some su
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Hinks, Anne, and Wendy Thomson. Genetics of juvenile rheumatic diseases. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199642489.003.0043_update_003.

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Juvenile rheumatic diseases are heterogeneous, complex genetic diseases; to date only juvenile idiopathic arthritis (JIA) has been extensively studied in terms of identifying genetic risk factors. The MHC region is a well-established risk factor but in the last few years candidate gene and large-scale genome-wide association studies have been utilized in the search for non-HLA risk factors. There are now 17 JIA susceptibility loci which reach the genome-wide significance threshold for association and a further 7 regions with evidence for association in more than one study. In addition, some su
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Patisaul, Heather B., and Scott M. Belcher. Receptor and Enzyme Mechanisms as Targets for Endocrine Disruptors. Oxford University Press, 2017. http://dx.doi.org/10.1093/acprof:oso/9780199935734.003.0005.

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In this chapter, the current understanding of the mechanisms of endocrine disruption on the brain and nervous system are presented. Because the overwhelming majority of mechanistic studies on EDCs have focused on the actions mediated by nuclear hormone receptors, this mechanisms is described in detail. The chapter also discusses the classic transcriptional mechanisms of steroid action and the impact of EDCs on rapid signaling (non-genomic) mechanisms. It presents an overview of the enzymes and pathways involved in the biosynthesis of steroid hormones, which are critical to proper functioning o
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Walsh, Bruce, and Michael Lynch. Using Molecular Data to Detect Selection: Signatures from Multiple Historical Events. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0010.

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This chapter examines the search for a pattern of repetitive adaptive substitutions over evolutionary time. In contrast with the previous chapter, only a modest number of tests toward this aim have been proposed. The HKA and McDonald-Kreitman tests contrast the polymorphism to divergence ratio between different genomic classes (such as different genes or silent versus replacement sites within the same gene). These approaches can detect an excess of substitutions, which allows one to estimate the fraction of adaptive sites. This chapter reviews the empirical data on estimates of this fraction a
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Nordiska ministerrådets policy för integrering av hållbar utveckling, jämställdhet och ett barnrätts- och ungdomsperspektiv. Nordic Council of Ministers, 2020. http://dx.doi.org/10.6027/politiknord2020-717.

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Hållbar utveckling, jämställdhet och ett barnrätts- och ungdomsperspektiv är övergripande områden som är viktiga för hela Nordiska ministerrådets arbete. Ansvaret att ta hänsyn till dessa i Nordiska ministerrådets arbete gäller alla som verkar inom eller på uppdrag av Nordiska ministerrådet oavsett politikområde. Genom att stärka detta arbete säkerställer vi att Nordiska ministerrådets arbete är hållbart, jämställt, inkluderande, representativt och tillgängligt.
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Book chapters on the topic "Genomic HLA"

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Dawkins, R. L., P. H. Kay, E. Martin, and F. T. Christiansen. "The Genomic Structure of Ancestral Haplotypes Revealed by Pulsed Field Gel Electrophoresis (PFGE)." In Immunobiology of HLA. Springer New York, 1989. http://dx.doi.org/10.1007/978-1-4612-3552-1_261.

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Monos, Dimitri S., Massimo Trucco, Richard S. Spielman, Susan F. Radka, Chester M. Zmijewski, and Malek Kamoun. "Biochemical and Genomic Characterization of HLA-DQ Gene Products Associated with DR3, DR4, and DR5 Haplotypes." In Immunobiology of HLA. Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-662-39946-0_107.

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Kawaguchi, Shuji, and Fumihiko Matsuda. "High-Definition Genomic Analysis of HLA Genes Via Comprehensive HLA Allele Genotyping." In Methods in Molecular Biology. Springer US, 2020. http://dx.doi.org/10.1007/978-1-0716-0389-5_3.

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Pötsch, L., L. Penzes, M. Prager-Eberle, P. M. Schneider, and Ch Rittner. "Sex Determination by Genomic Dot Blot Hybridization and HLA DQα Typing by PCR from Fixed Tissues." In Advances in Forensic Haemogenetics. Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-77324-2_27.

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Jinam, Timothy A. "Human Leukocyte Antigen (HLA) Region in Human Population Studies." In Evolution of the Human Genome I. Springer Japan, 2017. http://dx.doi.org/10.1007/978-4-431-56603-8_9.

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Bodmer, Julia. "World Distribution of HLA Alleles and Implications for Disease." In Ciba Foundation Symposium 197 - Variation in the Human Genome. John Wiley & Sons, Ltd., 2007. http://dx.doi.org/10.1002/9780470514887.ch13.

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Paro, Renato, Ueli Grossniklaus, Raffaella Santoro, and Anton Wutz. "Biology of Chromatin." In Introduction to Epigenetics. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-68670-3_1.

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AbstractThis chapter provides an introduction to chromatin. We will examine the organization of the genome into a nucleosomal structure. DNA is wrapped around a globular complex of 8 core histone proteins, two of each histone H2A, H2B, H3, and H4. This nucleosomal arrangement is the context in which information can be established along the sequence of the DNA for regulating different aspects of the chromosome, including transcription, DNA replication and repair processes, recombination, kinetochore function, and telomere function. Posttranslational modifications of histone proteins and modifications of DNA bases underlie chromatin-based epigenetic regulation. Enzymes that catalyze histone modifications are considered writers. Conceptually, erasers remove these modifications, and readers are proteins binding these modifications and can target specific functions. On a larger scale, the 3-dimensional (3D) organization of chromatin in the nucleus also contributes to gene regulation. Whereas chromosomes are condensed during mitosis and segregated during cell division, they occupy discrete volumes called chromosome territories during interphase. Looping or folding of DNA can bring regulatory elements including enhancers close to gene promoters. Recent techniques facilitate understanding of 3D contacts at high resolution. Lastly, chromatin is dynamic and changes in histone occupancy, histone modifications, and accessibility of DNA contribute to epigenetic regulation.
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Mehra, Narinder K., and Gurvinder Kaur. ". Genomic Diversity of HLA in the Indian Subcontinent." In Genomics and Health in the Developing World. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195374759.003.0075.

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Toni Hò, Gia-Gia, Wiebke Hiemisch, Andreas Pich, et al. "Small Molecule/HLA Complexes Alter the Cellular Proteomic Content." In New Insights into the Future of Pharmacoepidemiology and Drug Safety. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.97373.

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A medical product usually undergoes several clinical trials, including the testing of volunteers. Nevertheless, genomic variances in the patients cannot be considered comprehensively and adverse drug reactions (ADRs) are missed or misinterpreted during trials. Despite the relation between ADRs and human leukocyte antigen (HLA) molecules being known for several years, the fundamental molecular mechanisms leading to the development of such an ADR often remains only vaguely solved. The analysis of the peptidome can reveal changes in peptide presentation post-drug treatment and explain, for example, the severe cutaneous ADR in HLA-B*57:01-positive patients treated with the antiretroviral drug abacavir in anti-HIV therapy. However, as seen in the biophysical features of HLA-A*31:01-presented peptides, treatment with the anticonvulsant carbamazepine only induces minor changes. Since the binding of a drug to a certain HLA allelic variant is extremely distinct, the influence of the small molecule/protein complex on the proteomic content of a cell becomes clear. A sophisticated methodology elucidating the impact of drug treatment on cells is a full proteome analysis. The principal component analysis of abacavir, carbamazepine or carbamazepine-10,11-epoxid treated cells reveals clear clustering of the drug-treated and the untreated samples that express the respective HLA molecule. Following drug treatment, several proteins were shown to be significantly up- or downregulated. Proteomics and peptidomics are valuable tools to differential clinical outcomes of patients with the same HLA phenotype.
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Antoine, Dan, Neil French, and Munir Pirmohamed. "Predictive Strategies for ADRs – Biomarkers and In Vitro Models." In Pharmacology for Chemists: Drug Discovery in Context. The Royal Society of Chemistry, 2017. http://dx.doi.org/10.1039/bk9781782621423-00343.

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It has been widely reported that currently used biomarkers of drug toxicity lack sensitivity, specificity and a fundamental mechanistic basis. The lack of qualified mechanistic biomarkers has resulted in a significant challenge to investigate the true extent and diagnosis of ADRs. Two current organ systems that are frequent toxicology targets for marketed drugs or those in development include the liver and kidney. The currently clinical available biochemical tests used for both of these organ systems lack sensitivity and specificity. There is also increasing interest in genomic biomarkers in drug safety, with most of the advances being seen with HLA gene polymorphisms and the risk for immune-mediated diseases affecting different organ systems, most prominently the skin and liver. We will focus on all these areas in this chapter.
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Conference papers on the topic "Genomic HLA"

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Zhao, Jian, Jie Hu, Xiuqin Zhang, et al. "Abstract 1896: The genomic features of Chinese cancer patients harboring HLA LOH." In Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-1896.

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Garcia-Marquez, MA, M. Thelen, E. Bauer, et al. "10.02 Genomic HLA homozygosity is frequent in esophageal adenocarcinoma and related to low immunogenicity." In iTOC8 – the 8th Leading International Cancer Immunotherapy Conference in Europe, 8–9 October 2021, Virtual Conference. BMJ Publishing Group Ltd, 2021. http://dx.doi.org/10.1136/jitc-2021-itoc8.2.

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Beasley, Aaron, Anna Reid, Leslie Calapre, Michael Millward, Elin Gray, and Afaf Abed. "577 The variation of T-cell receptors (TCR) diversity and genomic human leukocyte antigen (HLA-I) among non-small cell lung cancer (NSCLC) patients expressing high PDL-1 (≥50%) versus those with low or no PDL1 (<50%)." In SITC 37th Annual Meeting (SITC 2022) Abstracts. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/jitc-2022-sitc2022.0577.

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"Detection of the binding the stress HliA protein Synechocystis sp. with pigments." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-181.

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Malhotra, Raunaq, Alexandar Krasnitz, Anurag Sethi, Erik Lehnert, Elizabeth H. Williams, and Davis-Dusenbery N. Brandi. "Abstract 2348: Low-cost and accurate human leukocyte antigen (HLA) class I typing of The Cancer Genome Atlas on the Seven Bridges Cancer Genomics Cloud." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-2348.

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Harjanto, Dewi, Jennifer G. Abelin, Matthew Malloy, et al. "Abstract B23: Enhanced HLA-II epitope prediction for immunotherapy with novel proteomics and genomics approaches." In Abstracts: AACR Special Conference on Tumor Immunology and Immunotherapy; November 17-20, 2019; Boston, MA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/2326-6074.tumimm19-b23.

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"Alleles and haplotypes diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in Russia." In Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB-2022) :. Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, 2022. http://dx.doi.org/10.18699/sbb-2022-212.

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"The effect of "early"protein of papillomavirus HPV16 E2 made in plant expression system on the base of tomato fruit on tumor formation in mice infected with cancer HeLa cells." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-168.

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Han, Chunchun, Wei Wang, Jiwen Wang, and Liang Li. "Classfication and Evolution of HLH Family Members in Poultry Genome." In 2009 WRI World Congress on Computer Science and Information Engineering. IEEE, 2009. http://dx.doi.org/10.1109/csie.2009.33.

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Carneiro, Luis Felipe Ferreira, Osmar Júnior Da Silva Silva, Matteus Gomes De Oliveira, and Salomão Bruno Dos Santos Brasil. "TERAPIA GÊNICA NO TRATAMENTO DE ANEMIA FALCIFORME, UMA REVISÃO DE LITERATURA." In II Congresso Brasileiro de Hematologia Clínico-laboratorial On-line. Revista Multidisciplinar em Saúde, 2022. http://dx.doi.org/10.51161/hematoclil/133.

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Introdução: A anemia falciforme é causada por uma mutação pontual no gene beta da globina, essa substituição origina uma molécula de hemoglobina anormal denominada hemoglobina S (HbS), ao invés da hemoglobina normal chamada de hemoglobina A (HbA). Nesse sentido, com o recente desenvolvimento e aplicabilidade das técnicas de terapia gênica houve uma nova perspectiva de mais uma opção de cura, tendo como principal diferencial ser um tratamento de transplante de células hematopoiéticas (HSCs) autólogo. Objetivos: O objetivo dessa revisão é compilar as informações mais recentes sobre o uso da tera
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Reports on the topic "Genomic HLA"

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Mevarech, Moshe, Jeremy Bruenn, and Yigal Koltin. Virus Encoded Toxin of the Corn Smut Ustilago Maydis - Isolation of Receptors and Mapping Functional Domains. United States Department of Agriculture, 1995. http://dx.doi.org/10.32747/1995.7613022.bard.

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Ustilago maydis is a fungal pathogen of maize. Some strains of U. maydis encode secreted polypeptide toxins capable of killing other susceptible strains of U. maydis. Resistance to the toxins is conferred by recessive nuclear genes. The toxins are encoded by genomic segments of resident double-strande RNA viruses. The best characterized toxin, KP6, is composed of two polypeptides, a and b, which are not covalently linked. It is encoded by P6M2 dsRNA, which has been cloned, sequenced and expressed in a variety of systems. In this study we have shown that the toxin acts on the membranes of sensi
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Gur, Amit, Edward Buckler, Joseph Burger, Yaakov Tadmor, and Iftach Klapp. Characterization of genetic variation and yield heterosis in Cucumis melo. United States Department of Agriculture, 2016. http://dx.doi.org/10.32747/2016.7600047.bard.

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Project objectives: 1) Characterization of variation for yield heterosis in melon using Half-Diallele (HDA) design. 2) Development and implementation of image-based yield phenotyping in melon. 3) Characterization of genetic, epigenetic and transcriptional variation across 25 founder lines and selected hybrids. The epigentic part of this objective was modified during the course of the project: instead of characterization of chromatin structure in a single melon line through genome-wide mapping of nucleosomes using MNase-seq approach, we took advantage of rapid advancements in single-molecule se
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Nilsson, Hans, Magnus Appelberg, and Thomas Axenros. Provtagningsmetoder av akvatiska resurser med 3R i fokus. Institutionen för akvatiska resurser, Sveriges lantbruksuniversitet, 2023. http://dx.doi.org/10.54612/a.5o01b216ml.

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Flertalet av de övervakningsmetoder av fisk- och skaldjur som idag används globalt är dödande eller invasiva. Under 2020 hanterade SLU Aqua över 9 miljoner individer av fisk under fiskerioberoende provtagning. I Sverige, till skillnad från övriga Europa, räknas även de fiskar som fångas i provfiske till försöksdjur och regeringen har anmodat att myndigheter som använder försöksdjur bör upprätta strategier för sitt arbete med frågor som rör 3R, dvs. Replace (ersätta), Reduce (minska) och Refine (förfina). I syfte att undersöka möjligheterna att implementera 3R i SLU Aquas övervakning av fiskbes
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Haikola, Simon, and Jonas Anshelm. Staten, marknaden och industripolitikens återupprättelse: Visioner om transportsystemets klimatomställning, 2006-2022. Linköping University Electronic Press, 2023. http://dx.doi.org/10.3384/9789180750790.

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Trots upprepade politiska utfästelser om att transportsystemet ska bli fossilfritt har dess omställning gått trögt. Det har länge funnits en påtaglig kontrast mellan visionerna för transportsystemets omställning och de faktiskt vidtagna åtgärderna. De dominerande förklaringarna till denna kontrast, liksom föreställningarna om vad som kan göras, har skiftat över tid och beroende på vilken regering som suttit vid makten. I grunden kretsar de emellertid alltid kring samma frågor: Hur väl rustat är det svenska planeringssystemet för att genomföra en fundamental omställning av transporterna? I vilk
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Hellström, Lisa, and Linda Beckman. "Det är lite mer så här mainstream att ha psykisk ohälsa" : Samtal om ungas behov och livsfärdigheter. Malmö universitet, 2021. http://dx.doi.org/10.24834/isbn.9789178771691.

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Denna rapport ingår i forskningsprojektet Att skapa goda livsfärdigheter bland unga. Den första delrapporten var en nationell och internationell kartläggning över initiativ och insatser för att främja psykisk hälsa bland unga. Bland insatser som verkar mer lovande – och till synes har goda möjligheter att göra skillnad för ungas psykiska hälsa - framträder insatser vars syfte är att höja kunskapen om psykisk hälsa bland unga och vuxna. Ökad kunskap om psykisk hälsa har visat sig vara ett viktigt verktyg för att utveckla färdigheter i hur man tolkar och förstår sina egna känslor och sin kropp o
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Montefusco, Maria. Ett nordiskt samarbete för alla – Funktionshindersintegrering i Nordiska ministerrådets verksamhet 2021. Nordens välfärdscenter, 2021. http://dx.doi.org/10.52746/zdjo7646.

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Det nordiska samarbetet ska vara tillgängligt och inkluderande, och den politik som genereras ska vara relevant för alla nordbor oavsett funktionsförmåga. I den här rapporten presenteras hur arbetet går, och vad som händer område för område. Att integrera ett funktionshindersperspektiv handlar för Nordiska ministerrådet om att synlig- och tydliggöra situation och behov hos personer med funktionsnedsättning samt att främja inkludering genom universell utformning och tillgänglighet. Det kan gälla praktiska saker, så som att politiska möten ska vara tillgängliga och det ska gå att ta del av minis
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Barash, Itamar, J. Mina Bissell, Alexander Faerman, and Moshe Shani. Modification of Milk Composition via Transgenesis: The Role of the Extracellular Matrix in Regulating Transgene Expression. United States Department of Agriculture, 1995. http://dx.doi.org/10.32747/1995.7570558.bard.

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Altering milk composition via transgenesis depends on three main factors. (1) The availability of an efficient regulatory sequences for targeting transgene(s) to the mammary gland; (2) a reliable in vitro model to test the expression of transgenes prior to their introduction to the animal genome; and (3) better understanding of the major factors which determine the rate of gene expression and protein synthesis. The current studies provide the necessary means and knowledge to alter milk protein composition via transgenesis. The following specific goals were achieved: a: Identifying regulatory r
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Bergström, Ulf, and Mårten Erlandsson. Spiggens påverkan på rekryteringsområden för abborre och gädda i Östersjön. Institutionen för akvatiska resurser, Sveriges lantbruksuniversitet, 2022. http://dx.doi.org/10.54612/a.4bb5blrfa9.

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Storspigg har visat sig ha en negativ påverkan på rekryteringen av rovfiskar längs Östersjökusten, framför allt gädda och abborre, genom predation på ägg och larver. Detta leder till minskade rovfiskbestånd i kustzonen och en förlust av viktiga ekosystemfunktioner. I den här studien har vi kvantifierat omfattningen av denna störning med hjälp av rumslig och statistisk modellering där vi undersöker hur utbredning och abundans av rovfiskens reproduktionsområden förändrats över tid. I analyserna nyttjar vi data från de omfattande undersökningar av kustfiskens reproduktion längs ostkusten som gjor
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Franzén, Fredrik, Emma Svahn, Anna Lingman, and Ingrid Bergman. Biologisk recipientkontroll vid Oskarshamns kärnkraftverk : årsrapport för 2022. Institutionen för akvatiska resurser, Sveriges lantbruksuniversitet, 2023. http://dx.doi.org/10.54612/a.4c0gq2dgmg.

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Oskarshamns kärnkraftverk (OKG AB) påverkar den omgivande havsmiljön, främst genom användning av kylvatten. Den kylvattenpåverkade recipientens vattentemperatur var i medeltal 3,4 °C varmare än referensområdet Borholmsfjärden under 2022. Under 2022 pågick inga särskilda studier av fiskförluster i kylvattenhanteringen och det rapporterades inga avvikande händelser från kraftverkets silstation. Revisionsavställningen under våren, innebar en utebliven värmeökning i Hamnefjärden, vilket sannolikt påverkade resultatet i vårfisket med biologiska länkar till att en större andel av arterna var så kall
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Neumann, Wiebke, Fredrik Stenbacka, Jonas Malmsten, Anders Johansson, and Göran Ericsson. Årsrapport GPS-märkta älgar och inventeringar i brandområdet 2021-2022 – Fördelning, rörelse, livsmiljö, bärris och spillning. Institutionen för vilt, fisk och miljö, Sveriges lantbruksuniversitet, 2022. http://dx.doi.org/10.54612/a.4bj3vproqo.

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Nu har det redan gått två år sen vi sjösatte referensområdet ’Ljusdal’. Vi ser att årets observationer förstärker bilden vad vi såg året innan i området, samt vissa observationer liknar vad vi ser i andra studieområden, medan andra skiljer sig åt. Studieområdet i Ljusdal är speciellt i två avseenden som berör älgar direkt och därmed skiljer sig åt från andra studieområden: brandfältet och en hög täthet av brunbjörn. Som förväntat ser vi skillnader mellan olika älgindivider och resultaten liknar vad vi sett i andra delar av landet - en del älgar har helt skilda sommar- och vinterområden, andra
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