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Literatura académica sobre el tema "Polymorphisms"

Autor: Grafiati

Publicado: 4 de junio de 2021

Última modificación: 14 de marzo de 2023

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Artículos de revistas sobre el tema "Polymorphisms"

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SCHMIDT, KLAUS y ANATOLY VERSHIK. "Algebraic polymorphisms". Ergodic Theory and Dynamical Systems 28, n.º 2 (abril de 2008): 633–42. http://dx.doi.org/10.1017/s0143385707001022.

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AbstractIn this paper we consider a special class of polymorphisms with invariant measure, the algebraic polymorphisms of compact groups. A general polymorphism is—by definition—a many-valued map with invariant measure, and the conjugate operator of a polymorphism is a Markov operator (i.e. a positive operator on L2 of norm 1 which preserves the constants). In the algebraic case a polymorphism is a correspondence in the sense of algebraic geometry, but here we investigate it from a dynamical point of view. The most important examples are the algebraic polymorphisms of a torus, where we introduce a parametrization of the semigroup of toral polymorphisms in terms of rational matrices and describe the spectra of the corresponding Markov operators. A toral polymorphism is an automorphism of $\mathbb {T}^m$ if and only if the associated rational matrix lies in $\mathrm {GL}(m,\mathbb {Z})$. We characterize toral polymorphisms which are factors of toral automorphisms.

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Horst-Sikorska, Wanda, Magdalena Ignaszak-Szczepaniak, Michalina Marcinkowska, Marta Kaczmarek, Malgorzata Stajgis y Ryszard Slomski. "Association analysis of vitamin D receptor gene polymorphisms with bone mineral density in young women with Graves' disease." Acta Biochimica Polonica 55, n.º 2 (26 de mayo de 2008): 371–80. http://dx.doi.org/10.18388/abp.2008_3085.

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Graves' (GD) hyperthyroidism induces accelerated bone turnover that leads to decreased bone mineral density (BMD). The role of the VDR gene in predisposition to primary osteoporosis has been recognized. Recent studies show associations between the VDR gene polymorphisms and susceptibility to autoimmune diseases. Here we analyzed if VDR gene polymorphisms: BsmI, ApaI, TaqI, and FokI may predispose women with Graves' hyperthyroidism to BMD reduction or to disease development. The subjects were 75 premenopausal female Polish patients with GD and 163 healthy women. The genotyping was performed by the use of the restriction fragment length polymorphism analysis (RFLP). We studied the association of the VDR polymorphisms and their haplotypes with patients' BMD and also SNPs and haplotypes association with Graves' disease. We found a strong linkage disequilibrium for the BsmI, ApaI, and TaqI polymorphims that formed three most frequent haplotypes in Graves' women: baT (47.9%), BAt (34.9%), and bAT (16.4%). We did not show statistically significant association of analyzed VDR polymorphisms or haplotypes with decreased bone mineral density in Graves' patients. However, the presence of F allele had a weak tendency to be associated with Graves' disease (with OR=1.93; 95% CI: 0.97-3.84; p=0.058). VDR gene polymorphisms do not predict the risk of decreased BMD in Polish women with Graves'. It may be speculated that the F allele carriers of the VDR-FokI polymorphism are predisposed to Graves' disease development.

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Ventriglio, A., A. Petito, A. Gentile, G. Vitrani, I. Bonfitto, A. C. Cecere, A. Rinaldi et al. "Pharmacodynamic targets of psychotic patients treated with a long-acting therapy". European Psychiatry 41, S1 (abril de 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, paliperidone palmitate, risperidon and aripiprazole), were examined. We carried out a blood sampling to evaluate dopaminergic DRD2 and glutamatergic GRM3 genetic receptors polymorphisms. PANSS and BPRS scales were used to assess clinical condition.ResultsRegarding the GRM3 genes, the study of rs2228595 and rs6465084 polymorphisms showed a prevalence of wild type genotypic frequency of 81.2% and 56.2%, respectively. The prevalence of the patients with mutated heterozygote genotype (rs6465084 polymorphisms) resulted high (40.6%). Considering rs1989796 e rs274622 polymorphisms, the sample showed a prevalence of mutated heterozygote genotype in the 53.1% e 45.3%, respectively, with a percentage of 43.7% of patients with a mutation in homozygosis. Considering the rs146812 polymorphism, the 53.1% of patients resulted with a wild type genotype. Finally, findings showed a prevalence of 56.2% for the mutated heterozygote genotype in the DRD2 rs6277 polymorphism. The genotypic categorization analysis demonstrated a significative association between the GRM3 rs274622 polymorphism and higher BPRS scores.ConclusionsThe relationship between rs274622 polymorphism and worse clinical conditions could indicate a major resistance to long-acting antipsychotics in patients with genotypic frequency CT (mutated heterozygosis) for this polymorphism.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Fitriyani, Hilda, Delyuzar y Hidayat. "Identification of CYP1A1 Gene Polymorphism in Squamous Cell Carcinoma and Cervical Adenocarcinoma". Majalah Patologi Indonesia 29, n.º 2 (1 de mayo de 2020): 65–70. http://dx.doi.org/10.55816/mpi.v29i2.410.

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BackgroundCervical cancer is the third most common cancer in women with risk factor of smoking, high parity, long term use of oralcontaception that are associated with chemical carcinogenesis. Chemical carcinogenesis require biotransfor-mation of lipophilicsubstrates to hydrophilic metabolites, therefore facilitating their secretion from the human body. Cytochrome P450 (CYP) is one ofgenes that have important role in this process. Benzo[α]pyrene and estrogen have a common biotransformation process which ismetabolized by CYP, particularly CYP1A1. The objectives to identify the frequency and distribution of CYP1A1 gene polymorphismin squamous cell carcinoma and adenocarcinoma of the cervix.MethodsThis is an analytical descriptive study with cross sectional approach. CYP1A1 gene polymorphism (3801T/C or Ile462Val) wasanalyzed using PCR-RFLP method followed by gel electrophoresis.ResultsCYP1A1 gene polymorphisms (3801TC) in squamous cell carcinoma were 50% heterozygote T/C, 36% wild-types T/T and 14%homozygote C/C. CYP1A1 gene polymorphisms (3801TC) in adenocarcinoma were 60% heterozygote T/C and 40% wild-types T/T.CYP1A1 gene polymorphisms (Ile462Val) in squamous cell carcinoma were 97.2% heterozygote Ile/Val, and 2.8% homozygoteVal/Val. CYP1A1 gene polymorphisms (Ile462Val) in adenocarcinoma were 100% heterozygote Ile/ValConclusionThe most common type of CYP1A1 gene polymorphism (3801TC and Ile462Val) in squamous cell carcinoma and adenocarcinomaof the cervix were heterozygote.

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Kulig, Hanna, Marek Kmieć y Katarzyna Wojdak-Maksymiec. "Associations between Leptin Gene Polymorphisms and Somatic Cell Count in Milk of Jersey Cows". Acta Veterinaria Brno 79, n.º 2 (2010): 237–42. http://dx.doi.org/10.2754/avb201079020237.

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A total of 181 Jersey cows were used to investigate how leptin gene polymorphisms affect somatic cell count (SCC) in milk. Three single nucleotide polymorphisms were genotyped, namely the R4C polymorphism in exon 2, the Sau3AI polymorphism in intron 2 and the A59V polymorphism in exon 3. The genotype and allele frequencies for each polymorphism and the haplotype frequencies for all polymorphisms were estimated in the herd under study. Statistical analysis revealed that the R4C and Sau3AI polymorphisms significantly affected SCC (P &#x2AAC 0.01) with C and T as a desirable allele, respectively. No associations were found between the A59V polymorphism and SCC in this study. However, all the genotype combinations (haplotypes) significantly affected this trait. The results indicate that selection for the R4C CC and Sau3AI TT animals might contribute to a reduction of SCC in Jersey cattle.

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Laine, Marja L., Bruno G. Loos y W. Crielaard. "Gene Polymorphisms in Chronic Periodontitis". International Journal of Dentistry 2010 (2010): 1–22. http://dx.doi.org/10.1155/2010/324719.

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We aimed to conduct a review of the literature for gene polymorphisms associated with chronic periodontitis (CP) susceptibility. A comprehensive search of the literature in English was performed using the keywords: periodontitis, periodontal disease, combined with the words genes, mutation, or polymorphism. Candidate gene polymorphism studies with a case-control design and reported genotype frequencies in CP patients were searched and reviewed. There is growing evidence that polymorphisms in theIL1, IL6, IL10, vitamin D receptor, andCD14genes may be associated with CP in certain populations. However, carriage rates of the rare -allele of any polymorphism varied considerably among studies and most of the studies appeared under-powered and did not correct for other risk factors. Larger cohorts, well-defined phenotypes, control for other risk factors, and analysis of multiple genes and polymorphisms within the same pathway are needed to get a more comprehensive insight into the contribution of gene polymorphisms in CP.

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Turgal, Mert, Fatma Gumruk, Ergun Karaagaoglu y Mehmet Beksac. "Methylenetetrahydrofolate Reductase Polymorphisms and Pregnancy Outcome". Geburtshilfe und Frauenheilkunde 78, n.º 09 (septiembre de 2018): 871–78. http://dx.doi.org/10.1055/a-0664-8237.

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Abstract Introduction Aim of the study was to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on pregnancy outcome. Materials and Methods A total of 617 pregnancies of women who were investigated for MTHFR C677T and A1298C polymorphisms prior to pregnancy were included in the study. Cases were classified into “homozygous polymorphisms” (Group I), “heterozygous polymorphisms” (Group II), and patients without polymorphisms who functioned as controls (Group III). Patients with polymorphisms were assigned to a specific protocol at least 3 months before becoming pregnant. Administration of low molecular weight heparin (LMWH) was started very early during pregnancy. The Beksac Obstetrics Index (BOI) was used to estimate the obstetric risk levels for the different groups. Results We found that the early pregnancy loss (EPL) rate increased as MTHFR polymorphism complexity increased and that the early EPL rate was significantly higher in patients with MTHFR C677T polymorphism compared to patients with MTHFR A1298C polymorphism (p = 0.039). There were significant differences between the previous pregnancies of the patients in the 3 study groups in terms of perinatal complications and EPLs (p = 0.003 and p = 0.019). The BOI decreased as the severity of polymorphisms increased. An association between MTHFR polymorphisms and congenital malformations and chromosomal abnormalities was observed. We could not demonstrate any statistically significant difference between study groups when the 3 groups were compared with regard to the pregnancy outcomes under specific management protocols. Conclusion MTHFR polymorphisms are potential risk factors for adverse pregnancy outcomes.

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Čítek, J., L. Hanusová, M. Brzáková, L. Večerek, L. Panicke y L. Lískovcová. "Associations between gene polymorphisms, breeding values, and glucose tolerance test parameters in German Holstein sires". Czech Journal of Animal Science 63, No. 5 (26 de abril de 2018): 167–73. http://dx.doi.org/10.17221/8/2017-cjas.

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The association between several gene polymorphisms, the estimated breeding values for milk performance traits, and glucose metabolism measured by the glucose tolerance test (GTT) in German Holstein sires were evaluated. Polymorphisms in DGAT1, GH1, GHR, FASN, and OLR1 genes were not associated with the GTT. A significant relationship was obtained for the DGAT1 AA/GC polymorphism and estimated breeding values for milk performance (milk yield, fat and protein yield, fat and protein percentage). The polymorphism in GHR was significantly associated with estimated breeding values for fat yield, and the polymorphism in OLR1 with estimated breeding value for protein yield. It shows the importance of the polymorphisms and makes their use in the breeding possible. GTT may be helpful in metabolic analyses, but the gene polymorphisms assessed in our study were not associated with GTT traits and further studies should examine other gene polymorphisms to support the role of GTT for potential breeding purposes.

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Delluc, Aurélien, Lénaïck Gourhant, Karine Lacut, Bernard Mercier, Marie-Pierre Audrezet, Emmanuel Nowak, Emmanuel Oger et al. "Association of common genetic variations and idiopathic venous thromboembolism". Thrombosis and Haemostasis 103, n.º 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 controls. After Bonferroni adjustment, four single nucleotide polymorphisms (SNPs) were significantly associated with VTE: Factor XI rs925451 polymorphism, factor XI rs2289252 polymorphism, factor II rs1799963 (G20210A) polymorphism and factor V Leiden rs6025. An additive mode of inheritance fitted best both factor XI polymorphisms. In this hospital-based case-control study, two polymorphisms located on the factor XI gene were significantly associated with VTE. Other newly investigated polymorphisms with potentially false negatives may warrant further analyses.

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Taneja, Nancy, Rajesh Khadagawat y Shalini Mani. "BSMI AND TAQI POLYMORPHISMS IN VITAMIN D RECEPTOR GENE OF TYPE 2 DIABETES MELLITUS PATIENTS FROM NORTH INDIA". Asian Journal of Pharmaceutical and Clinical Research 9, n.º 9 (1 de diciembre de 2016): 186. http://dx.doi.org/10.22159/ajpcr.2016.v9s3.14875.

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ABSTRACTObjective: Polymorphisms in vitamin D receptor (VDR) genes are known to be linked with different metabolic diseases including Type 2 diabetesmellitus (T2DM) also. However, the association of these polymorphisms is not much explored for the Indian population. To determine the prevalenceof BsmI and TaqI polymorphism in VDR gene of T2DM patients from North India.Methods: Blood samples were obtained from 100 well-characterized T2DM patients and 100 healthy controls. Genomic DNA was isolated from bloodsamples and using polymerase chain reaction/restriction fragment length polymorphism based method, the presence of these polymorphisms wasinvestigated in these samples. The data were statistically analyzed using SPSS 21.0 software.Results: For TaqI polymorphism, both the wild type (TT) and heterozygous (TC) genotype showed a significant difference between patients andcontrols (p=0.023 and p<0.001, respectively). Whereas, the frequency of CC genotype was not significantly different among these groups (p=0.506).For BsmI polymorphism also, the frequency of wild type (GG) and heterozygous (GA) genotype was significantly different in patients and controls(p=0.027 and p=0.001), respectively. However, the frequency of AA genotype was not of statistical significance in patients (p=0.071).Conclusions: The mutant alleles of TaqI and BsmI polymorphisms are known to be associated with different metabolic diseases, including diabetestoo. In our study also, there is a significant difference between the frequency of wild type and heterozygous genotype for these polymorphisms. Thissuggests that BsmI and TaqI polymorphisms may be associated with T2DM patients.Keywords: Type 2 diabetes mellitus, Polymorphism, Vitamin D receptor, Patient, Control, Restriction fragment length polymorphism.

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Tesis sobre el tema "Polymorphisms"

1

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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Guerra, Sandra. "Gene polymorphisms in SLE". Thesis, King's College London (University of London), 2013. https://kclpure.kcl.ac.uk/portal/en/theses/gene-polymorphisms-in-sle(96ff1bac-bcca-40f1-bfd7-24bc87dc7a25).html.

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Systemic lupus erythematosus (SLE) is an autoimmune disease, with a strong genetic component. It is characterised by hyperactive T and B cells, chronic inflammation and the production of antinuclear autoantibodies. SLE affects mostly women of child baring age, with a 9:1 ratio, women to men and has been reported to be more prevalent in people of non-European ancestry. In the era of genome-wide association studies (GWAS), elucidating the genetic factors present in SLE has been very successful, with over 28 confirmed disease susceptibility loci mapped and a number of candidate genes identified. During this thesis I fine mapped IL18 as it had previously been reported to be associated with SLE, SNP rs360719. After fine mapping and subphenotype analysis in UK and African American cohorts, I was unable to replicate the published association. Although genetic data did not confirm IL18 to be associated with SLE, I demonstrated increased IL-18 serum levels in SLE renal patients compared to SLE patients. I further analysed IL10, another previously associated SLE candidate loci in our current SLE GWAS cohort (4000 cases and 9000 controls) of European ancestry. I again was unable to replicate the previous association, however using other SLE GWAS data showed SNP rs3024505 to be associated in Northern European samples. Further analysing our SLE GWAS, I located IKZF3 as a candidate loci. I identified an associated block of 56 SNPS and located the association to a single SNP rs2941509, p=1.46xlQ-8. Furthermore, I demonstrated an allelic imbalance in this SNP, with the protective G allele being expressed 1.5 times greater than the risk A allele, in controls. These data here demonstrated in this thesis indicates the importance of fine mapping candidate loci and verification of previously associated loci. This thesis contributes to the current knowledge of SLE by demonstrating discrepancies in published association data and showing the importance of larger studies.

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Ho, Timothy Boon Leong. "Pathogen polymorphisms of mycobacterium tuberculosis". Thesis, Imperial College London, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.399538.

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Zghebeh, Helena. "Cytokine polymorphisms in pre-eclampsia". Thesis, University of Leeds, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.511158.

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黎子韻 y 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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Tyrer, Jonathan Patrick. "Patterns and networks of polymorphisms". Thesis, University of Sheffield, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.307109.

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Barroso, Joana Barbara de Bessa. ""Obesity and inflammation: associated polymorphisms"". Master's thesis, Faculdade de Medicina da Universidade do Porto, 2008. http://hdl.handle.net/10216/23729.

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Bondarkova, A. M. "ADRB2 polymorphisms and asthma susceptibility". Thesis, Сумський державний університет, 2013. http://essuir.sumdu.edu.ua/handle/123456789/33568.

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Beta-2-Adrenergic receptors (ADRB2) participate in the physiologic responses of the lung, including bronchodilation and bronchoprotection, through mechanisms such as mucociliary clearance, fluid accumulation and mediator release from mast cells and basophils. Thus, these receptors may also play an important role in the pathophysiology of asthma. The gene encoding ADRB2 is extremely polymorphic, and studies of this gene improves our understanding of asthma and possibly lead to new methods to prevent, diagnose and treat it. When you are citing the document, use the following link http://essuir.sumdu.edu.ua/handle/123456789/33568

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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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Barroso, Joana Barbara de Bessa. ""Obesity and inflammation: associated polymorphisms"". Dissertação, Faculdade de Medicina da Universidade do Porto, 2008. http://hdl.handle.net/10216/23729.

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Libros sobre el tema "Polymorphisms"

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Kwok, Pui-Yan. Single Nucleotide Polymorphisms. New Jersey: Humana Press, 2002. http://dx.doi.org/10.1385/1592593275.

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Sauna, Zuben E. y Chava Kimchi-Sarfaty, eds. Single Nucleotide Polymorphisms. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-031-05616-1.

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Komar, Anton A., ed. Single Nucleotide Polymorphisms. Totowa, NJ: Humana Press, 2009. http://dx.doi.org/10.1007/978-1-60327-411-1.

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Hannan, Anthony J., ed. Tandem Repeat Polymorphisms. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-5434-2.

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

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Ueland, Per Magne y Rima Rozen. MTHFR polymorphisms and disease. Georgetown, Tex: Landes Bioscience, 2005.

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

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Single nucleotide polymorphisms: Methods and protocols. 2^a ed. New York: Humana, 2009.

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Galton, D. J. y G. Assmann, eds. DNA Polymorphisms as Disease Markers. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4615-3690-1.

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

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Capítulos de libros sobre el tema "Polymorphisms"

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Anagnostopoulou, Katherine y Genovefa Kolovou. "Genetic Polymorphisms". En Introduction to Translational Cardiovascular Research, 111–28. Cham: 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, Yori Gidron, Tavis S. Campbell, Jillian A. Johnson, Kristin A. Zernicke et al. "Genetic Polymorphisms". En Encyclopedia of Behavioral Medicine, 847. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1005-9_694.

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Siano, Maria, MariaLuisa Vecchione y Gennaro Ilardi. "Gene Polymorphisms". En Prostate Cancer: Shifting from Morphology to Biology, 161–82. Dordrecht: Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-7149-9_9.

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Brahmachari, Vani y Shruti Jain. "Genetic Polymorphisms". En Encyclopedia of Systems Biology, 824. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-9863-7_867.

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Martínez, Matías F., Leslie C. Cerpa, Nelson M. Varela y Luis A. Quiñones. "Pharmacokinetic Polymorphisms". En The ADME Encyclopedia, 899–907. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-84860-6_126.

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Martínez, Matías F., Leslie C. Cerpa, Nelson M. Varela y Luis A. Quiñones. "Pharmacodynamic Polymorphisms". En The ADME Encyclopedia, 853–61. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-84860-6_127.

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Martínez, Matías M., Leslie C. Cerpa, Nelson M. Varela y Luis A. Quiñones. "Pharmacokinetic Polymorphisms". En The ADME Encyclopedia, 1–9. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-51519-5_126-1.

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Brophy, Victoria H., Gail P. Jarvik y Clement E. Furlong. "PON1 Polymorphisms". En Paraoxonase (PON1) in Health and Disease, 53–77. Boston, MA: Springer US, 2002. http://dx.doi.org/10.1007/978-1-4615-1027-7_3.

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Hettiarachchi, Gaya y 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". En Single Nucleotide Polymorphisms, 51–76. Cham: 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 a number of loci of interest for several diseases and have also allowed for the development of genetic counseling with improved individual disease risk assessment. With the more accurate prediction of the probability of disease development, progression and treatment success, GWASs have also brought about the age of personalized medicine. Despite these promising outcomes, skepticism concerning the power of these studies and their impact on patient care exists. This uncertainty stems from the many inherent limitations of this relatively young technique. This chapter explores the underlying concepts of GWASs, their contributions to research, clinical and commercial development, and their limitations with the hopes of providing a better understanding of the impact of these SNP-based association studies can have on public health.

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Peña-Llopis, Samuel. "SNPs and Personalized Medicine: Scrutinizing Pathogenic Synonymous Mutations for Precision Oncology". En Single Nucleotide Polymorphisms, 185–95. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-031-05616-1_9.

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Actas de conferencias sobre el tema "Polymorphisms"

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Rezende, Rubens Barbosa y Larissa Teodoro. "Presence of genetic polymorphisms may impact on predisposition to Parkinson’s disease". En 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 available free of charge, published in English, Spanish and Portuguese, between 2016 and January 2021. Results: After the research, 167 publications were found and seven were included. The data from the first study indicate that the rs33949390 of the LRRK2 gene helps in predisposition to PD in Asian populations, mainly Chinese. The second study indicated that the NFE2L2 rs6721961 allele was linked to a reduced risk of PD. The third study found that the GSK3B rs1732170, STK11 rs8111699, SNCA rs356219 and FCHSD1 rs456998 polymorphisms were linked to a high risk of PD. The fourth study found that the SNCA variants rs7684318, rs356220, rs356203 and rs2736990 were linked to the disease and were at high risk of developing PD in the Mexican population. The fifth and sixth study are meta-analyzes, the fifth confirming the lower allele rs11558538 of HNMT is associated with a reduced risk of developing PD. And the sixth assumes a possible link between CCDC62 rs12817488 and the risk of PD in the Chinese population. Conclusion: However, the analyzed data indicate that the polymorphisms contributed to the susceptibility to PD, however further studies related to the polymorphisms and their relationship to PD are still needed for more ethnic groups, and thus early diagnosis is possible.

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2

Chan, Vivian, V. W. S. Liu, A. C. K. Wong y T. K. Chan. "DNA POLYMORPHISMS IN OR LINKED TO THE FACTOR VIII GENE IN CHINESE". En XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644049.

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78 unrelated X chromosomes from Southern Chinese (56 normal and 22 haemophiliac) were studied. DNA was restricted by Bel I, Bgl I or Taq I and hybridized to 3' factor VIII:C cDNA probe (5 kb, Chiron) or St 14.1 probe(3 kb, Oberle &Mandel) by standard techniques. The intragenic Bel I polymorphic site was positive in 82%, while Bgl I polymorphic site was positive in all. Thus, 29.5%(2 x×0.82 × 0.18) of Chinese females carried the Bel I polymorphism. Asto the Taq I polymorphism in the closely linked DXS52 DNA segment, the incidences for the various alleles were :System I - allele (3) 10.2%, (4) 2.6%, (5) 2.6%,(6) 17.9%, (7) 21.8% and (8) 44.9% System II - α a allele 56%, 6 allele 44%. Approximately 80% of females were heterozygous for two different alleles. Hence the Bel I and Taq I polymorphisms can be used to track the defective factor VIII gene for carrier detection and prenatal diagnosis. Furthermore, their frequencies in the Chinese are different from those previously reported in other ethnic groups.

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3

Gudagunti, Fleming Dackson, Logeeshan Velmanickam, Dharmakeerthi Nawarathna y Ivan T. Lima. "Detection of Nucleotide Polymorphisms using Dielectrophoresis". En 2019 IEEE Research and Applications of Photonics in Defense Conference (RAPID). IEEE, 2019. http://dx.doi.org/10.1109/rapid.2019.8864400.

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Maritska, Zieske, Miranti Dwi Hartanti, Benediktus Wicaksono Widodo, Fitri, Bintang Arroyantri Prananjaya, Irsan Saleh y Nita Parisa. "DRD2 Gene Polymorphisms in Schizophrenia Patients". En 1’s t Jenderal Soedirman International Medical Conference (JIMC) in conjunction with the Annual Scientific Meeting (Temilnas) Consortium of Biomedical Science Indonesia (KIBI ). SCITEPRESS - Science and Technology Publications, 2020. http://dx.doi.org/10.5220/0010489101390142.

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Pabst, S., TF Wienker, MM Noethen y C. Grohe. "CD4 Gene Polymorphisms Are Associated with Sarcoidosis." En American Thoracic Society 2009 International Conference, May 15-20, 2009 • San Diego, California. American Thoracic Society, 2009. http://dx.doi.org/10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a5411.

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Kotova, Olesya, Dina Gassan, Denis Naumov y Juliy Perelman. "Effect of TRPA1 polymorphisms on asthma development". En ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.pa2345.

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Panzenboeck, Adelheid, Roela Sadushi-Kolici, Nika Skoro-Sajer, Diana Bonderman, Christine Mannhalter y Irene Lang. "VKORC1 Polymorphisms And Chronic Thromboembolic Pulmonary Hypertension". En American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a1954.

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Wan, Emily S., Michael H. Cho, Nadia Boutaoui, Barbara J. Klanderman, Jody S. Sylvia, John P. Ziniti, Augusto A. Litonjua et al. "Mitochondrial DNA Polymorphisms Are Associated With COPD". En American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a2921.

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Khammadov, N. I., A. I. Khamidullina, K. V. Usoltsev y T. Kh Faizov. "GENETIC POLYMORPHISMS OF FOOT AND MOUTH DISEASE VIRUS". En 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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Karimi, Leila, Lies Lahousse, Bruno H. C. Stricker, Johan Van Der Lei, Katia M. Verhamme y Guy G. Brusselle. "ß2-adrenergic receptor polymorphisms and risk of COPD". En ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa1270.

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Informes sobre el tema "Polymorphisms"

1

Zou, Chenghui, Weng Zhang, Mao Li, Dan He, Yujie Han y Mao Lu. A meta-analysis of association between CCL5、CCL11、CCL17 polymorphisms and AD. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, noviembre de 2022. http://dx.doi.org/10.37766/inplasy2022.11.0148.

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Review question / Objective: At present, many studies on the association between CCL5、CCL11、CCL17 polymorphisms and atopic dermatitis（AD）are inconsistent. We conducted this meta-analysis of Case control trial to evaluate the association between CCL5、CCL11、CCL17 polymorphisms and atopic dermatitis（AD). Condition being studied: Since the discovery of cytokines, and in particular the role of chemokines in the progression of AD, many clinical studies have been carried out around the world to explore the association of AD with chemokine polymorphism. However, the quality, type and conclusions of studies on the correlation between chemokine polymorphism and AD are inconsistent. Foreign studies have shown that chemokine polymorphism is statistically significant in relation to AD. Studies by Menzies-Gow A et al have shown that a new therapeutic strategy targeting to block CCL11 signal has been proven to significantly improve patients with moderate to severe AD. However, some foreign studies have also reported that chemokine polymorphism is unrelated to AD.

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Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu y George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, enero de 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) determine causative polymorphisms based on concordance between the bulls’ genotypes for specific polymorphisms and their status for a QTL; (4) validate putative quantitative trait variants by genotyping a sample of Israeli Holstein cows; and (5) perform gene expression analysis using statistical methodologies, including determination of signatures of selection, based on somatic cells of cows that are homozygous for contrasting quantitative trait variants; and (6) analyze genes with putative quantitative trait variants using data mining techniques. Current methods for genomic evaluation are based on population-wide linkage disequilibrium between markers and actual alleles that affect traits of interest. Those methods have approximately doubled the rate of genetic gain for most traits in the U.S. Holstein population. With determination of causative polymorphisms, increasing the accuracy of genomic evaluations should be possible by including those genotypes as fixed effects in the analysis models. Determination of causative polymorphisms should also yield useful information on gene function and genetic architecture of complex traits. Concordance between QTL genotype as determined by the a posteriori granddaughter design and marker genotype was determined for 30 trait-by-chromosomal segment effects that are segregating in the U.S. Holstein population; a probability of <10²⁰ was used to accept the null hypothesis that no segregating gene within the chromosomal segment was affecting the trait. Genotypes for 83 grandsires and 17,217 sons were determined by either complete sequence or imputation for 3,148,506 polymorphisms across the entire genome. Variant sites were identified from previous studies (such as the 1000 Bull Genomes Project) and from DNA sequencing of bulls unique to this project, which is one of the largest marker variant surveys conducted for the Holstein breed of cattle. Effects for stature on chromosome 11, daughter pregnancy rate on chromosome 18, and protein percentage on chromosome 20 met 3 criteria: (1) complete or nearly complete concordance, (2) nominal significance of the polymorphism effect after correction for all other polymorphisms, and (3) marker coefficient of determination >40% of total multiple-regression coefficient of determination for the 30 polymorphisms with highest concordance. The missense polymorphism Phe279Tyr in GHR at 31,909,478 base pairs on chromosome 20 was confirmed as the causative mutation for fat and protein concentration. For effect on fat percentage, 12 additional missensepolymorphisms on chromosome 14 were found that had nearly complete concordance with the suggested causative polymorphism (missense mutation Ala232Glu in DGAT1). The markers used in routine U.S. genomic evaluations were increased from 60,000 to 80,000 by adding markers for known QTLs and markers detected in BARD and other research projects. Objectives 1 and 2 were completely accomplished, and objective 3 was partially accomplished. Because no new clear-cut causative polymorphisms were discovered, objectives 4 through 6 were not completed.

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

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

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Ma, Long, Gang Jin, Yi Yang, Yao Pang, Wenhao Wang, Hongyi Zhang, Jiawei Liu et al. Association Between CYP2A13 Polymorphisms and Lung Cancer. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, septiembre de 2020. http://dx.doi.org/10.37766/inplasy2020.9.0102.

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Adami, Hans-Olov G. y Landegran. Estrogen Receptor Gene Polymorphisms and Breast Cancer Risk. Fort Belvoir, VA: Defense Technical Information Center, diciembre de 2000. http://dx.doi.org/10.21236/ada392392.

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Adami, Habs-Olov G. y Landegran. Estrogen Receptor Gene Polymorphisms and Breast Cancer Risk. Fort Belvoir, VA: Defense Technical Information Center, diciembre de 1999. http://dx.doi.org/10.21236/ada383021.

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Bhaskar Kalarani, Iyshwarya y Ramakrishnan Veerabathiran. Study of genetic polymorphisms in autism spectrum disorder. Peeref, octubre de 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. Fort Belvoir, VA: Defense Technical Information Center, octubre de 2001. http://dx.doi.org/10.21236/ada398502.

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Cleveland, Rebecca J., Marilie D. Gammon y Ralph S. Baric. Insulin-Like Growth Factor I Polymorphisms in Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, septiembre de 2002. http://dx.doi.org/10.21236/ada412654.

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