Academic literature on the topic 'Polymorphism'

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Journal articles on the topic "Polymorphism"

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Guzmán-Ornelas, Milton-Omar, Marcelo Heron Petri, Mónica Vázquez-Del Mercado, Efraín Chavarría-Ávila, Fernanda-Isadora Corona-Meraz, Sandra-Luz Ruíz-Quezada, Perla-Monserrat Madrigal-Ruíz, Jorge Castro-Albarrán, Flavio Sandoval-García, and Rosa-Elena Navarro-Hernández. "CCL2 Serum Levels and Adiposity Are Associated with the Polymorphic Phenotypes -2518A on CCL2 and 64ILE on CCR2 in a Mexican Population with Insulin Resistance." Journal of Diabetes Research 2016 (2016): 1–11. http://dx.doi.org/10.1155/2016/5675739.

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Genetic susceptibility has been described in insulin resistance (IR). Chemokine (C-C motif) ligand-2 (CCL2) is overexpressed in white adipose tissue and is the ligand of C-C motif receptor-2 (CCR2). TheCCL2G-2518A polymorphism is known to regulate gene expression, whereas the physiological effects of theCCR2Val64Ile polymorphism are unknown. The aim of the study is to investigate the relationship between these polymorphisms with soluble CCL2 levels (sCCL2), metabolic markers, and adiposity. In a cross-sectional study we included 380 Mexican-Mestizo individuals, classified with IR according to Stern criteria. Polymorphism was identified using PCR-RFLP/sequence-specific primers. Anthropometrics and metabolic markers were measured by routine methods and adipokines and sCCL2 by ELISA. The CCL2 polymorphism was associated with IR (polymorphicA+phenotype frequencies were 70.9%, 82.6%, in individuals with and without IR, resp.). Phenotype carriers CCL2 (A+) displayed lower body mass and fat indexes, insulin and HOMA-IR, and higher adiponectin levels. Individuals with IR presented higher sCCL2 compared to individuals without IR and was associated with CCR2 (Ile+) phenotype. The double-polymorphic phenotype carriers (A+/Ile+) exhibited higher sCCL2 than double-wild-type phenotype carriers (A−/Ile−). The present findings suggest that sCCL2 production possibly will be associated with the adiposity and polymorphic phenotypes ofCCL2andCCR2, in Mexican-Mestizos with IR.
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Troitskaya, N. I., K. G. Shapovalov, and V. A. Mudrov. "Analysis of the association of polymorphisms of genes markers functions of endothelium and vascular-plate hemostasis with development of diabetic foot syndrome." Acta Biomedica Scientifica 6, no. 4 (October 17, 2021): 18–26. http://dx.doi.org/10.29413/abs.2021-6.4.2.

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The aim. To study the prevalence of various combinations of polymorphic variants of genes markers of endothelial function and vascular-platelet hemostasis in the development of diabetic foot syndrome.Materials and methods. In 198 patients with uncomplicated diabetes mellitus and 199 patients with diabetic foot syndrome, the frequency of polymorphic variants of the NOS 786C>T, END1 Lys198Asn, ITGB3 1565T>C (Leu33Pro), F5 1691G>A, F2 20210G>A, MMP9 8202A>G, MTHFR 1298A>C, VEGFA-634C>G genes was studied. Using binary logistic regression analysis, the relationship of various combinations of polymorphisms of the studied genes with the development of diabetic foot was assessed.Results. In diabetic foot syndrome, the most significant contribution is made by the combination of polymorphic variants of the ITGB3 1565T>C (Leu33Pro) and MTHFR 1298A>C genes. With the development of this complication of diabetes mellitus, a combination of the 1565 TC polymorphism of gene ITGB3 and the 1298AA polymorphism of gene MTHFR is 2.1 times more common. The association of the 1565TT polymorphism of gene ITGB3 and the 1298AC polymorphism of gene MTHFR is 2 times more common in diabetes mellitus without complications.Conclusion. The combination of the 1565TС polymorphism of gene ITGB3 and the 1298АА polymorphism of gene MTHFR is associated with the risk of developing a diabetic foot and increases the risk of developing this complication by 2.4 times. The presence of a combination of the 1565TT polymorphisms of gene ITGB3 and the 1298AC polymorphism of gene MTHFR is more common in uncomplicated diabetes mellitus, which suggests its protective effect against the development of diabetic foot syndrome.
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Holland, J. B., S. J. Helland, N. Sharopova, and D. C. Rhyne. "Polymorphism of PCR-based markers targeting exons, introns, promoter regions, and SSRs in maize and introns and repeat sequences in oat." Genome 44, no. 6 (December 1, 2001): 1065–76. http://dx.doi.org/10.1139/g01-110.

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Sequence databases could be efficiently exploited for development of DNA markers if it were known which gene regions reveal the most polymorphism when amplified by PCR. We developed PCR primer pairs that target specific regions of previously sequenced genes from Avena and Zea species. Primers were targeted to amplify 40 introns, 24 exons, and 23 promoter regions within 54 maize genes. We surveyed 48 maize inbred lines (previously assayed for simple-sequence repeat (SSR) polymorphism) for amplification-product polymorphism. We also developed primers to target 14 SSRs and 12 introns within 18 Avena genes, and surveyed 22 hexaploid oat cultivars and 2 diploid Avena species for amplification-product polymorphism. In maize, 67% of promoter markers, 58% of intron markers, and 13% of exon markers exhibited amplification-product polymorphisms. Among polymorphic primer pairs in maize, genotype diversity was highest for SSR markers (0.60) followed by intron markers (0.46), exon markers (0.42), and promoter markers (0.28). Among all Avena genotypes, 64% of SSR markers and 58% of intron markers revealed polymorphisms, but among the cultivars only, 21% of SSR markers and 50% of intron markers were polymorphic. Polymorphic-sequence-tagged sites for plant-breeding applications can be created easily by targeting noncoding gene regions.Key words: Avena, Zea, genetic diversity, DNA sequence.
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Leus, Frank, Bonno Bouma, Herman van Rijn, and Janke Prins. "The Identification of Polymorphisms in the Coding Region of the Apolipoprotein (a) Gene." Thrombosis and Haemostasis 82, no. 12 (1999): 1709–17. http://dx.doi.org/10.1055/s-0037-1614903.

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SummaryLipoprotein (a) [Lp(a)] is a quantitative genetic trait in human plasma and elevated levels represent a major inherited risk factor for the development of atherosclerotic disease. In our search for sequence polymorphisms in the coding region of the apolipoprotein(a) [apo(a)] gene that may affect the Lp(a) concentration, four new polymorphic sites were identified. These include two coinciding polymorphisms with an allele frequency of 38% located at amino acid positions 87 and 101 (Leu87,101 →Val) in the interkringle region of kringle IV (K.IV) type 7 and two polymorphisms located in K.IV type 7 (Arg60 →Ser) and in K.IV type 10 (Tyr2 →Phe) both with estimated allele frequencies of about 1%.The linkage between the newly identified K.IV type 7 Leu87,101 →Val polymorphism and earlier described polymorphic sites in the non-coding and coding regions of the apo(a) gene, its distribution over the apo(a) isoform sizes and its possible influence on the Lp(a) concentration was analysed in 201 healthy unrelated Caucasians. The earlier described polymorphic sites included in this study were the variable number of a TTTTA pentanucleotide repeat (7-11 PNR) starting at -1231 bp, the -772 bp G/A polymorphism, the +93 bp C/T polymorphism and the +121 bp G/A polymorphism in the non-coding region, and the K.IV type 8 Thr12/Pro polymorphism and the K.IV type 10 Thr66/Met polymorphism in the coding region of the apo(a) gene.Linkage disequilibria were observed between the polymorphic sites in the 5’ non-coding region and the sites in K.IV type 7 and 8 in the coding region of the apo(a) gene, confirming that the expansion of the variable number of K.IV type 2 repeats results from intrachromosomal recombinational events. The distribution over the apo(a) isoform sizes of the K.IV type 7 Val87,101 subtype was not significantly different from that of the K.IV type 7 Leu87,101 wild-type, suggesting a relative ancient mutational event. No influence of the K.IV type 7 Leu87,101 →Val polymorphism on the Lp(a) level was observed. In fact, of all the polymorphic sites studied, only the +121 A subtype could be associated with an increased, and the K.IV type 8 Pro12 and the 10 PNR subtypes with a reduced, Lp(a) concentration corrected for apo(a) isoform size (p <0.05).
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Tsai, Ming-Kai, Hui-Min David Wang, Jeng-Chuan Shiang, I.-Hung Chen, Chih-Chiang Wang, Ya-Fen Shiao, Wen-Sheng Liu, Tai-Jung Lin, Tsung-Ming Chen, and Ya-Huey Chen. "Sequence Variants ofADIPOQand Association with Type 2 Diabetes Mellitus in Taiwan Chinese Han Population." Scientific World Journal 2014 (2014): 1–7. http://dx.doi.org/10.1155/2014/650393.

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Diabetes is a serious global health problem. Large-scale genome-wide association studies identified loci for type 2 diabetes mellitus (T2DM), including adiponectin (ADIPOQ) gene and transcription factor 7-like 2 (TCF7L2), but few studies clarified the effect of genetic polymorphisms ofADIPOQandTCF7L2on risk of T2DM. We attempted to elucidate association between T2DM and polymorphic variations of both in Taiwan’s Chinese Han population, with our retrospective case-control study genotyping single nucleotide polymorphisms (SNPs) inADIPOQandTCF7L2genes both in 149 T2DM patients and in 139 healthy controls from Taiwan. Statistical analysis gauged association of these polymorphisms with risk of T2DM to showADIPOQrs1501299 polymorphism variations strongly correlated with T2DM risk(P=0.042), with rs2241766 polymorphism being not associated with T2DM(P=0.967). However, both polymorphisms rs7903146 and rs12255372 ofTCF7L2were rarely detected in Taiwanese people. This study avers thatADIPOQrs1501299 polymorphism contributes to risk of T2DM in the Taiwanese population.
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Takahashi, Yuma, and Suzuki Noriyuki. "Colour polymorphism influences species' range and extinction risk." Biology Letters 15, no. 7 (July 2019): 20190228. http://dx.doi.org/10.1098/rsbl.2019.0228.

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Polymorphisms in a population are expected to increase the growth rate and the stability of the population, leading to the expansion of geographical distribution and mitigation of extinction risk of a species. However, the generality of such ecological consequences of colour polymorphism remains uncertain. Here, via a comparative approach, we assessed whether colour polymorphisms influence climatic niche breadth and extinction risk in some groups of damselflies, butterflies and vertebrates. The climatic niche breadth was greater, and extinction risk was lower in polymorphic species than in monomorphic species in all taxa analysed. The results suggest that colour polymorphism facilitates range expansion and species persistence.
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Wróbel-Dudzińska, Dominika, Ewa Kosior-Jarecka, Urszula Łukasik, Janusz Kocki, Agnieszka Witczak, Jerzy Mosiewicz, and Tomasz Żarnowski. "Risk Factors in Normal-Tension Glaucoma and High-Tension Glaucoma in relation to Polymorphisms of Endothelin-1 Gene and Endothelin-1 Receptor Type A Gene." Journal of Ophthalmology 2015 (2015): 1–12. http://dx.doi.org/10.1155/2015/368792.

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The aimof the research is to analyse the influence of polymorphisms of endothelin-1 gene and endothelin-1 receptor type A gene on the clinical condition of patients with primary open angle glaucoma.Methods. 285 Polish patients took part in the research (160 normal-tension glaucoma and 125 high-tension glaucoma). DNA was isolated by standard methods and genotype distributions of four polymorphisms in genes encoding endothelin-1 (K198N) and endothelin-1 receptor type A polymorphisms (C1222T, C70G, and G231A) were determined. Genotype distributions were compared between NTG and HTG groups. The clinical condition of participants was examined for association with polymorphisms.Results. A similar frequency of occurrence of the polymorphic varieties of the studied genes was observed in patients with NTG and HTG. There is no relation between NTG risk factors and examined polymorphisms. NTG patients with TT genotype of K198N polymorphism presented with the lowest intraocular pressure in comparison to GG + GT genotype (p=0.03). In NTG patients with CC genotype of C1222T polymorphism (p=0.028) and GG of C70G polymorphism (p=0.03) the lowest values of mean blood pressure were observed.Conclusions. The studied polymorphic varieties (K198N, C1222T) do have an influence on intraocular pressure as well as arterial blood pressure in NTG patients.
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Ignatenko, Grigory A., Natalia A. Reznichenko, Pavel N. Fedulichev, Eduard A. Maylyan, and Zaira F. Kharaeva. "Polymorphisms of genes of interleukin-6 and alpha-1 chain of collagen type 1 in postmenopausal women with knee osteoarthritis." Medical academic journal 23, no. 3 (March 29, 2024): 31–40. http://dx.doi.org/10.17816/maj375358.

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BACKGROUND: To date in the Russian Federation insufficient attention has been paid to the study of IL6 and COL1A1 gene polymorphisms role in the development of knee osteoarthritis. And the results of the single carried out to date studies, devoted to the research of polymorphic variants of the above genes influence on the osteoarthritis development, are insufficient for substantiated conclusions. AIM: To study the frequency of alleles and genotypes of the IL6 gene rs1800795 polymorphism and COL1A1 gene rs1107946 and rs1800012 polymorphisms in postmenopausal women with knee osteoarthritis. MATERIALS AND METHODS: The results of 157 postmenopausal women survey with knee osteoarthritis were selected and analyzed. The control group consisted of 326 women of the same age without signs of joint disease. The study of polymorphisms rs1800795, rs1107946 and rs1800012 was performed by real-time polymerase chain reaction. RESULTS: The conducted studies showed that in the general group of examined women the frequency of all three studied polymorphisms genotypes registration corresponded to the Hardy-Weinberg law. An uneven (p = 0.043) distribution of rs1800795 polymorphism genotypes was found in the group of women with osteoarthritis and in the control group in the study of the IL6 gene polymorphic variants frequency detection. This difference was due to more frequent GG genotype registration of the above polymorphism (odds ratio = 1.75; 95% confidence interval: 1.12–2.72; p = 0.021) among women with knee osteoarthritis. Associations of rs1107946 and rs1800012 COL1A1 gene polymorphisms were not found (p 0.05). CONCLUSIONS: An association between GG genotype of the IL6 gene rs1800795 polymorphism and knee osteoarthritis in postmenopausal women has been established. Genotypes and alleles of COL1A1 gene rs1107946 and rs1800012 polymorphisms were not associated with joint disease.
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Saleh, Muhammad Irsan, Rizki Andini Nawawi, and Subandrate Subandrate. "POLYMORPHISMS OF THE PROGESTERONE RECEPTOR GENE IN ENDOMETRIOSIS PATIENTS OF SOUTH SUMATRA, INDONESIA." Jurnal Kedokteran dan Kesehatan : Publikasi Ilmiah Fakultas Kedokteran Universitas Sriwijaya 9, no. 2 (May 9, 2022): 213–18. http://dx.doi.org/10.32539/jkk.v9i2.17508.

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Polymorphisms of the progesterone receptor gene alter the expressions of two receptor isoforms involved in the regulation of progesterone's antiproliferative effect in endometriotic tissue. This study aims to identify the +331G/A polymorphism of the progesterone receptor gene in endometriosis patients in Palembang, South Sumatra. Identification of +331G/A single-nucleotide polymorphism (SNP) was conducted on 42 endometriosis patients through polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). In this study, twenty-six (61.9%) subjects had heterozygous mutant genotype for the +331G/A SNP. No subject with homozygous mutant genotype for the +331G/A polymorphism was identified. The frequencies of polymorphic alleles for the +331G/A polymorphism was 30.9%. In conclusion, the +331G/A progesterone receptor gene polymorphism was present in endometriosis patients in Palembang, South Sumatra. This finding may warrant further studies to determine whether this polymorphism play a role in the development of endometriosis in the Indonesian population.
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Ravel, Catherine, Sébastien Praud, Alain Murigneux, Aurélie Canaguier, Frédéric Sapet, Delphine Samson, François Balfourier, et al. "Single-nucleotide polymorphism frequency in a set of selected lines of bread wheat (Triticum aestivum L.)." Genome 49, no. 9 (September 2006): 1131–39. http://dx.doi.org/10.1139/g06-067.

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Information on single-nucleotide polymorphisms (SNPs) in hexaploid bread wheat is still scarce. The goal of this study was to detect SNPs in wheat and examine their frequency. Twenty-six bread wheat lines from different origins worldwide were used. Specific PCR-products were obtained from 21 genes and directly sequenced. SNPs were discovered from the alignment of these sequences. The overall sequence polymorphism observed in this sample appears to be low; 64 single-base polymorphisms were detected in ~21.5 kb (i.e., 1 SNP every 335 bp). The level of polymorphism is highly variable among the different genes studied. Fifty percent of the genes studied contained no sequence polymorphism, whereas most SNPs detected were located in only 2 genes. As expected, taking into account a synthetic line created with a wild Triticum tauschii parent increases the level of polymorphism (101 SNPs; 1 SNP every 212 bp). The detected SNPs are available at http://urgi.versailles.inra.fr/GnpSNP . Data on linkage disequilibrium (LD) are still preliminary. They showed a significant level of LD in the 2 most polymorphic genes. To conclude, the genome size of hexaploid wheat and its low level of polymorphism complicate SNP discovery in this species.
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Dissertations / Theses on the topic "Polymorphism"

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Balasubramaniam, Dharini. "Extension polymorphism." Thesis, University of St Andrews, 1998. http://hdl.handle.net/10023/13495.

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Any system that models a real world application has to evolve to be consistent with its changing domain. Dealing with evolution in an effective manner is particularly important for those systems that may store large amounts of data such as databases and persistent languages. In persistent programming systems, one of the important issues in dealing with evolution is the specification of code that will continue to work in a type safe way despite changes to type definitions. Polymorphism is one mechanism which allows code to work over many types. Inclusion polymorphism is often said to be a model of type evolution. However, observing type changes in persistent systems has shown that types most commonly exhibit additive evolution. Even though inclusion captures this pattern in the case of record types, it does not always do so for other type constructors. The confusion of subtyping, inheritance and evolution often leads to unsound or at best, dynamically typed systems. Existing solutions to this problem do not completely address the requirements of type evolution in persistent systems. The aim of this thesis is to develop a form of polymorphism that is suitable for modelling additive evolution in persistent systems. The proposed strategy is to study patterns of evolution for the most generally used type constructors in persistent languages and to define a new relation, called extension, which models these patterns. This relation is defined independent of any existing relations used for dealing with evolution. A programming language mechanism is then devised to provide polymorphism over this relation. The polymorphism thus defined is called extension polymorphism. This thesis presents work involving the design and definition of extension polymorphism and an implementation of a type checker for this polymorphism. A proof of soundness for a type system which supports extension polymorphism is also presented.
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McLure, Craig Anthony. "Duplication and polymorphism with particular reference to regulators of complement activation." University of Western Australia. Centre for Molecular Immunology and Instrumentation, 2005. http://theses.library.uwa.edu.au/adt-WU2005.0103.

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[Truncated abstract] For the convenience of the reader, detailed figures and tables have been enlarged and compiled in Appendix 2, at the end of this thesis. This thesis is presented as an approach to identify, annotate and detect genomic duplication and polymorphism within large genomic regions. To demonstrate this, I have used as a model, the genomic region known as the Regulators of Complement Activation (RCA). The RCA complex is located on the long arm of chromosome 1 at position 1q32 and is a reservoir of complement regulatory proteins. The genes of the RCA share many similarities implying that all have arisen through multiple complex duplication events. My analysis of this region in the following chapters demonstrates the complexity of this duplication and identifies the many functional units within the RCA. It was my aim at the beginning of these studies to demonstrate an approach that could define the Ancestral Haplotypes (AHs) of the RCA gene cluster. To do this, extensive genomic analysis was required and the ever-increasing availability of genomic sequence has made this thesis possible. Each of the chapters serves to address the following aims set out at the beginning of this thesis: 1. Further characterise the relationship between the genes (Complement Control proteins-CCPs) and domains of the Regulators of Complement Activation (RCA). 2. Identify and examine the duplicated elements within the RCA. - 6 - 3. Examine the effects of retroviruses and other insertions and deletions (indels) in generating the divergence of duplicated genes. 4. Investigate the applicability of the Genomic Matching Technique (GMT) to define AH within the region. 5. Examine association of AHs with CCP implicated diseases. 6. Determine the GMT applicability in non-human species
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Li, Wenjing. "Nucléation non-photochimique induite par laser (NPLIN) : Contribution au mécanisme de nucléation à travers des études expérimentales sur le sulfathiazole, L-acide glutamique et la glycine et la modélisation de quelques petites molécules." Thesis, Université Paris-Saclay (ComUE), 2016. http://www.theses.fr/2016SACLC019.

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Cette thèse a pour but de démontrer la faisabilité de la technique de Nucléation non-Photochimique Induite par Laser (NPLIN) appliquée aux composés pharmaceutiques organiques. Avec nos résultats expérimentaux, ceux obtenus dans la littérature et calculs théoriques ab initio, nous avons discuté du mécanisme de la méthode NPLIN.Cette thèse a décrit en premier lieu, le nouveau montage expérimental semi-automatisé adapté aux exigences des études NPLIN développé à CentraleSupelec. Des expériences NPLIN sur le sulfathiazole (STZ), l-acid glutamique (LGA) et la glycine (GLY) sont menées pour étudier l’impact des paramètres du laser et de la sursaturation des solutions sur leur cristallisation. Les résultats expérimentaux montrent que la technique NPLIN permet d’obtenir des cristaux de STZ, LGA and GLY. L’efficacité de la nucléation croit avec l’augmentation de la densité d’énergie du laser et de la sursaturation. Un indice nouveau Ind50 a été défini correspondant au couple densité d’énergie/sursaturation où 50% nucléation est atteinte. Son comportement est discuté. Il est trouvé que le nombre cristaux STZ induits par laser dépend linéairement avec le temps d’irradiation. Une dépendance du polymorphe des cristaux induit par le laser avec la polarisation du faisceau laser est également découvert pour STZ et GLY. Un autre indice Det(A) est utilisé pour caractériser l’impact de la polarisation sur le polymorphisme. Des calculs théoriques ab initio par le logiciel Gaussian09 permettent de donner une estimation des énergies d’interaction des différents dimères pour des polymorphes de STZ, LGA, GLY, l-histidine (LH) et urée. L’empilement des molécules dans les clusters pré-existant est prédit en accord avec la détermination des énergies d’interaction. L’analyse de corrélation entre la symétrie d’empilement et des résultats expérimentaux souligne l’hypothèse de l’effet Kerr pour expliquer cet impact de la polarisation du faisceau laser sur le polymorphisme
This thesis concerns the demonstration of the feasibility of Non-Photochemical Laser Induced Nucleation (NPLIN) of some organic pharmaceutical compounds. Using our experimental results and those obtained in literature together with ab initio theoretical calculations we have been able to discuss the mechanism of the NPLIN method.This thesis presents a new experimental set-up developed at CentraleSupelec and dedicated to perform NPLIN experiments. NPLIN experiments on sulfathiazole (STZ), l-glutamic acid (LGA) and glycine (GLY) have been carried out to examine the impact of laser parameters and solution supersaturation on their crystallization. Experimental results show that crystals of STZ, LGA and GLY have been obtained by means of NPLIN. For these compounds, nucleation efficiency increases with laser power density and solution supersaturation. A new index Ind50 corresponding to the couple (energy density/supersaturation) where 50% of nucleation is teached, has been defined. Its behavior has been discussed. It was found that laser induced STZ crystal number depends almost linearly on exposure duration. Moreover, for STZ and GLY, a dependance of laser induced crystal polymorph on laser polarization has been found. Another new index Det(A), has been used for characterization of the impact of the polymorphism. Ab initio quantum computations using Gaussian09, provided an interaction energy estimate for different dimers in different polymorphs of STZ, LGA, GLY, l-histidine (LH) and urea. Packing mode in pre-existing clusters is predicted in agreement with interaction energy determinations. Correlation analysis between packing symmetry and experimental results, shed new light on the Kerr effect hypothesis relative to the impact of laser polarization on polymorphism
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Lamarche, François 1955. "Modelling polymorphism with categories." Thesis, McGill University, 1988. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=75961.

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In this work we describe a category of domains, whose objects are in general categories instead of posets, such that J.-Y. Girard's category of qualitative domains and stable functions is contained in it as a full subcategory. We describe two ways of interpreting Martin-Lof type theory in this category, the first one allowing $ Sigma$ and $ Pi$, the second one only $ Pi$. Finally we show how to extend the second interpretation to a model of the theory of constructions.
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Bano, Anthony M. "Polymorphism in biomineral nanoparticles." Thesis, University of Warwick, 2012. http://wrap.warwick.ac.uk/49891/.

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Biomineralisation is the process by which living things produce hard mineral tissues with unique physical properties. The study of this process can help us produce biomimetic materials, reproducing such properties, with the study of nucleation and crystallisation of the materials being particularly important. I have used molecular simulation techniques to help gain a greater understanding of these processes, focussing particularly on identifying the conformations and solid phases available to nanoparticles of two biomineral compounds. The bones and teeth of mammals are made largely of calcium phosphates. I have used metadynamics to study nanoparticles of tricalcium phosphate (TCP) and have identified high and lower order configurations. To facilitate this work I reviewed the extant empirical potentials for calcium phosphate systems, selecting the most appropriate for TCP. Calcium carbonate, found in examples throughout the animal kingdom, has three crystalline polymorphs relevant to biomineralisation: calcite, aragonite and vaterite. While nanoparticles of calcite have been extensively studied the other polymorphs have been neglected to date. In this work I present a technique for predicting crystalline morphologies for all three polymorphs across a range of sizes, and compare the energetic ordering. In water the energetic ordering of the nanoparticles is heavily dependent on nanoparticle size. Furthermore, I present work calculating the surface enthalpies of a variety of calcium carbonate surfaces, many of which are negative. It appears that entropic penalty of ordered water is key to understanding the stability of nanocrystals. Also presented is an application of the nudged elastic band method to study transitions between nanoparticle crystal conformations. Between all three crystal polymorphs the nanoparticles passed through an amorphous region of phase space. These results have also been used to evaluate order parameters for use in metadynamics simulations.
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Wilkie, Susan Elizabeth. "DNA polymorphism in Allium." Thesis, University of Hertfordshire, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.332242.

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Pidvysotska, N. I. "Polymorphism of Edwards syndrome." Thesis, БДМУ, 2017. http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/17149.

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Maneggia, Paola. "Models of linear polymorphism." Thesis, University of Birmingham, 2004. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.414964.

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Saraph, A. "Nucleotide polymorphism in schizophrenia." Thesis(Ph.D.), CSIR-National Chemical Laboratory, Pune, 2002. http://dspace.ncl.res.in:8080/xmlui/handle/20.500.12252/2774.

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Zhang, Shuohao. "Supporting polymorphism in XML data." Online access for everyone, 2006. http://www.dissertations.wsu.edu./Dissertations/Summer2006/s%5Fzhang%5F071906.pdf.

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Books on the topic "Polymorphism"

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Stanley, H. Eugene, ed. Liquid Polymorphism. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2013. http://dx.doi.org/10.1002/9781118540350.

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Danks, H. V., ed. Insect life-cycle polymorphism. Dordrecht: Springer Netherlands, 1994. http://dx.doi.org/10.1007/978-94-017-1888-2.

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Hamilton, W. D., and J. C. Howard, eds. Infection, Polymorphism and Evolution. Dordrecht: Springer Netherlands, 1996. http://dx.doi.org/10.1007/978-94-009-0077-6.

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Aga, Syed Sameer, Mujeeb Zafar Banday, and Saniya Nissar. Genetic Polymorphism and Disease. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/9781003246244.

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Bernstein, Joel. Polymorphism in molecular crystals. Oxford: Oxford University Press, 2007.

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Meseguer, José. Relating models of polymorphism. Stanford, CA (Ventura Hall, Stanford 94305): Center for the Study of Language and Information, 1988.

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G, Brittain H., ed. Polymorphism of pharmaceutical solids. 2nd ed. New York: Informa Healthcare, 2009.

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G, Brittain H., ed. Polymorphism in pharmaceutical solids. New York: M. Dekker, 1999.

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Sameer, Aga Syed, Mujeeb Zafar Banday, and Saniya Nissar, eds. Genetic Polymorphism and cancer susceptibility. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-33-6699-2.

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Hilfiker, Rolf, and Markus von Raumer, eds. Polymorphism in the Pharmaceutical Industry. Weinheim, Germany: Wiley-VCH Verlag GmbH & Co. KGaA, 2018. http://dx.doi.org/10.1002/9783527697847.

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Book chapters on the topic "Polymorphism"

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Hilfiker, Rolf, Fritz Blatter, and Markus von Raumer. "Relevance of Solid-state Properties for Pharmaceutical Products." In Polymorphism, 1–19. Weinheim, FRG: Wiley-VCH Verlag GmbH & Co. KGaA, 2006. http://dx.doi.org/10.1002/3527607889.ch1.

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Petit, Samuel, and Gérard Coquerel. "The Amorphous State." In Polymorphism, 259–85. Weinheim, FRG: Wiley-VCH Verlag GmbH & Co. KGaA, 2006. http://dx.doi.org/10.1002/3527607889.ch10.

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Hilfiker, Rolf, Susan M. De Paul, and Martin Szelagiewicz. "Approaches to Polymorphism Screening." In Polymorphism, 287–308. Weinheim, FRG: Wiley-VCH Verlag GmbH & Co. KGaA, 2006. http://dx.doi.org/10.1002/3527607889.ch11.

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Stahl, Peter Heinrich, and Bertrand Sutter. "Salt Selection." In Polymorphism, 309–32. Weinheim, FRG: Wiley-VCH Verlag GmbH & Co. KGaA, 2006. http://dx.doi.org/10.1002/3527607889.ch12.

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Govindarajan, Ramprakash, and Raj Suryanarayanan. "Processing-induced Phase Transformations and Their Implications on Pharmaceutical Product Quality." In Polymorphism, 333–64. Weinheim, FRG: Wiley-VCH Verlag GmbH & Co. KGaA, 2006. http://dx.doi.org/10.1002/3527607889.ch13.

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Bernstein, Joel. "Polymorphism and Patents from a Chemist's Point of View [1]." In Polymorphism, 365–84. Weinheim, FRG: Wiley-VCH Verlag GmbH & Co. KGaA, 2006. http://dx.doi.org/10.1002/3527607889.ch14.

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Miller, Stephen P. F., Andre S. Raw, and Lawrence X. Yu. "Scientific Considerations of Pharmaceutical Solid Polymorphism in Regulatory Applications." In Polymorphism, 385–403. Weinheim, FRG: Wiley-VCH Verlag GmbH & Co. KGaA, 2006. http://dx.doi.org/10.1002/3527607889.ch15.

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Lohani, Sachin, and David J. W. Grant. "Thermodynamics of Polymorphs." In Polymorphism, 21–42. Weinheim, FRG: Wiley-VCH Verlag GmbH & Co. KGaA, 2006. http://dx.doi.org/10.1002/3527607889.ch2.

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Craig, Duncan Q. M. "Characterization of Polymorphic Systems Using Thermal Analysis." In Polymorphism, 43–79. Weinheim, FRG: Wiley-VCH Verlag GmbH & Co. KGaA, 2006. http://dx.doi.org/10.1002/3527607889.ch3.

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Lubach, Joseph W., and Eric J. Munson. "Solid-state NMR Spectroscopy." In Polymorphism, 81–93. Weinheim, FRG: Wiley-VCH Verlag GmbH & Co. KGaA, 2006. http://dx.doi.org/10.1002/3527607889.ch4.

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Conference papers on the topic "Polymorphism"

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Chan, Vivian, V. W. S. Liu, A. C. K. Wong, and T. K. Chan. "DNA POLYMORPHISMS IN OR LINKED TO THE FACTOR VIII GENE IN CHINESE." In 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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Karasev, E. P., E. E. Andronov, E. P. Chizevskaya, and N. A. Provorov. "Comparative analysis of nucleotide polymorphism of chromosomal and symbiotic genes in symbionts of eastern and medical goat’s rue from a population of the North Caucasus." In 2nd International Scientific Conference "Plants and Microbes: the Future of Biotechnology". PLAMIC2020 Organizing committee, 2020. http://dx.doi.org/10.28983/plamic2020.112.

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The analysis of the nucleotide polymorphism in two goatfish rhizobia biovars showed that the diversity of all gene groups corresponds to the diversity of the host plant, and the general polymorphism of chromosomal genes is higher than the symbiotic gene polymorphysm in both biovars.
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Caetano, Geovanna Cota, Julia Assis Rodrigues, Patrícia Aguiar Bellini, Clécio Ênio Murta de Lucena, Renata Toscano Simões, and Valéria Cristina Sandrim. "EVALUATION OF CYP2D6 POLYMORPHISM IN PATIENTS WITH BREAST CANCER AND TAMOXIFEN USERS OF TWO BREAST SERVICES OF BELO HORIZONTE." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2031.

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Objective: This study aimed to assess the CYP2D6*4 polymorphism and the association of this polymorphism with the evolution of breast cancer since the reduction of the CYP2D6 activity due to polymorphisms of the gene that encodes the enzyme or the use of inhibitory drugs has been linked to reduced levels of endoxifen (EDF) and worse prognosis in women treated with tamoxifen (TAM). The treatment is multidisciplinary; TAM is an established and important therapeutic modality. This drug is metabolized by the CYP2D6 enzyme into its active metabolites, 4-hydroxytamoxifen (HTF), and EDF. Methods: The study was approved by the local ethical committee (CEP) and registered as CEP number 065/2009. This is a prospective study in which interviews were conducted by graduated mastologists with 138 patients with breast cancer treated with TAM in two public outpatient clinics. The inclusion criteria were invasive breast cancer diagnosis and use of the TAM as part of the treatment. Clinical data and blood samples were collected for CYP2D6 genotyping with the Restriction Fragment Length Polymorphism technique. The statistical analysis was conducted through the STATA 10.3 program. Results: We observed that 14.5% of patients had a recurrence and 30% of premenopausal patients had menstrual cycles. The average disease-free survival was 43.6±45.7 months, and the average overall survival was 44.5±46.1 months. Regarding the polymorphism, 81.15% were extensive metabolizers (*1/*1), 16.66% were intermediate metabolizers (*1/*4), and 2.17% were poor metabolizers (*4/*4). The data corroborate with the literature in relation to CYP2D6 polymorphism. Conclusion: Considering the high incidence of BC and the wide use of TAM in the treatment of this tumor, conducting research addressing the pharmacogenetics of TAM is of great importance to assess the impact of CYP2D6 polymorphisms in the adjuvant treatment of BC.
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Guijun Wang and A. Ambler. "Invocation polymorphism." In Proceedings of Symposium on Visual Languages. IEEE, 1995. http://dx.doi.org/10.1109/vl.1995.520789.

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Dubois, Catherine, François Rouaix, and Pierre Weis. "Extensional polymorphism." In the 22nd ACM SIGPLAN-SIGACT symposium. New York, New York, USA: ACM Press, 1995. http://dx.doi.org/10.1145/199448.199473.

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Leivant, Daniel. "Discrete polymorphism." In the 1990 ACM conference. New York, New York, USA: ACM Press, 1990. http://dx.doi.org/10.1145/91556.91675.

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Eisenberg, Richard A., and Simon Peyton Jones. "Levity polymorphism." In PLDI '17: ACM SIGPLAN Conference on Programming Language Design and Implementation. New York, NY, USA: ACM, 2017. http://dx.doi.org/10.1145/3062341.3062357.

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Бородин, Евгений, Evgeniy Borodin, Павел Бородин, and Pavel Borodin. "GENETIC POLYMORPHISM." In XIII International Scientific Conference "System Analysis in Medicine". Far Eastern Scientific Center of Physiology and Pathology of Respiration, 2019. http://dx.doi.org/10.12737/conferencearticle_5d8335e350f955.82187693.

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Wisnesky, Ryan, Mauricio A. Hernández, and Lucian Popa. "Mapping polymorphism." In the 13th International Conference. New York, New York, USA: ACM Press, 2010. http://dx.doi.org/10.1145/1804669.1804695.

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Graham, J. B., D. B. Lubahn, J. D. Kirshtein, S. T. Lord, I. M. Nilsson, A. Wallmark, R. Ljung, et al. "THE “MALMO“ EPITOPE OF FACTOR IX: PHENOTYPIC EXPRESSION OF THE “VIKING“ GENE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643566.

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The epitope of a mouse monoclonal AB (9.9) which detects a Factor IX (F.IX) polymorphism in the plasma of normal persons (PNAS 82:3839, 1985) has been related to not more than 6 AA residues of F.IX by recombinant DNA technology. The same 6 residues define Smith’s polymorphic epitope (Am. J. Human Genet. 37:688, 1985 and in press). This region of F.IX contains the alanine:threonine dimorphism at residue 148 first suggested by McGraw et al. (PNAS 82: 2847, 1985) and established by Winship and Brownlee with synthetic DNA oligomers (Lancet in press). Using synthetic DNA probes, we have found that the DNA difference between positive and negative reactors to 9.9 is whether base pair 20422, the first pair in the codon for residue 148, is A:T or G:C. We can conclude that 9.9 reacts with F.IX containing threonine but not alanine at position 148.The F.IX immunologic polymorphism-whose epitope we are referring to as “Malmo”-is, not surprisingly, in strong linkage disequilibrium with two F.IX DNA polymorphisms, TaqI and Xmnl. The highest frequency of the rarer Malmo allele in 6 disparate ethnic groups was in Swedes (32%); a lower frequency (14%) was seen in White Americans whose ancestors came overwhelmingly from the Celtic regions of the British Isles; it was at very low frequency or absent in Black Americans, East Indians, Chinese and Malays. A maximum frequency in Swedes and absence in Africans and Orientals suggest that the transition from A:T to G:C occurred in Scandinavia and spread from there. The history of Europe and America plus the geographical distribution of the rare allele lead us to suggest that this locus might be designated: “the Viking gene”.
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Reports on the topic "Polymorphism"

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Zou, Chenghui, Weng Zhang, Mao Li, Dan He, Yujie Han, and 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, November 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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Deschamps, J. R., D. A. Parrish, and R. J. Butcher. Polymorphism in Energetic Materials. Fort Belvoir, VA: Defense Technical Information Center, January 2008. http://dx.doi.org/10.21236/ada517861.

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Harper, Robert, and Greg Morrisett. Compiling with Non-Parametric Polymorphism. Fort Belvoir, VA: Defense Technical Information Center, February 1994. http://dx.doi.org/10.21236/ada290316.

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Harper, Robert, and Mark Lillibridge. Explicit Polymorphism and CPS Conversion,. Fort Belvoir, VA: Defense Technical Information Center, October 1992. http://dx.doi.org/10.21236/ada258635.

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Kurtz, Andreas. Mitochondria Polymorphism in Neurofibromatosis Type 1. Fort Belvoir, VA: Defense Technical Information Center, November 2001. http://dx.doi.org/10.21236/ada400622.

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Harper, Robert, and Greg Morrisett. Compiling Polymorphism Using Intensional Type Analysis. Fort Belvoir, VA: Defense Technical Information Center, September 1994. http://dx.doi.org/10.21236/ada285340.

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Kurtz, Andreas. Mitochondria Polymorphism in Neurofibromatosis Type 1. Fort Belvoir, VA: Defense Technical Information Center, November 2002. http://dx.doi.org/10.21236/ada411354.

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Kurtz, Andreas C. Mitochondria Polymorphism in Neurofibromatosis Type 1. Fort Belvoir, VA: Defense Technical Information Center, November 2003. http://dx.doi.org/10.21236/ada420949.

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Grando, Sergei. Nicotinic Receptor Polymorphism in Lung Cancer. Fort Belvoir, VA: Defense Technical Information Center, October 2013. http://dx.doi.org/10.21236/ada598342.

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Greiner, John. Standard ML Weak Polymorphism Can Be Sound. Fort Belvoir, VA: Defense Technical Information Center, May 1993. http://dx.doi.org/10.21236/ada267839.

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