Littérature scientifique sur le sujet « Ms polymorphism »
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Articles de revues sur le sujet "Ms polymorphism"
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Cakina, Suat, Ozgul Ocak, Adile Ozkan, Selma Yucel et Handan Isin Ozisik Karaman. « Vitamin D receptor gene polymorphisms in multiple sclerosis disease : A case-control study ». Revista Romana de Medicina de Laborator 26, no 4 (1 octobre 2018) : 489–95. http://dx.doi.org/10.2478/rrlm-2018-0028.
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Abstract Multiple sclerosis (MS) is a common neurologic disorder that is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS). Its etiology remains unknown. Several recent studies have found that decreased susceptibility to vitamin D deficiency is also associated with a decreased risk of MS. The role of vitamin D receptor (VDR) gene and its polymorphisms are highlighted as susceptible components. In this study, we aimed to identify the relationship between ApaI (rs7975232), BsmI (rs 1544410), and TaqI (rs731236) gene polymorphisms with MS. ApaI, BsmI, and TaqI genotypes were determined in 70 patients with MS and in 70 control subjects. DNA was isolated from blood samples, and then ApaI, BsmI and TaqI gene polymorphisms were identified using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The distribution of BsmI and TaqI polymorphisms did not show any significant differences in MS patients and controls; however, increased A allele of ApaI polymorphism was found in MS patients. Our findings suggest that the ApaI gene polymorphism might be associated with MS. Investigation of a larger population and functional work on these gene structures and function in MS patients are recommended.
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Steinman, L., J. R. Oksenberg et C. C. A. Bernard. « Polymorphism in MS ». Neurology 42, no 2 (1 février 1992) : 466. http://dx.doi.org/10.1212/wnl.42.2.466-b.
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Hillert, J., et O. Olerup. « Polymorphism in MS ». Neurology 42, no 2 (1 février 1992) : 467. http://dx.doi.org/10.1212/wnl.42.2.467.
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Bulan, B., AY Hoscan, SN Keskin, A. Cavus, EA Culcu, N. Isik, EO List et A. Arman. « Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis ». Balkan Journal of Medical Genetics 25, no 1 (1 juin 2022) : 41–50. http://dx.doi.org/10.2478/bjmg-2022-0003.
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Abstract Multiple sclerosis (MS) is an inflammatory disease characterized by demyelination and axonal degeneration affecting the central nervous system. Among the genetic factors suggested to be associated with this disease are polymorphisms to the vitamin D receptor (VDR) gene. We tested the hypothesis that polymorphisms in the vitamin D receptor (VDR) gene are associated with MS. The aim of the study was to investigate the relationship of MS with the VDR gene Fok-I, Bsm-I and Taq-I polymorphisms among the Turkish population. This study contains 271 MS patients and 203 healthy controls. Genomic DNA was isolated from the samples and the VDR gene Fok-I, Bsm-I and Taq-I polymorphism regions were amplified by polymerase chain reaction (PCR). The PCR products were digested, and the genotypes were determined based on size of digested PCR products. Our results demonstrate associations between MS and the distribution of the VDR gene Fok-I T/T polymorphism genotype in a dominant model, VDR gene Fok-I T allele frequency, distribution of VDR gene Taq-I C/C polymorphism genotype in a dominant model and VDR gene Taq-I C allele frequency (Pearson test, p<0.05). However, there was no association between MS and the VDR gene Bsm-I polymorphisms for the genotype distribution (Pearson test, p>0.05) or allele frequency (Pearson test, p>0.05). Fok-I and Taq-I VDR gene polymorphisms are significantly associated with MS in dominant, homozygote and heterozygote inheritance models among the Turkish population.
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Gade-Andavolu, Radhika, David E. Comings, James MacMurray, Ravi K. Vuthoori, Wallace W. Tourtellotte, Rashed M. Nagra et Lawrence A. Cone. « RANTES : a genetic risk marker for multiple sclerosis ». Multiple Sclerosis Journal 10, no 5 (octobre 2004) : 536–39. http://dx.doi.org/10.1191/1352458504ms1080oa.
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Regulated upon activation, normal T-cell expressed and secreted (RANTES) is a beta-chemokine and has been detected in brain lesions of multiple sclerosis (MS) patients. Considering its potential role in MS, we screened two functional polymorphisms in the proximal promoter region of the RANTES in MS patients versus controls. Methods: We examined 140 postmortem brain samples from subjects with a primary diagnosis of MS, and peripheral blood samples from 216 control subjects. The RANTES-28C/G and -403G/A promoter polymorphisms were examined. All subjects were non-Hispanic Caucasians. Results: MS cases differed from controls showing a significant association with the 403G/A polymorphism (odds ratio, 2.359, [1.465-3.799]; P-0.0001), but not the -28C/G (P-NS) polymorphism. There was a significant association of the -28G allele with both early onset (P-0.031) and longer survival (P-0.006). Conclusion: There is a significant but complex association of the RANTES gene with MS.
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Dolcetti, Ettore, Antonio Bruno, Federica Azzolini, Luana Gilio, Alessandro Moscatelli, Francesca De Vito, Luigi Pavone et al. « The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis ». Genes 13, no 2 (10 février 2022) : 332. http://dx.doi.org/10.3390/genes13020332.
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The clinical course of multiple sclerosis (MS) is critically influenced by the interplay between inflammatory and neurodegenerative processes. The brain-derived neurotrophic factor (BDNF) Val66Met polymorphism (rs6265), one of the most studied single-nucleotide polymorphisms (SNPs), influences brain functioning and neurodegenerative processes in healthy individuals and in several neuropsychiatric diseases. However, the role of this polymorphism in MS is still controversial. In 218 relapsing–remitting (RR)-MS patients, we explored, at the time of diagnosis, the associations between the Val66Met polymorphism, clinical characteristics, and the cerebrospinal fluid (CSF) levels of a large set of pro-inflammatory and anti-inflammatory molecules. In addition, associations between Val66Met and structural MRI measures were assessed. We identified an association between the presence of Met and a combination of cytokines, identified by principal component analysis (PCA), including the pro-inflammatory molecules MCP-1, IL-8, TNF, Eotaxin, and MIP-1b. No significant associations emerged with clinical characteristics. Analysis of MRI measures evidenced reduced cortical thickness at the time of diagnosis in patients with Val66Met. We report for the first time an association between the Val66Met polymorphism and central inflammation in MS patients at the time of diagnosis. The role of this polymorphism in both inflammatory and neurodegenerative processes may explain its complex influence on the MS course.
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Araújo, Eduarda Pontes dos Santos, Severina Carla Vieira da Cunha Lima, Ony Araújo Galdino, Ricardo Fernando Arrais, Karla Simone Costa de Souza et Adriana Augusto de Rezende. « Association of CYP2R1 and VDR Polymorphisms with Metabolic Syndrome Components in Non-Diabetic Brazilian Adolescents ». Nutrients 14, no 21 (2 novembre 2022) : 4612. http://dx.doi.org/10.3390/nu14214612.
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Associations between vitamin D deficiency and metabolic syndrome (MS) have been reported; however, the underlying biological mechanisms remain controversial. The aim of this study was to investigate the associations of CYP2R1 and VDR variants with MS and MS components in non-diabetic Brazilian adolescents. This cross-sectional study included 174 adolescents who were classified as overweight/obese. Three CYP2R1 variants and four VDR variants were identified by allelic discrimination. The CYP2R1 polymorphisms, rs12794714 (GG genotype) (odds ratio [OR] = 3.54, 95% confidence interval [CI] = 1.24–10.14, p = 0.023) and rs10741657 (recessive model—GG genotype) (OR = 3.90, 95%CI = 1.18–12.92, p = 0.026) were significantly associated with an increased risk of MS and hyperglycemia, respectively. The AG + GG genotype (dominant model) of the rs2060793 CYP2R1 polymorphism was associated with hyperglycemia protection (OR = 0.28, 95%CI = 0.08–0.92, p = 0.037). Furthermore, the CC genotype (recessive model) of the rs7975232 VDR polymorphism was significantly associated with a risk of hypertension (OR = 5.91, 95%CI = 1.91–18.32, p = 0.002). In conclusion, the CYP2R1 rs12794714 polymorphism could be considered a possible new molecular marker for predicting the risk of MS; CYP2R1 rs10741657 polymorphism and VDR rs7975232 polymorphism are associated with an increased risk of diabetes and hypertension in adolescents with overweight/obesity.
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Martinez-Hernandez, A., E. E. Perez-Guerrero, M. A. Macias-Islas, C. A. Nava-Valdivia, A. Villagomez-Vega, B. Contreras-Haro, Y. E. Garcia-Ortega et al. « Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis : A Case-Control Study ». Journal of Immunology Research 2021 (23 décembre 2021) : 1–11. http://dx.doi.org/10.1155/2021/7523997.
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Background. Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease. Low vitamin D levels have been reported to be a risk factor for MS, and genetic variances could be implicated. The aim of this study was to evaluate the association of MS with rs10766197 polymorphism of CYP2R1 gene and rs10877012 polymorphism of CYP27B1 gene. The second aim was to analyse whether these polymorphisms are associated with the severity of the progression of MS. Material and Methods. In a case-control study, we included 116 MS patients and 226 controls, all of whom were Mexican Mestizo. MS was diagnosed by McDonald criteria (2017). A complete neurological evaluation was performed to evaluate the severity of disease progression. Serum 25-hydroxyvitamin D [25(OH) vitamin D] levels were measured by ELISA. Single nucleotide polymorphisms rs10766197 of CYP2R1 gene and rs10877012 SNP of CYP27B1 gene were genotyped by real-time PCR. Results. Serum 25(OH) vitamin D levels were lower in MS patients than in controls ( p = 0.009 ). No differences were observed between serum 25(OH) vitamin D levels of MS patients with severe progression compared to low progression ( p = 0.88 ). A higher frequency of the A allele of CYP2R1 rs10766197 was observed between MS patients and controls ( p = 0.05 ). No differences were observed in the frequency of T allele of CYP27B1 rs10877012 ( p = 0.65 ). In subanalysis, patients with GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS compared to controls ( p = 0.03 ). No increased risk was observed in GT + TT genotypes of CYP27B1 rs10877012 ( p = 0.63 ). No differences were observed in allele frequencies of either polymorphism between patients with severe vs. low disease progression. Conclusion. Lower serum 25(OH) vitamin D levels were observed in MS patients than in controls, although these levels were not associated with disease progression. Carriers of GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS. None of these polymorphisms was associated with severe progression of MS.
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Barto, Libor, et Ondřej Draganov. « The minimal arity of near unanimity polymorphisms ». Mathematica Slovaca 69, no 2 (24 avril 2019) : 297–310. http://dx.doi.org/10.1515/ms-2017-0223.
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Abstract Dmitriy Zhuk has proved that there exist relational structures which admit near unanimity polymorphisms, but the minimum arity of such a polymorphism is large and almost matches the known upper bounds. We present a simplified and explicit construction of such structures and a detailed, self–contained proof.
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Khaliel, Alaa H., Ahmed A. Abbas, Anmar O. Hatem et Ahmed S. Abdulamir. « THE IMPACT OF VERY LATE ANTIGEN 4 POLYMORPHISM ON DRUG RESPONSIVENESS IN PATIENTS WITH MULTIPLE SCLEROSIS INITIATION ». Iraqi Journal of Medical Sciences 20, no 1 (30 juin 2022) : 83–89. http://dx.doi.org/10.22578/ijms.20.1.11.
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Background: Very late antigen 4 (VLA4) integrin facilitates the immune cells migration to central nervous system (CNS) through blood brain barrier (BBB), so the polymorphism in this gene may be considered as genetic risk factor for multiple sclerosis (MS) occurrence. It may interact with the responsiveness level of Natalizumab. Objective: To show if VLA4 single nucleotide gene polymorphism (SNP) (C-269-A) considered as genetic predisposition factor for MS and if have a role in Natalizumab (Tysabri) drug non-responsiveness. Methods: Sixty-six (66) person with MS and 60 healthy persons involved in this study, their ages were range from 14 to 67 years. They attended to seek treatment in the MS outpatient’s clinic, at Baghdad Teaching Hospital, Medical City Complex from December 2018 to March 2020. Patient were divided into two group; resistant group (34) and response group (32). The VLA-4 SNP polymorphism investigated by sequence specific primer polymerase chain reaction (SSP-PCR) technique. Results: The VLA4 gene SSP-PCR genotyping revealed no significant differences between patients and control group also between responder patients and non-responder to Natalizumab. Conclusion: VLA-4 polymorphisms at the level of SNP at positions 269 (C/A) have no role in MS susceptibility or Natalizumab responsiveness. Keywords: MS, Natalizumab, VLA-4 Citation: Khaliel AH, Abbas AA, Hatem AO, Abdulamir AS. The impact of Very Late Antigen 4 polymorphism on drug responsiveness in patients with multiple sclerosis initiation. Iraqi JMS. 2022; 20(1): 83-89. doi: 10.22578/IJMS.20.1.11
Thèses sur le sujet "Ms polymorphism"
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Glas, Michael. « Mutationsanalyse im p53-Gen bei Patienten mit Multipler Sklerose ». Doctoral thesis, [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=969662440.
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LOTTO, VALENTINA. « Nutrient-gene interactions within one-carbon metabolism and effects on epigenetic regulation through dna methylation in peripheral blood mononuclear cells ». Doctoral thesis, Università degli Studi di Milano-Bicocca, 2010. http://hdl.handle.net/10281/18016.
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Epigenetics is a field of molecular biology that copes with the study of gene function regulation without variations in DNA structure or nucleotide sequences.
Among the main epigenetic phenomema in eukaryotic cells there are DNA methylation and post-traslational mechanisms among which the major are histone methylation and acetylation.
Epigenetic changes are potentially reversible phenomena that are controlled also by nutritional factors as the methyl-donors involved in the folate cycle.
Plasma levels of B vitamins, among which “in primis” plasma folate concentrations, are implicated in epigenetic modulation so that it can be hypothesized that they may affect the modulation of gene expression through epigenetic mechanisms.
Epigenetic modifications represent one of the earliest events in the genesis of some complex pathologies, therefore the study of the interaction between epigenetics and nutritional status is of great interest either to define the physiopathological mechanisms of development of some illnesses, and for possible personalized strategies of prevention.
The present work has been articulated, at first, on the analysis of gene-nutritional interaction mechanisms within the folate cycle through the study of polymorphisms of enzymes involved in the metabolism of methyl-group donors; the aim was to study their possible role on the modulation of genomic DNA methylation in relationship to different plasma levels of idrosoluble B vitamins. In this regard, the most important functional polymorfisms known on the genes of one-carbon metabolism and their relationship with methylation status of polymorphonuclear cells DNA have been analyzed from a cohort of around 800 subjects within a clinical study, underlining the role of the key folate-related enzymes in the modulation of DNA methylation.
Besides the function of genomic DNA methylation, the methylation status at specific sites has been also approached with the specific intent of considering a possible interrelationship between the role of promoter methylation and the co-presence of functional polymorphisms in the same genic site for a gene for which a precise functional effect is well-known. To address this issue the promoter region of coagulation factor VII gene was evaluated for both genetic and epigenetic modifications as a possible model of genetic-epigenetic interaction in the modulation of gene product regulation. The results showed the key importance of genetic-epigenetic interactions, so far unknowm, in modulating gene-expression at promoter gene sites.
The role of other vitamins involved in one-carbon metabolism in major chronic diseases, and specifically the emerging role of B6 vitamin, have been also studied.
Furthermore, a clinical study is now in progress to evaluate the function of gene-specific methylation in liver tissue where most of the folate cycle functions take place. The aim of this project is the evaluation of both genome-wide and gene-specific methylation status in the liver in comparison to that observed in peripheral blood mononuclear cells DNA to define whether methylation status of peripheral blood DNA may be regarded as a good systemic biomarker for this epigenetic feature of DNA in relation to B vitamins nutritional status in cancer disease. Results from this study may help to define possible functional markers of gene-nutrients interactions with effects on epigenetic modulation for future preventive or therapeutic strategies. With that purpose, a novel high-throughput array-based technique for the detection of gene-specific methylation at promoter sites has been optimized in our laboratory.
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Eriksson, Jenny. « Studies of Eosinophil Cationic Protein (ECP) in vivo and in vitro : Impact of Genetic and Posttranslational Modifications ». Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-8261.
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Mann, C. L. A. « The relationship of genetic polymorphisms to disease severity of multiple sclerosis ». Thesis, Keele University, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.341244.
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The glutathione S-transferase (GST) supergene family encodes isoenzymes that appear to be critical in protection against oxidative stress. Certain GST loci are polymorphic, demonstrating alleles that are null (GSTMI/GSTT1), encode low activity variants (GSTPI), or are associated with variable inducibility (GSTM3). Interleukin-1 (IL- 1) alpha and beta are cytokines involved in recruitment of inflammatory cells, the process of inflammation, and blood-brain barrier breakdown and nerve regeneration. Polymorphisms of both GST and of a complementary interleukin-1 receptor antagonist have been associated with severity and susceptibility to other inflammatory conditions. This thesis examines the influence of the GST and IL-1 genes on both the susceptibility to Multiple Sclerosis (MS), and the course of disease progression. The population examined consisted of four hundred patients with clinically definite MS. Disease severity was measured using the Kurtzke Expanded Disability Status Scale (EDSS), a robust established ranking scale. PCR-based genotyping was performed using DNA extracted from lymphocytes. Significant associations between genotypes and clinical outcome were corrected for known demographic factors influencing prognosis, these being; gender, onset age, and disease duration using the statistical method of logistic regression. Significant associations, withstanding multiple testing corrections, with certain IL-I genotypes and disease severity were found. There was also a significant trend with the GST isoenzymeM 3 that is expressedin nervous tissue. No robust findings suggest that these genes influence susceptibility to MS, but the results suggest that long-term prognosis is genetically influenced by the modulation of inflammatory cytokines and also by the ability to remove the toxic products of oxidative stress.
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Davis, William Henry. « Development of a high-throughput genotyping assay for detection of functional polymorphisms involved in homocysteine metabolism and the methylation process implicated in multiple sclerosis ». Thesis, Stellenbosch : Stellenbosch University, 2013. http://hdl.handle.net/10019.1/95457.
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Thesis (MMedSc)--Stellenbosch University, 2013.ENGLISH ABSTRACT: The aetiology of multiple sclerosis (MS) remains largely unknown due to the multifactorial nature of disease susceptibility determined by both environmental and genetic factors. Progress has been made in identifying the genetic component of MS , as well as the possible interactions with the environment. In this study single nucleotide polymorphisms (SNPs) in the FTO (rs9939609, Intron 1 T>A), MTR (rs1805087, 2756 A>G), MTRR (rs1801394, 66 A>G), MTHFR (rs1801133, 677 C>T and rs1801131, 1298 A>C) and COMT (rs4680, 472 G>A) genes involved in the methylation metabolic pathway were studied in the context of MS. The overall objective of this study was to elucidate the mechanism underlying raised homocysteine levels in MS patients. The specific aims were 1) to analytically validate high throughput real-time polymerase chain reaction (RT-PCR) genotyping assays for the 6 selected SNPs against direct sequencing as the gold standard for 2) possible integration into a pathology-supported genetic testing strategy aimed at improved clinical management of MS. The study population included a total of 114 unrelated Caucasian MS patients (98 females and 16 males) and 195 unrelated Caucasian control individuals without a diagnosis of neurological disease (128 females and 67 males). A novel finding of this study was that the risk-associated FTO rs9939609 A-allele was associated with raised homocysteine levels (p=0.003) in patients diagnosed with MS, but not in controls. Furthermore, homocysteine levels correlated significantly with bo dy mass index (BMI) (p=0.046) and total cholesterol levels (p=0.048). Both homocysteine (p=0.011) and BMI (p=0.017) were significantly reduced with increasing intake of folate in the diet, while high saturated/trans fat intake correlated significantly with increased BMI (p<0.001). High physical activity correlated with reduced BMI (p<0.006) in the study population, adjusted for age, gender and disease status. Daily intake of at least five fruit and vegetable portions and the COMT rs4680 (472 G>A) AA genotype had a favourable lowering effect on MS disability as assessed by the expanded disability status scale (EDSS) (p=0.035), while smoking increased MS disability significantly (p<0.001). All SNPs studied were found to be in Hardy-Weinberg equilibrium (HWE), with no significant differences detected between patients and control individuals in genotype distribution or allele frequencies. This study has shown for the first time that the underlying disease process of MS moderates the effect of the FTO rs9939609 polymorphism on homocysteine levels , which is consistent with the role of FTO in demethylation and epigenetic changes. Identification of FTO rs9939609 reinforces the importance of adequate folate intake in the diet that can be assessed accurately with use of the Medical History and Lifestyle Questionnaire applied in this study. Finally, the finding that raised homocysteine levels and BMI are significantly influenced by lifestyle factors such as diet and physical activity in our study cohort , offers a solution to counteract the detrimental effects of genetic risk factors contributing to the development of these established vascular risk factors for MS. Combining this information with FTO rs9939609 and COMT rs4680 genotyping may in future translate into a comprehensive pathology supported genetic testing strategy aimed at improved risk management and quality of life in MS patients.
AFRIKAANSE OPSOMMING: Die etiologie van meervoudige sklerose (MS) is grootliks onbekend as gevolg van die multifaktoriale aard van siekte vatbaarheid wat bepaal word deur beide genetiese en omgewingsfaktore. Vordering is reeds gemaak in die identifisering van die genetiese component van MS, asook moontlike interaksie met die omgewing. In hierdie studie is enkel nukleotied polimorfismes (SNPs) in die FTO (rs9939609, Intron 1 T > A), MTR (rs1805087, 2756 A> G), MTRR (rs1801394, 66 A> G), MTHFR (rs1801133, 677 C > T en rs1801131, 1298 A> C) en COMT (rs4680, 472 G > A) gene, wat betrokke is in die metilering metaboliese padweg, in die konteks van MS bestudeer. Die oorhoofse doel van hierdie studie was om die onderliggende meganisme betrokke by verhoogde homosisteïen vlakke in MS pasiënte uit te lig. Die spesifieke doelwitte was 1) om die analitiese geldigheid van die hoë deurvoer riëeltyd polymerase kettingreaksie (RT-PCR) genotipering metode soos toegepas vir die 6 geselekteerde SNPs te bevestig teen direkte DNA volgorde bepaling as die goue standaard, vir 2) moontlike integrasie in 'n patologie-gesteunde genetiese toetsing (PSGT) stategie wat gemik is op verbeterde kliniese hantering van MS. Die studiepopulasie bestaan uit 'n totaal van 114 nie-verwante Kaukasiese MS pasiënte (98 vroue en 16 mans) en 195 nie-verwante Kaukasiese kontroles sonder ‘n diagnose van neurologiese siektes (128 vroue en 67 mans). 'n Nuwe bevinding van hierdie studie was dat die risiko-verwante FTO rs9939609 A- alleel geassosieer was met verhoogde homosisteïen vlakke (p = 0,003) in pasiënte gediagnoseer met MS, maar nie in kontroles nie. Homosisteïen vlakke was verder beduidend geassosieer met liggaamsmassa-indeks (BMI) (p=0,046) en totale cholesterol vlakke (p=0.048). Beide homosisteïen (p=0,011) en BMI (p=0,017) het aansienlik verminder met 'n hoër inname van folaat in die dieet, terwyl 'n hoë versadigde/trans vet en koolhidrate inname beduidend gekorreleer het met 'n verhoogde BMI (p <0.001). Hoë fisiese aktiwiteit was gekorreleer met 'n verminderde BMI (p< 0.006) in die gekombineerde groep, aangepas vir die ouderdom, geslag en MS diagnose. Daaglikse inname van ten minste vyf vrugte en groente porsies en die COMT rs4680 (472 G>A) AA genotipe het 'n gunstige uitwerking op vermindering van gestremdheid gehad, soos bepaal deur die uitgebreide gestremdheid status skaal (EDSS) (p=0,035), terwyl rook MS gestremdheid beduidend verhoog het (p <0.001). Alle SNPs bestudeer was in Hardy-Weinberg ewewig (HWE), met geen beduidende verskille waargeneem in genotipe verspreiding of alleelfrekwensies tussen pasiënte en kontroles nie. Hierdie studie het vir die eeste keer aangetoon dat ‘n diagnose van MS die effek van die FTO rs9939609 polimorfisme op homosisteïen vlakke modereer, wat ooreenstem met die rol van FTO in demetilering en epigenetiese veranderinge. Identifikasie van FTO rs9939609 versterk die belangrikheid van genoegsame folaat inname in die dieet wat akkuraat gemeet kon word deur gebruik te maak van die Mediese Geskiedenis en Leefstyl Vraelys soos toegepas in hierdie studie. Ten slotte, die bevinding dat verhoogde homosisteïen vlakke en BMI statisties betekenisvol beïnvloed word deur leefstylfaktore soos dieet en fisiese aktiwiteit in ons studie populasie, verskaf 'n oplossing om die genetiese bydrae tot hierdie gevestigde vaskulêre risikofaktore vir MS teen te werk. Kombinasie van hierdie inligting met FTO rs9939609 en COMT rs4680 genotipering kan moontlik in die toekoms benut word as deel van 'n omvattende patologie- gesteunende genetiese toetsing strategie wat daarop gemik is om die risikobestuur en kwaliteit van lewe te verbeter in MS pasiënte.
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Vogl, Silvia [Verfasser], et Gilbert [Akademischer Betreuer] Schönfelder. « Investigation of individual differences in the metabolic elimination of drugs by the polymorphic enzymes CYP2C9, 2C19 and 2D6 based on metabolite profiling by LC-MS/MS / Silvia Vogl, geb. Baumann. Betreuer : Gilbert Schönfelder ». Würzburg : Universitätsbibliothek der Universität Würzburg, 2012. http://d-nb.info/1019944765/34.
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Mossi, Altemir José. « Variabilidade genética e de compostos voláteis e semi-voláteis em Maytenus ilicifolia Mart. ex Reiss ». Universidade Federal de São Carlos, 2003. https://repositorio.ufscar.br/handle/ufscar/1742.
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Previous issue date: 2003-04-29Universidade Estadual de Maringá
Genetic and chemical variability of Maytenus ilicifolia Maytenus ilicifolia is a native plant of Southern Brazil commonly used as a popular medicine for indigestion, gastritis and ulcers. The large use of this plant has increased the degradation of the species, and thus it is presently included in FAO´s list for priority species for studying and conservation in South America. In this context, this work aimed to contribute with studies that help the conservation of this species. Initially, a survey in herbaria and in the field was performed to identify the incidence and distribution of the genus Maytenus in the State of Rio Grande do Sul. Three new species (M. glaucenscens Reiss, M. gonoclada Mart. and M. robusta Reiss) were found in this State. The genetic variability study of three populations showed that the intrapopulational variation (variance from 0.102 to 0.140) is higher than the interpopulational (variance between 0.076 and 0.099%). The three populations analyzed grouped themselves with low significance level and 7.6% of the present alleles are rare. The genetic variability study involving 18 native populations of Maytenus ilicifolia, Maytenus aquifolia and Maytenus evonymoidis demonstrated that the species may be separated with 100% of confidence, and that M. ilicifolia and M. aquifolia are genetically more similar. The populations of Maytenus ilicifolia analyzed formed three groups with low confidence levels. Group I included the populations of Ponta Porã, group II the populations of Santana do Livramento, Vale Verde, Canguçu and Unistalda, and group III was formed by the other 13 populations. A similarity in the genetic and environmental grouping of such species was observed. The chemical characterization was performed by gas chromatography of the extracts obtained with high pressure CO2. An increase in the yield of extract was obtained when the temperature of extraction as well as the solvent density were increased. The compounds that presented higher yield in the first fractions were dodecanoic acid, geranyl acetone, phytol, squalene, vitamin E and stigmast-5-enol. The compounds friedelan-3-ol and friedelin were extracted in higher yields in the following fractions. The chemical variability study of the volatile and semi-volatile compounds of populations of M. ilicifolia showed a yield of extract (0,488 a 0,976 %) significantly different between the populations. In addition no relation between the chemical and environmental or between the chemical and genetic grouping could be established.
Maytenus ilicifolia (espinheira-santa) é uma planta nativa da região sul do Brasil empregada na medicina popular para tratamentos de indigestão, úlceras e gastrites. A ampla utilização de Maytenus ilicifolia na medicina popular, tem levado à perda de populações da espécie, encontrando-se atualmente na lista da FAO como uma das espécies prioritárias para estudo e conservação na América do Sul. Neste sentido, o presente trabalho teve como objetivo realizar estudos que subsidiem protejos de conservação desta espécie. Inicialmente foi realizado um levantamento em herbários e a campo, verificando a ocorrência e distribuição do gênero Maytenus no estado do Rio Grande do Sul, sendo encontradas três novas espécies: M. glaucescens Reiss, M. gonoclada Mart. e M. robusta Reiss. No estudo da variabilidade genética em três populações, a variação intrapopulacional (0,102 a 0,140) é superior à interpopulacional (0,076 a 0,099). As três populações analisadas se agruparam com baixos valores de significância e 7,6% dos alelos presentes são raros. No estudo da variabilidade genética envolvendo 18 populações nativas de Maytenus ilicifolia e plantas de Maytenus aquifolia e Maytenus evonymoidis, pode-se separar as espécies com 100% de confiança e M. ilicifolia e M. aquifolia estão mais próximas geneticamente em relação a M. evonymoidis. As populações de Maytenus ilicifolia analisadas formaram 3 grupos com valores baixos de índice de confiança baixos, sendo o grupo I a população de Ponta Porá, o grupo II as populações de Santana do Livramento, Vale Verde, Canguçu e Unistalda e o grupo III formados pelas 13 populações restantes. Observou-se semelhança no agrupamento genético e ambiental destas populações. No estudo da caracterização química, via cromatografia gasosa dos extratos obtidos por CO2 a alta pressão, observou-se um acréscimo na eficiência de extração com aumento de temperatura e densidade do solvente. Os compostos ácido dodecanóico, geranil acetona, fitol, Esqualeno, Vitamina E e Stigmast-5-enol foram extraídos em maior concentração nas primeiras frações, independente das condições de extração, enquanto que os compostos Friedelan-3-ol e Friedelin, foram extraídos em maior quantidade nas frações seguintes. Na análise da variabilidade química dos compostos voláteis e semi-voláteis das populações de Maytenus ilicifolia ). Verificou-se no rendimento de extrato (0,488 a 0,976 %) e concentração dos compostos analisados diferenças significativas entre as populações analisadas e não houve relação entre o agrupamento químico das populações com os agrupamentos ambientais e genéticos.
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Al, Saabi Alaa. « Relevance of Ethylglucuronide as a marker of alcohol consumption : development of dosage methods and study of factors potentially affecting its production ». Phd thesis, Université du Droit et de la Santé - Lille II, 2013. http://tel.archives-ouvertes.fr/tel-00992193.
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La consommation excessive d'alcool présente des risques élevés pour l'individu et pour la société ; elle est fréquemment associée à une augmentation du risque d'accidents, d'actes de violence, et peut également conduire à court et/ou à long terme à de graves maladies et à des problèmes sociaux. Dès lors, l'utilisation de marqueurs fiables permettant de détecter une consommation excessive d'alcool, ponctuelle ou chronique, s'avère nécessaire pour prévenir des conséquences néfastes de l'abus d'alcool. L'éthylglucuronide (EtG) est un marqueur d'alcoolisation utilisé en toxicologie clinique (alcoologie) et médicolégale. Par rapport aux marqueurs indirects d'alcoolisation (CDT, γ-GT), ce métabolite mineur de l'éthanol est très spécifique et est quantifiable dans diverses matrices biologiques. La production d'EtG est catalysée par des enzymes de la famille des UDP-glucuronosyl-transférases (UGT). Cependant, les UGT impliquées dans la glucuronoconjugaison de l'éthanol, ainsi que les sources potentielles de variabilité interindividuelle de la production d'EtG, sont encore mal connues. Nos travaux ont ainsi consisté à (1) développer et valider une méthode de dosage de l'EtG dans différentes matrices biologiques par chromatographie en phase gazeuse couplée à la spectrométrie de masse en tandem, (2) identifier les UGT humaines impliquées dans la glucuronoconjugaison de l'éthanol et étudier la contribution relative de chaque isoforme active au niveau hépatique, (3) étudier l'impact de substances fréquemment utilisées par les consommateurs d'alcool sur la production d'EtG in vitro, (4) étudier l'impact de polymorphismes génétiques fonctionnels des UGT sur la production hépatique d'EtG, et enfin (5) évaluer l'impact de la consommation de cannabis et d'autres drogues sur la production d'EtG à l'aide de prélèvements post-mortem. Ces travaux ont notamment permis de montrer que (1) l'éthanol est glucuronoconjugué principalement par le foie, puis dans une moindre mesure par les reins et par l'intestin, (2) les UGT1A9 et 2B7 sont les deux enzymes majoritairement impliquées dans la glucuronoconjugaison de l'éthanol, quel que soit l'organe considéré, (3) la morphine, la codéine, la nicotine et la cotinine n'entraînent aucune modification des taux de production d'EtG in vitro ; le lorazépam et l'oxazépam augmentent légèrement cette production (p = 0,2 et 0,065, respectivement) ; le cannabidiol inhibe la glucuronoconjugaison de l'éthanol par un mécanisme non-compétitif (CI50 = 1,17 mg/L; Ki = 3,1 mg/L), alors que le cannabinol augmente cette glucuroconjugaison de manière concentration-dépendante (p <0,05), (4) les SNP c.-900G>A affectant l'UGT2B7 et IVS1+399T>C affectant l'UGT1A9 augmentent légèrement la production d'EtG in vitro. Enfin (5) le rapport des concentrations sanguines EtG/éthanol apparaît significativement plus élevé chez des co-consommateurs de cannabis et/ou d'autres drogues que chez des consommateurs d'alcool seul. L'ensemble de ces résultats démontre l'existence de plusieurs facteurs pouvant potentiellement influencer la production d'EtG et devraient donc être pris en considération lors de l'interprétation de sa concentration in vivo.
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Cansian, Rogério Luis. « Variabilidade genética e de compostos voláteis e semi-voláteis em populações nativas de llex paraguariensis (St. Hil.) do Brasil, visando a conservação da espécie ». Universidade Federal de São Carlos, 2003. https://repositorio.ufscar.br/handle/ufscar/1862.
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Previous issue date: 2003-04-29Universidade Estadual de Maringá
Ilex paraguariensis, known as mate tea, is processed in many ways and commercialized as tea, soluble powder, essences, and processed leaves for preparation of mate tea without sugar ( chimarrão and tererê ). Aiming the conservation of this species, this work studied the intra- and interpopulational genetic variabilities of I. paraguariensis and its volatiles and semi-volatiles composition in 20 populations inside the area of incidence of this species in Brazil. Paternity tests were also performed to identify a favorable crossing for obtaining lineages with the characteristics of interest, reducing then the impact of extractive harvest on the native plants. Genetic variability of I. paraguariensis analyzed by RAPD markers (Random Amplified Polymorphic DNA) is lower to the reported variability in other dioic arboreal species. Intrapopulational variability is higher than interpopulational in this species. In intra and interpopulational studies alleles with the same allele sequence were identified, as well as alleles with very different sequences, what evidences the incidence of genetic flux among populations that are close geographically, but with alleles specific of each population. The environmental differences taken into account were not enough to explain genetic and chemical differences found among the populations. These results show the possibility of influences of microenvironmental factors and non-analyzed genes in the analyzed chemical composition of mate tea leaves. The population of Ponta Porã, geographically separated from the others, proved to be genetically distinct. Species-specific fragments were obtained for I. paraguariensis, I. dumosa and I. theezans. However, more studies for confirmation and utilization of such fragments must be carried out. The differences in the volatiles and semivolatiles composition among the populations turned their separation possible, and may be useful for identification and inclusion of genotypes, superior in specific compounds, in germoplasm collections. For conservation of this species in germoplasm collections ex situ, material collecting must be based on genetic analysis, as well as on geographical distribution, due to the higher intrapopulational variability and occurrence of rare alleles in the species. The RAPD technique may be used for paternity identification, mainly in arboreal species, making possible to obtain genetic improvement by performing controlled crossings. Based on these results, it was possible the discussion concerning the conservation aspects of this species.
Ilex paraguariensis, mais conhecida como erva-mate, é beneficiada por diversas formas e comercializada como chá, pó solúvel, essências e erva para chimarrão e tererê. Visando sua conservação, foram estudadas sua variabilidade genética intra e interpopulacional e sua composição química em 20 populações na área de ocorrência da espécie no Brasil. Também foram realizados testes de paternidade para identificação de um cruzamento favorável à obtenção de progênies com características de interesse, objetivando reduzir o impacto sobre ervais nativos causados pelo extrativismo. A variabilidade genética analisada por marcadores moleculares RAPD (polimorfismo de DNA amplificado ao acaso) em I. paraguariensis é inferior à variabilidade reportada em outras espécies arbóreas dióicas. A variabilidade intrapopulacional é maior que a variabilidade interpopulacional nesta espécie. Em estudos intra e interpopulacionais identificaram-se alelos com mesma freqüência alélica e alelos com freqüências bastante distintas, evidenciando a ocorrência de fluxo gênico entre populações próximas geograficamente, porém com alelos característicos de cada população. As diferenças ambientais consideradas não foram suficientes para explicar as diferenças genéticas e químicas encontradas entre as populações, demonstrando a possibilidade de haver interferências micro-ambientais e de genes ainda não analisados, influenciando na composição química da erva-mate. A população de Ponta Porã, separada geograficamente das demais, mostrou-se distinta geneticamente. Fragmentos espécie específicos foram obtidos para I. paraguariensis, I. dumosa e I. theezans, porém requerendo mais estudos neste sentido para confirmação e utilização destes. As diferenças nas análises dos compostos voláteis e semi-voláteis entre as populações, permitiram a separação destas e podem ser úteis para a identificação e inclusão de genótipos superiores em determinados compostos em bancos de germoplasma. Para a conservação desta espécie em bancos de germoplasma ex situ a coleta de materiais deve ser baseada em análises genéticas, além da distribuição geográfica, devido à maior variabilidade intrapopulacional e ocorrência de alelos raros na espécie. A técnica de RAPD pode ser utilizada para a identificação de paternidade, principalmente em espécies arbóreas, podendo-se obter ganhos genéticos com a condução de cruzamentos controlados. Os resultados obtidos embasaram discussões sobre aspectos de conservação desta espécie.
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Silva, Jaine Soares Lima da. « Análise da contribuição do inflamassoma na patogênese da esclerose múltipla ». Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/5/5133/tde-19022019-112809/.
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A esclerose múltipla (EM), doença neurodegenerativa do sistema nervoso central (SNC) com característica auto-imune e inflamatória, com eventos iniciais, bem como a evolução da EM. É uma doença heterogênea (três principais formas clínicas) e multifatoriais. A imunidade inata demonstrou recentemente ser um fator importante na EM e as variantes genéticas dos componentes do inflamassoma têm sido associadas a doenças autoimunes e neurodegenerativas, com isso hipotetizamos que o inflamassoma e suas citocinas IL-1Beta e IL-18, podem representar importantes contribuintes na patogênese da EM e eventualmente explicar, pelo menos em parte, a heterogeneidade observada em pacientes com EM. Fizemos uma análise multivariada que foi realizada com base na forma clínica (recorrente remitente/RR, primária progressivo /PP ou secundário progressiva /SP, índice de gravidade (EDSS) e índice de progressão (IP). Os monócitos do sangue periférico (PBMC) dos pacientes foram examinados para ativação do inflamassoma (Produção de IL-1Beta e IL-18, clivagem de caspase-1). Com os objetivos de avaliar a contribuição do inflamassoma na EM, em termos de (a) efeito genético sobre o desenvolvimento, gravidade e / ou prognóstico, e (b) ativação complexa de células de sangue periférico como uma forma de avaliar a inflamação sistêmica. Para isso, utilizamos variantes genéticas funcionais em componentes do inflamassoma, que foram analisadas em uma coorte de pacientes com EM, pelo uso de ensaios específicos de alelos e qPCR. A analise multivariada resultou em associação com a variante -511C / T IL1B ganho de função, sendo essa mais frequente em formas progressivas (especialmente SP) do que em RR. A variante de ganho de função NLRP3 Q705K resultou mais frequente em pacientes com EDSS > 3 do que em pacientes com EDSS < 3 e, consequentemente, esse SNP está associado a um IP mais elevado. A análise de PBMC mostrou que as células de indivíduos EM, são mais propensas a responder a um estímulo NLRP3 clássico (isto é, LPS) do que as dos doadores saudáveis. Em conjunto, esses achados indicaram que os pacientes com EM apresentam uma desregulação no inflamassoma NLRP3, podendo ser avaliada no sangue periférico facilitando um prognóstico, e que esse perfil pode ser secundário a um mecanismo genético pró-inflamassomaThe multiple sclerosis (MS), neurodegenerative disease of the central nervous system (CNS) with autoimmune and inflammatory characteristics, with initial events, as well as the evolution of MS, are heterogeneous (three main clinical forms) and multifactorial. Innate immunity has recently been shown to be an important factor in MS and the genetic variants of the components of inflammassoma have been associated with autoimmune and neurodegenerative diseases, thereby hypothesizing that the inflammassoma and its IL-1Beta and IL-18 cytokines may represent important contributors in the pathogenesis of MS and possibly explain, at least in part, the heterogeneity observed in MS patients. We performed a multivariate analysis that was performed based on clinical form (recurrent recurrent / RR, progressive primary / PP or progressive secondary / SP, EDSS and progression index.) Peripheral blood mononuclear cells (PBMC) of patients were examined for inflammatory activation (IL-1Beta and IL-18 production, caspase-1 cleavage). With the objectives of evaluating the contribution of inflammassoma in MS in terms of (a) genetic effect on development, severity and / or prognosis, and (b) complex activation of peripheral blood cells as a way of assessing systemic inflammation. For this, we used functional genetic variants in components of the inflammassoma, which were analyzed in a cohort of MS patients, through the use of specific allele and qPCR assays. For this, we used functional genetic variants in components of the inflammassoma, which were analyzed in a cohort of MS patients, through the use of specific allele and qPCR assays. Multivariate analysis resulted in association with the -511C / T IL1B function gain, which is more frequent in progressive forms (especially SP) than in RR. The gain variant of NLRP3 Q705K function was more frequent in patients with EDSS > 3 than in patients with EDSS < 3 and, consequently, this SNP is associated with a higher PI. PBMC analysis showed that cells from MS individuals are more likely to respond to a classical NLRP3 (ie LPS) stimulus than healthy donors. Taken together, these findings indicated that patients with MS have a dysregulation in the NLRP3 inflammassoma and can be evaluated in the peripheral blood facilitating a prognosis and that this profile may be secondary to a pro-inflammatory genetic mechanism
Chapitres de livres sur le sujet "Ms polymorphism"
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Alonso, Sergio, Koichi Suzuki, Fumiichiro Yamamoto et Manuel Perucho. « Methylation-Sensitive Amplification Length Polymorphism (MS-AFLP) Microarrays for Epigenetic Analysis of Human Genomes ». Dans Methods in Molecular Biology, 137–56. New York, NY : Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-7768-0_8.
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van den Boom, Dirk, et Mathias Ehrich. « Discovery and Identification of Sequence Polymorphisms and Mutations with MALDI-TOF MS ». Dans Methods in Molecular Biology, 287–306. Totowa, NJ : Humana Press, 2007. http://dx.doi.org/10.1007/978-1-59745-030-0_16.
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Singh, Kamaleshwar P. « Screening of DNA Methylation Changes by Methylation-Sensitive Random Amplified Polymorphic DNA-Polymerase Chain Reaction (MS-RAPD-PCR) ». Dans Molecular Toxicology Protocols, 71–81. Totowa, NJ : Humana Press, 2014. http://dx.doi.org/10.1007/978-1-62703-739-6_6.
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Singh, Kamaleshwar P. « Analysis of Toxicants-Induced Alterations in DNA Methylation by Methylation-Sensitive-Random Amplified Polymorphic DNA-Polymerase Chain Reaction (MS-RAPD-PCR) ». Dans Molecular Toxicology Protocols, 213–24. New York, NY : Springer US, 2020. http://dx.doi.org/10.1007/978-1-0716-0223-2_11.
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Kajiwara, Hideyuki. « Gene Analysis Using Mass Spectrometric Cleaved Amplified Polymorphic Sequence (MS-CAPS) with Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF) ». Dans Methods in Molecular Biology, 205–14. New York, NY : Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-1966-6_16.
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Ghosal, Anima, Ragulan Ramanathan, Narendra S. Kishnani, Swapan K. Chowdhury et Kevin B. Alton. « Chapter 12 Cytochrome p450 (cyp) and udp-glucuronosyltransferase (ugt) enzymes : role in drug metabolism, polymorphism, and identification of their involvement in drug metabolism ». Dans Identification and Quantification of Drugs, Metabolites and Metabolizing Enzymes by LC-MS, 295–336. Elsevier, 2005. http://dx.doi.org/10.1016/s1464-3456(05)80014-6.
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« Eels at the Edge : Science, Status, and Conservation Concerns ». Dans Eels at the Edge : Science, Status, and Conservation Concerns, sous la direction de Mei-Chen Tseng, Wann-Nian Tzeng et Sin-Che Lee. American Fisheries Society, 2009. http://dx.doi.org/10.47886/9781888569964.ch4.
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<em>Abstract.—</em>Polymorphic microsatellite loci as genetic markers were used to reject the null hypothesis of panmixia for the Japanese eel, <em>Anguilla japonica</em>. Observed heterozygosity showed slight heterozygote deficiencies over all loci. One of the eight loci (MS-4) in one sample showed departure from Hardy-Weinberg equilibrium. Unbiased Nei’s genetic distances ranged from approximately 0.058 to 0.134. A slight genetic differentiation was determined by <EM>F</EM><sub>ST</sub> and <EM>R</EM><sub>ST</sub> statistics when adjusted with Bonferroni correction. Although isolation by distance is often observed in marine species, its use as a null hypothesis seems questionable. Although the freshwater eel is categorized as a catadromous fish, the value of genetic diversity obtained fell within that of marine fishes. A higher correlation (<EM>P </EM>< 0.001) resulting from AMOVA supports the separation of Japanese eels into two management units: a low-latitude group (Shantou, Tanshui, and Fangliao) and a high-latitude group (Daecheon-myon, Yalu River, Hangzhou, and Mikawa Bay). Such a population subdivision will be useful for further applications of fisheries conservation and management in the northwestern Pacific Ocean.
Actes de conférences sur le sujet "Ms polymorphism"
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Haiying, Cheng, et Wang Weidong. « 16S rRNA : Genes Comparative Analysis of Microbial Communities in Oil Reservoir With Nutrients Injection by Terminal Restriction Fragment Length Polymorphism Method ». Dans International Symposium on Oilfield Chemistry. Society of Petroleum Engineers, 2007. http://dx.doi.org/10.2118/106398-ms.
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Sood, S., et P. Gouma. « Polymorphic Reactions and In-Situ Single Crystal Metal Oxide Nanowire Formation in TEM ». Dans MS&T18. MS&T18, 2018. http://dx.doi.org/10.7449/2018mst/2018/mst_2018_770_776.
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Sood, S., et P. Gouma. « Polymorphic Reactions and In-Situ Single Crystal Metal Oxide Nanowire Formation in TEM ». Dans MS&T18. MS&T18, 2018. http://dx.doi.org/10.7449/2018/mst_2018_770_776.
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Takacs, Gabor, et Zoltan Turzo. « Nodal System Analysis Using Object-Oriented Programming Techniques ». Dans Petroleum Computer Conference. SPE, 1993. http://dx.doi.org/10.2118/26250-ms.
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Abstract In order to efficiently design a flowing or artificial lifted well and to choose the most economical producing equipment, one has to analyze its components in conjunction with the entire system. These kinds of analyses are customarily called Nodal System Analyses. The development of computer programs for Nodal System Analysis is a complicated and time-consuming task mainly due to the complexity of the system. A recently emerging programming technique, Object-Oriented Programming or OOP can provide programmers an excellent means for solving such difficult problems. The aim of this paper is to show the use of OOP programming techniques in the development of a computer program for Nodal System Analysis. A discussion of Nodal Analysis methodology is given first. Then the fundamentals of Object Oriented Programming are shown with a detailed description of its basic terms: object, method, inheritance, encapsulation, polymorphism, etc. Application of OOP techniques is demonstrated through the development of a computer program for a simplified producing system of a flowing well. This case includes the following hydraulic components: reservoir, tubing string, flowline, separator. In the computer program, these elements are represented by individual objects with their own variables and subroutines. Since the different hydraulic components of the producing system have a lot of common parameters, the objects representing them have this feature as well. The main objects can be made up of smaller objects containing the common parameters resulting in a hierarchy of objects. In the paper, considerations are given on the most suitable hierarchy of objects along with details of their structure. The practical value of any computer program heavily relies on an efficient input and output structure. According to the latest trends, the program developed here uses menu-based input and graphical output sections. The program developed in this paper was written in Turbo Pascal 6.0, its menu system was created using Turbo Vision, the object-oriented application framework for Turbo Pascal 6.0.
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Machal, A. C., R. A. Flurer, T. W. Brueggemeyer, L. E. Ellis, R. D. Satzger et K. R. Stewart. « RIBAVIRIN : The analysis of a polymorphic substance by LC-MS and FTIR spectroscopy ». Dans The eleventh international conference on fourier transform spectroscopy. AIP, 1998. http://dx.doi.org/10.1063/1.55776.
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Rocha, José Claudio Casali da. « THE INFLUENCES OF ADHERENCE TO TAMOXIFEN AND CYP2D6 PHARMACOGENETICS ON PLASMA CONCENTRATIONS OF THE ACTIVE METABOLITE (Z)-ENDOXIFEN IN BREAST CANCER ». Dans Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2025.
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Tamoxifen efficacy in breast cancer is suspected to depend on adherence and intact drug metabolism. We evaluated the role of adherence behavior and pharmacogenetics on the formation rate of (Z)-endoxifen. In 192 Brazilian patients, we assessed plasma levels of tamoxifen and its metabolites at 3, 6, and 12 months of treatment (LC-MS/MS), adherence behavior (Morisky Medication Adherence Scale), and CYP2D6 and other pharmacogene polymorphisms (MALDI-TOF mass spectrometry and real-time PCR). Adherence explained 47% of the variability of tamoxifen plasma concentrations (p<0.001). While CYP2D6 alone explained 26.4%, the combination with adherence explained 40% of (Z)-endoxifen variability at 12 months (p<0.001). The influence of low adherence not to achieving relevant (Z)-endoxifen levels was the highest in patients with non-compromised CYP2D6 function (RR 3.65, 95%CI 1.48–8.99). As a proof-of-concept, we demonstrated that (Z)-endoxifen levels are influenced by patient adherence to both tamoxifen and CYP2D6, which is particularly relevant for patients with full CYP2D6 function.
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Zemlyanukhina, O. A., et E. N. Vasilchenko. « Comparative investigаtion of the physiological and biochemical properties of Beta vulgaris L. haploid lines ». Dans CURRENT STATE, PROBLEMS AND PROSPECTS OF THE DEVELOPMENT OF AGRARIAN SCIENCE. Federal State Budget Scientific Institution “Research Institute of Agriculture of Crimea”, 2020. http://dx.doi.org/10.33952/2542-0720-2020-5-9-10-91.
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The aim of the work was to study the isoenzyme spectra of several lines of haploid regenerants of sugar beet in comparison with the parent forms in order to identify the most interesting ones for further selection. The donor material was the MS-form (malesterile form), haploid lines derived from it, as well as the fertile donor and its haploid lines.It was shown that the spectra of two enzymes − isocitrate dehydrogenase and malic enzyme are polymorphic, and the enzyme 6-phosphogluconate dehydrogenase is monomorphic and cannot be used in further selection.
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Lynn, Jack D. « Applying a Geologist's Tools to Decipher Scaling History : Integration of Mineralogy, Morphology, and Polymorphic Differentiation ». Dans International Petroleum Technology Conference. International Petroleum Technology Conference, 2013. http://dx.doi.org/10.2523/17012-ms.
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Lynn, Jack D. « Applying a Geologist's Tools to Decipher Scaling History : Integration of Mineralogy, Morphology, and Polymorphic Differentiation ». Dans International Petroleum Technology Conference. International Petroleum Technology Conference, 2013. http://dx.doi.org/10.2523/iptc-17012-ms.
Texte intégralRapports d'organisations sur le sujet "Ms polymorphism"
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Levisohn, Sharon, Maricarmen Garcia, David Yogev et Stanley Kleven. Targeted Molecular Typing of Pathogenic Avian Mycoplasmas. United States Department of Agriculture, janvier 2006. http://dx.doi.org/10.32747/2006.7695853.bard.
Texte intégralRésumé :
Intraspecies identification (DNA "fingerprinting") of pathogenic avian mycoplasmas is a powerful tool for epidemiological studies and monitoring strain identity. However the only widely method available for Mycoplasma gallisepticum (MG) and M. synoviae (MS)wasrandom amplified polymorphic DNA (RAPD). This project aimed to develop alternative and supplementary typing methods that will overcome the major constraints of RAPD, such as the need for isolation of the organism in pure culture and the lack of reproducibility intrinsic in the method. Our strategy focussed on recognition of molecular markers enabling identification of MG and MS vaccine strains and, by extension, pathogenic potential of field isolates. Our first aim was to develop PCR-based systems which will allow amplification of specific targeted genes directly from clinical material. For this purpose we evaluated the degree of intraspecies heterogeneity in genes encoding variable surface antigens uniquely found in MG all of which are putative pathogenicity factors. Phylogenic analysis of targeted sequences of selected genes (pvpA, gapA, mgc2, and lp) was employed to determine the relationship among MG strains.. This method, designated gene targeted sequencing (GTS), was successfully employed to identify strains and to establish epidemiologically-linked strain clusters. Diagnostic PCR tests were designed and validated for each of the target genes, allowing amplification of specific nucleotide sequences from clinical samples. An mgc2-PCR-RFLP test was designed for rapid differential diagnosis of MG vaccine strains in Israel. Addressing other project goals, we used transposon mutagenesis and in vivo and in vitro models for pathogenicity to correlated specific changes in target genes with biological properties that may impact the course of infection. An innovative method for specific detection and typing of MS strains was based on the hemagglutinin-encoding gene vlhA, uniquely found in this species. In parallel, we evaluated the application of amplified fragment length polymorphism (AFLP) in avian mycoplasmas. AFLP is a highly discriminatory method that scans the entire genome using infrequent restriction site PCR. As a first step the method was found to be highly correlated with other DNA typing methods for MG species and strain differentiation. The method is highly reproducible and relatively rapid, although it is necessary to isolate the strain to be tested. Both AFLP and GTS are readily to amenable to computer-assisted analysis of similarity and construction of a data-base resource. The availability of improved and diverse tools will help realize the full potential of molecular typing of avian mycoplasmas as an integral and essential part of mycoplasma control programs.
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Levisohn, Sharon, Mark Jackwood et Stanley Kleven. New Approaches for Detection of Mycoplasma iowae Infection in Turkeys. United States Department of Agriculture, février 1995. http://dx.doi.org/10.32747/1995.7612834.bard.
Texte intégralRésumé :
Mycoplasma iowae (Mi) is a pathogenic avian mycoplasma which causes mortality in turkey embryos and as such has clinical and economic significance for the turkey breeder industry. Control of Mi infection is severely hampered by lack of adequate diagnostic tests, together with resistance to most antibiotics and resilience to environment. A markedly high degree of intra-species antigenic variation also contributes to difficulties in detection and control of infection. In this project we have designed an innovative gene-based diagnostic test based on specific amplification of the 16S rRNA gene of Mi. This reaction, designed Multi-species PCR-RFLP test, also amplifies the DNA of the pathogenic avian mycoplasmas M. gallisepticum (Mg) and M. synoviae (Ms). This test detects DNA equivalent to about 300 cfu Mi or either of the other two target mycoplasmas, individually or in mixed infection. It is a quick test, applicable to a wide variety of clinical samples, such as allantoic fluid or tracheal or cloacal swab suspensions. Differential diagnosis is carried out by gel electro-phoresis of the PCR amplicon digested with selected restriction enzymes (Restriction Fragment Length Polymorphism). This can also be readily accomplished by using a simple Dot-Blot hybridization assay with digoxigenin-labeled oligonucleotide probes reacting specifically with unique Mi, Mg or Ms sequences in the PCR amplicon. The PCR/OLIGO test increased sensitivity by at least 10-fold with a capacity for rapid testing of large numbers of samples. Experimental infection trials were carried out to evaluate the diagnostic tools and to study pathogenesis of Mi infection. Field studies and experimental infection of embryonated eggs indicated both synergistic and competitive interaction of mycoplasma pathogens in mixed infection. The value of the PCR diagnostic tests for following the time course of egg transmission was shown. A workable serological test (Dot Immunobinding Assay) was also developed but there was no clear-cut evidence that infected turkeys develop an immune response. Typing of a wide spectrum of Mi field isolates by a variety of gene-based molecular techniques indicated a higher degree of genetic homogeneity than predicted on the basis of the phenotypic variability. All known strains of Mi were detected by the method developed. Together with an M. meleagridis-PCR test based on the same gene, the Multi-species PCR test is a highly valuable tool for diagnosis of pathogenic mycoplasmas in single or mixed infection. The further application of this rapid and specific test as a part of Mi and overall mycoplasma control programs will be dependent on developments in the turkey industry.