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Bibliografias temáticas / Genetic polymorphisms

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Literatura científica selecionada sobre o tema "Genetic polymorphisms"

Autor: Grafiati

Publicado: 4 de junho de 2021

Última modificação: 25 de julho de 2025

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Artigos de revistas sobre o assunto "Genetic polymorphisms"

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Delluc, Aurélien, Lénaïck Gourhant, Karine Lacut, et al. "Association of common genetic variations and idiopathic venous thromboembolism." Thrombosis and Haemostasis 103, no. 06 (2010): 1161–69. http://dx.doi.org/10.1160/th09-07-0430.

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SummaryVenous thromboembolism (VTE) is a multifactorial disease, caused by interacting environmental and genetic risk factors. Gene-centric geno-typing strategy is one of the approaches to explore unexplained associations between risk factors and VTE. It was the objective of this study to evaluate, using a gene-centric genotyping strategy, polymorphisms in genes involved in the following pathways: coagulation cascade process, renin-angiotensin or adrenergic systems, lipid metabolism, platelet aggregation. Allele frequency was compared between 677 cases with idiopathic VTE and their matched con

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Siddique, Imad, K. Scott Brimble, Louise Walkin, et al. "Genetic Polymorphisms and Peritoneal Membrane Function." Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 35, no. 5 (2015): 517–29. http://dx.doi.org/10.3747/pdi.2014.00049.

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BackgroundOutcomes for peritoneal dialysis (PD) patients are affected by the characteristics of the peritoneal membrane, which may be determined by genetic variants. We carried out a systematic review of the literature to identify studies which assessed the association between genetic polymorphisms, peritoneal membrane solute transport, and clinical outcomes for PD patients.MethodsThe National Library of Medicine was searched using a variety of strategies. Studies which met our inclusion criteria were reviewed and data abstracted. Our outcomes of interest included: high transport status perito

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Verloop, Herman, Olaf M. Dekkers, Robin P. Peeters, Jan W. Schoones, and Johannes W. A. Smit. "GENETICS IN ENDOCRINOLOGY: Genetic variation in deiodinases: a systematic review of potential clinical effects in humans." European Journal of Endocrinology 171, no. 3 (2014): R123—R135. http://dx.doi.org/10.1530/eje-14-0302.

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Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymor

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Ventriglio, A., A. Petito, A. Gentile, et al. "Pharmacodynamic targets of psychotic patients treated with a long-acting therapy." European Psychiatry 41, S1 (2017): S366—S367. http://dx.doi.org/10.1016/j.eurpsy.2017.02.370.

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IntroductionGiven the poor compliance of schizofrenic patients to antipsychotic therapies, are been developed drugs in long-acting formulation that for their pharmacokinetic ensures prolonged therapeutic activities. Currently, we consider that their efficacy depends on hereditary tracts, influencing both pharmacodynamic and pharmacokinetic parameters.ObjectiveInvestigate relationships between clinical efficacy and genetic polymorphims of long-acting drugs’ pharmacodynamic targets.MethodsSeventy-eight psychotic patients, treated with atypical long-acting antipsychotics (olanzapine pamoate, pali

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Trush, E. A., A. E. Karchevskaya, R. V. Maslennikov, E. A. Poluektova, O. S. Shifrin, and V. T. Ivashkin. "Single Nucleotide Polymorphisms, Associated with Increased Risk of Irritable Bowel Syndrome with Predominant Constipation: A Meta Analysis." Russian Journal of Gastroenterology, Hepatology, Coloproctology 34, no. 3 (2024): 62–77. http://dx.doi.org/10.22416/1382-4376-2024-34-3-62-77.

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Introduction. Genetic predisposition in combination with environmental factors and the patient’s psychological and emotional state play a key role in the development of irritable bowel syndrome (IBS). Studies of association between genetic polymorphisms and IBS can help in understanding the key pathophysiological mechanisms. To date, 11 meta-analyses on this issue have been published, however, none of them comprehensively summarize the data on the prevalence of genetic polymorphisms in IBS with predominant constipation (IBS-C).Aim: to summarize the published data on the impact of genetic polym

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Somberg, John C. "Genetic Polymorphisms." American Journal of Therapeutics 9, no. 4 (2002): 271. http://dx.doi.org/10.1097/00045391-200207000-00001.

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Muiño, Elena, Jurek Krupinski, Caty Carrera, Cristina Gallego-Fabrega, Joan Montaner, and Israel Fernández-Cadenas. "An Inflammatory Polymorphisms Risk Scoring System for the Differentiation of Ischemic Stroke Subtypes." Mediators of Inflammation 2015 (2015): 1–7. http://dx.doi.org/10.1155/2015/569714.

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Inflammation has been associated with atherothrombotic stroke and recently with cardioembolic stroke. Different genetic risk factors have been specifically associated with the subtypes of ischemic stroke (cardioembolic, atherothrombotic, and lacunar). However, there are no studies that have generated genetic risk scores for the different subtypes of ischemic stroke using polymorphisms associated with inflammation.Methods.We have analyzed 68 polymorphisms of 30 inflammatory mediator genes in 2,685 subjects: 1,987 stroke cases and 698 controls. We generated a genetic scoring system with the most

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Ataniyazov, Xurshid, Xurshid Fozilov Фозилов, Gulnoz Xamidullayeva, and G. Abdullaeva. "Orol dengizi mintaqasidagi arterial gipertenziyaning molekulyar-genetik xususiyatlari." CARDIOLOGY OF UZBEKISTAN 1, no. 3 (2025): 152–59. https://doi.org/10.70626/3060-4850-2024-1-3-152-159.

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Background. Arterial hypertension (AH) is a complex, multifactorial disease that significantly contributes to cardiovascular diseases. It is particularly prevalent in the Aral Sea region, where both genetic and environmental factors play a crucial role. This study focuses on the molecular-genetic characteristics of AH in the population of this region. Materials and methods. The study was conducted on 1020 patients aged 40-70 years, diagnosed with AH at the Ellikkala District Medical Association in the Republic of Karakalpakstan. Genetic analysis was performed on 407 AH patients to identify pol

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Makowska-Kaczmarska, Marzena, Anna Okoń, and Elżbieta Olszewska. "Role of polymorphism of the interleukin-1B gene and other genetic polymorphisms in the aetiology of root resorption in patients receiving orthodontic treatment." Forum Ortodontyczne 13, no. 1 (2017): 36–42. http://dx.doi.org/10.5604/01.3001.0010.2604.

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Aim. The aim of the work was to present the latest directions in the research on gene polymorphisms in the global population and to discuss their potential role in the pathogenesis of root resorption during orthodontic treatment. Material and methods. A review of the literature in Polish and English from the years 1990–2015 was conducted using PubMed/MEDLINE databases and the results of studies kept in the database of the National Centre for Biotechnology Information were used. Key words used: genetics of root resorption, genetic polymorphism, interleukin-1B. Results. 19 articles were analysed

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Kasyanov, E. D., T. V. Zhilyaeva, and G. E. Maso. "Association of affective disorders and MTHFR, MTR, and MTRR gene polymorphisms: preliminary results of a family study." Neurology, Neuropsychiatry, Psychosomatics 14, no. 5 (2022): 13–21. http://dx.doi.org/10.14412/2074-2711-2022-5-13-21.

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Genetic polymorphisms associated with impaired one-carbon metabolism (1-CM) can be a risk factor not only for somatic and neurological diseases, but also for affective disorders (AD).Objective: to compare the frequency of genetic polymorphisms MTHFR, MTR, MTRR associated with 1-CM disorders among patients with AD, their blood relatives and healthy individuals.Patients and methods. This cross-sectional study of the frequency of genetic polymorphisms (MTHFR, MTR, MTRR) associated with 1-CM included patients with AD (n=24), their blood relatives (n=40), as well as a group of healthy individuals (

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Teses / dissertações sobre o assunto "Genetic polymorphisms"

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Karlsson, Sten. "Dynamics of genetic polymorphisms." Doctoral thesis, Norwegian University of Science and Technology, Department of Biology, 2005. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-1992.

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Howell, Bruce F. "The Use of Genetic Polymorphisms and Discriminant Analysis in Evaluating Genetic Polymorphisms as a Predictor of Population." Thesis, University of North Texas, 2002. https://digital.library.unt.edu/ark:/67531/metadc3138/.

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Discriminant analysis is a procedure for identifying the relationships between qualitative criterion variables and quantitative predictor variables. Data bases of genetic polymorphisms are currently available that group such polymorphisms by ethnic origin or nationality. Such information could be useful to entities that base financial determinations upon predictions of disease or to medical researchers who wish to target prevention and treatment to population groups. While the use of genetic information to make such determinations is unlawful in states and confidentiality and privacy concerns

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黎子韻 and Tsz-wan Kristi Lai. "Genetic polymorphisms in ovarian cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B31970618.

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Lai, Tsz-wan Kristi. "Genetic polymorphisms in ovarian cancer." Hong Kong : University of Hong Kong, 2002. http://sunzi.lib.hku.hk/hkuto/record.jsp?B25176493.

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Wasfi, Yasmine S. "Apoptosis-related genetic polymorphisms in sarcoidosis /." Connect to full text via ProQuest. IP filtered, 2005.

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Marsh, Howard Piers. "Genetic polymorphisms in bladder cancer angiogenesis." Thesis, University of Bristol, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.428513.

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Loh, Yong-Hwee Eddie. "Genetic variation in fast-evolving East African cichlid fishes: an evolutionary perspective." Diss., Georgia Institute of Technology, 2011. http://hdl.handle.net/1853/41148.

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Cichlid fishes from the East African Rift lakes Victoria, Tanganyika and Malawi represent a preeminent example of replicated and rapid evolutionary radiation. In this single natural system, numerous morphological (eg. jaw and tooth shape, color patterns, visual sensitivity), behavioral (eg. bower-building) and physiological (eg. development, neural patterning) phenotypes have emerged, much akin to a mutagenic screen. This dissertation encompasses three studies that seek to decipher the underpinnings of such rapid evolutionary diversification, investigated via the genetic variation in East Afri

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Lanchbury, J. S. S. "Studies of genetic polymorphisms in human populations." Thesis, University of Newcastle Upon Tyne, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.371918.

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Hennig, Branwen Johanna Wanda. "Genetic polymorphisms and early-onset periodontal diseases." Thesis, University of Newcastle Upon Tyne, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311107.

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Wang, Wei. "Plasminogen polymorphism in dairy cattle." Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=26174.

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A genetic approach to lowering protease (plasmin) levels in milk, requires the presence of polymorphism of bovine plasminogen. This study was conducted to determine to what extent genetic polymorphism exists in dairy cattle. Bovine plasminogen was first purified from Holstein cow plasma by affinity chromatography on Lysine-Sepharose and antibodies to bovine plasminogen were raised by monthly intramuscular injection of the isolated bovine plasminogen into rabbits. For plasminogen phenotyping, blood samples were collected at random from 50 Holstein and Ayrshire cattle, and plasminogen was isolat

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Livros sobre o assunto "Genetic polymorphisms"

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1953-, Cronin M. T., and Miller Mark Steven 1956-, eds. Genetic polymorphisms and susceptibility to disease. Taylor & Francis, 2000.

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D, Varfolomeyev S., and Zaikov Gennadiĭ Efremovich, eds. Molecular polymorphism of man: Structural and functional individual multiformity of biomacromolecules. Nova Science Publishers, 2009.

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D, Varfolomeyev S., and Zaikov Gennadiĭ Efremovich, eds. Molecular polymorphism of man: Structural and functional individual multiformity of biomacromolecules. Nova Science Publishers, 2009.

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4

Ueland, Per Magne, and Rima Rozen. MTHFR polymorphisms and disease. Landes Bioscience, 2005.

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May-Jean, King, ed. Human blood cells: Consequences of genetic polymorphisms and variations. Imperial College Press, 2000.

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Paolo, Vineis, and International Agency for Research on Cancer., eds. Metabolic polymorphisms and susceptibility to cancer. International Agency for Research on Cancer, 1999.

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Magne, Ueland Per, and Rozen Rima, eds. MTHFR polymorphisms and disease. Landes Bioscience/ Eurekah.com, 2005.

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Endre, Czeizel, Benkmann Heide-G. 1942-, and Goedde H. W, eds. Genetics of the Hungarian population: Ethnic aspects, genetic markers, ecogenetics, and disease spectrum. Springer Verlag, 1991.

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NATO Advanced Research Workshop on DNA Polymorphisms as Disease Markers (1990 London, England). DNA polymorphisms as disease markers. Plenum Press, 1991.

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Korochkin, L. I. (Leonid Ivanovich), ed. Polimorfizm belkov i ego znachenie v genetike i selekt͡sii. "Nauka", 1985.

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Capítulos de livros sobre o assunto "Genetic polymorphisms"

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Anagnostopoulou, Katherine, and Genovefa Kolovou. "Genetic Polymorphisms." In Introduction to Translational Cardiovascular Research. Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-08798-6_7.

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Galik, Elizabeth, Shin Fukudo, Yukari Tanaka, et al. "Genetic Polymorphisms." In Encyclopedia of Behavioral Medicine. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1005-9_694.

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Brahmachari, Vani, and Shruti Jain. "Genetic Polymorphisms." In Encyclopedia of Systems Biology. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-9863-7_867.

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Varela, Nelson M., Leslie C. Cerpa, Matías M. Martínez, and Luis A. Quiñones. "Pharmacogenomics: Genetic Polymorphisms." In The ADME Encyclopedia. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-84860-6_125.

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Varela, Nelson M., Leslie C. Cerpa, Matías M. Martínez, and Luis A. Quiñones. "Pharmacogenomics: Genetic Polymorphisms." In The ADME Encyclopedia. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-51519-5_125-1.

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Qidwai, Tabish. "iNOS Genetic Polymorphisms." In Exploration of Host Genetic Factors associated with Malaria. Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-33-4761-8_9.

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Qidwai, Tabish. "TNF Genetic Polymorphisms." In Exploration of Host Genetic Factors associated with Malaria. Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-33-4761-8_8.

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Aga, Syed Sameer, Mujeeb Zafar Banday, Saniya Nissar, et al. "Vitamin D Receptor Polymorphisms and Diseases." In Genetic Polymorphism and Disease. CRC Press, 2022. http://dx.doi.org/10.1201/9781003246244-7.

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Motulsky, Arno G. "Genetic Approaches to Common Diseases." In DNA Polymorphisms as Disease Markers. Springer US, 1991. http://dx.doi.org/10.1007/978-1-4615-3690-1_1.

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Hettiarachchi, Gaya, and Anton A. Komar. "GWAS to Identify SNPs Associated with Common Diseases and Individual Risk: Genome Wide Association Studies (GWAS) to Identify SNPs Associated with Common Diseases and Individual Risk." In Single Nucleotide Polymorphisms. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-031-05616-1_4.

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AbstractAssociation studies have enabled the exploration of alternative, more efficient methods for early detection, prevention and treatment of diseases by providing valuable insight into their genetic foundation. Genome wide association studies (GWASs) have been particularly informative with respect to complex diseases whose manifestation depends on a multitude of genetic and environmental factors. In these studies, common Single Nucleotide Polymorphisms (SNPs) are used to locate and identify regions of the genome that may be causative of common complex diseases. These studies have uncovered

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Trabalhos de conferências sobre o assunto "Genetic polymorphisms"

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Javorka, Michal, Lenka Matuskova, Barbora Czippelova, Jana Cernanova Krohova, Zuzana Turianikova, and Zuzana Kolková. "Genetic polymorphisms of several proteins involved in signal transduction are associated with cardiovascular control." In 2024 13th Conference of the European Study Group on Cardiovascular Oscillations (ESGCO). IEEE, 2024. http://dx.doi.org/10.1109/esgco63003.2024.10767066.

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Ergashevna, Abidova, Muhamedova Gafurjanovna, and Mullabayeva Uchkunona. "Genetic Aspects of Arterial Hypertension: How Gene Polymorphisms Determine the Risk of Developing Hypertension." In The International Conference on Humanities Education, Law, and Social Science. SCITEPRESS - Science and Technology Publications, 2024. https://doi.org/10.5220/0013424600004654.

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Rezende, Rubens Barbosa, and Larissa Teodoro. "Presence of genetic polymorphisms may impact on predisposition to Parkinson’s disease." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.004.

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Introduction: Parkinson’s disease (PD) is characterized by the degeneration and loss of dopaminergic neurons in the black substantia and the formation of Lewy bodies, thus being considered a neurodegenerative disease. Thus, the objective was to understand the impact of polymorphisms in the predisposition to PD. Methods: It’s a narrative review of literature in the PubMed and SciELO databases, using the descriptors: “Polymorphism, Single Nucleotide” and “Parkinson disease”, registered in DeCS/MeSH, and using the Boolean operator AND. The inclusion criteria were: complete articles and made avail

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Kuzmina, L. P., A. G. Khotuleva, and M. M. Kolyaskina. "GENETIC POLYMORPHISM OF CYTOKINES FOR OCCUPATIONAL BRONCHO OBSTRUCTIVE DISEASES DEVELOPMENT RISK AND PROGNOSIS ASSESSMENT." In The 17th «OCCUPATION and HEALTH» Russian National Congress with International Participation (OHRNC-2023). FSBSI «IRIOH», 2023. http://dx.doi.org/10.31089/978-5-6042929-1-4-2023-1-265-268.

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One of the significant systems in the pathogenesis of lung diseases is the system of cytokines. Genetic polymorphism of cytokines can be associated with different levels of cytokine production when exposed to a stimulus of the same intensity in response to antigenic irritation, or tissue damage, which can determine individual sensitivity to chemicals. The purpose of this study was to evaluate the presence of associations of single nucleotide polymorphisms of cytokine genes with the development and severity of occupational bronchoobstructive diseases, taking into account the specifics of occupa

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Khammadov, N. I., A. I. Khamidullina, K. V. Usoltsev, and T. Kh Faizov. "GENETIC POLYMORPHISMS OF FOOT AND MOUTH DISEASE VIRUS." In Molecular Diagnostics and Biosafety. Federal Budget Institute of Science 'Central Research Institute for Epidemiology', 2020. http://dx.doi.org/10.36233/978-5-9900432-9-9-247.

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Urbano, D., E. Puerta, M. Cañadas, A. Perez, L. Gutierrez, and MA Calleja. "PKP-004 Genetic polymorphisms associated with colorectal cancer risk." In 22nd EAHP Congress 22–24 March 2017 Cannes, France. British Medical Journal Publishing Group, 2017. http://dx.doi.org/10.1136/ejhpharm-2017-000640.432.

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Padukudru Anand, Mahesh, Sangeetha Visweshwaraiah, Ramachandra Nallur, Jayaraj Biligere, Chaya Sindaghatta, and Amrutha Holla. "Association between genetic polymorphisms ofADAM33with asthma and its phenotypes." In Annual Congress 2015. European Respiratory Society, 2015. http://dx.doi.org/10.1183/13993003.congress-2015.pa1230.

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Casañas-Sánchez, V., R. Ramos-Díaz, S. García Gil, et al. "PKP-005 Determination of genetic polymorphisms affecting metabolism of thiopurines." In 22nd EAHP Congress 22–24 March 2017 Cannes, France. British Medical Journal Publishing Group, 2017. http://dx.doi.org/10.1136/ejhpharm-2017-000640.433.

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Deng, Xinqing, Martha J. Shrubsole, Reid M. Ness, et al. "Abstract 2859: Genetic polymorphisms in thePTHandPTHR1genes and colorectal adenoma risk." 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.am10-2859.

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Chamizo, E., E. González, C. Carrasco, et al. "SAT0693 Genetic polymorphisms and efficacy of metothrexate in rheumatoid arthritis." In Annual European Congress of Rheumatology, EULAR 2018, Amsterdam, 13–16 June 2018. BMJ Publishing Group Ltd and European League Against Rheumatism, 2018. http://dx.doi.org/10.1136/annrheumdis-2018-eular.3047.

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Relatórios de organizações sobre o assunto "Genetic polymorphisms"

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Raftogianis, Rebecca B. UGT1A9 Genetic Polymorphisms and Raloxifene Pharmacogenetics. Defense Technical Information Center, 2002. http://dx.doi.org/10.21236/ada405339.

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Raftogianis, Rebecca B. UGT1A9 Genetic Polymorphisms and Raloxifene Pharmacogenetics. Defense Technical Information Center, 2003. http://dx.doi.org/10.21236/ada416490.

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Bhaskar Kalarani, Iyshwarya, and Ramakrishnan Veerabathiran. Study of genetic polymorphisms in autism spectrum disorder. Peeref, 2022. http://dx.doi.org/10.54985/peeref.2210p6305148.

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Adams-Campbell, Lucile L. Diet, Genetic Polymorphisms and Breast Cancer in African-Americans. Defense Technical Information Center, 2001. http://dx.doi.org/10.21236/ada398502.

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Adams-Campbell, Lucille L. Diet Genetic Polymorphisms and Breast Cancer in African-Americans. Defense Technical Information Center, 2002. http://dx.doi.org/10.21236/ada416961.

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Beckmann, Jacques, Benjamin Burr, and Moshe (Morris) Soller. Restriction Fragment Length Polymorphisms in Varietal Identification and Genetic Improvement. United States Department of Agriculture, 1986. http://dx.doi.org/10.32747/1986.7598901.bard.

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Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu, and George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, 2015. http://dx.doi.org/10.32747/2015.7600017.bard.

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The project’s general objectives were to determine specific polymorphisms at the DNA level responsible for observed quantitative trait loci (QTLs) and to estimate their effects, frequencies, and selection potential in the Holstein dairy cattle breed. The specific objectives were to (1) localize the causative polymorphisms to small chromosomal segments based on analysis of 52 U.S. Holstein bulls each with at least 100 sons with high-reliability genetic evaluations using the a posteriori granddaughter design; (2) sequence the complete genomes of at least 40 of those bulls to 20 coverage; (3) de

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Salinas, Claudia A. Genetic Polymorphisms in Genes Involved in Inflammation and Prostate Cancer Risk. Defense Technical Information Center, 2008. http://dx.doi.org/10.21236/ada484491.

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Larcom, Barbara, Rosemarie Ramos, Lisa Lott, et al. Genetic Risk Conferred from Single Nucleotide Polymorphisms Towards Type II Diabetes Mellitus. Defense Technical Information Center, 2013. http://dx.doi.org/10.21236/ada573655.

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Ozcelik, Hilmi, and Julia A. Knight. Microarray Technology to Study the Role of Genetic Polymorphisms in Breast Cancer Risk. Defense Technical Information Center, 2002. http://dx.doi.org/10.21236/ada406970.

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