Allelic variants
Frequencies of Cytochrome P450 2B6 and 2C8 Allelic Variants in the Mozambican Population
... predominantly observed in our study population compared to the allelic variants c.64 T (5.7%) and c.1459 T (0.4%). For the SNP at position c.777C>A, all of the tested individuals were genotyped as ...
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Inferred Allelic Variants of Immunoglobulin Receptor Genes: a system for their evaluation, documentation, and naming
... In 2017, the IMGT Group reached agreement with a group of AIRR-seq researchers on the principles of a streamlined process for identifying and naming inferred allelic sequences, for their incorporation into IMGT ® ...
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Functional characterization of wild-type and 24 CYP2D6 allelic variants on gefitinib metabolism in vitro
... It is important to point out that two allelic variants CYP2D6.93 and E215K exhibited a drastic decrease in enzy- matic activity. CYP2D6.93 exhibited ~ 94.4% lower V max , 1.53-fold higher K m , and 96.32% ...
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Functional assessment of <em>CYP3A4</em> allelic variants on lidocaine metabolism in vitro
... all allelic variants in Table 2 showed significant alteration in V max values compared with the wild-type CYP3A4*1: Only 4 variants CYP3A4*4, CYP3A4*9, CYP3A4*29, and CYP3A4*31 exhibited no ...
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<p>Functional characteristics of CYP3A4 allelic variants on the metabolism of loperamide in vitro</p>
... premature stop codons and then yielded truncated proteins. 21,24,31,32 Apart from CYP3A4.6, .20 and .30, CYP3A4.17 also exhibited extremely weak enzymatic activity without detectable concentrations of DLOP, con- sistent ...
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Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes
... of variants identified in our subjects on TONSL protein stability, we performed immunoblot analyses on three subject-derived fibroblast cell lines that had a range of TONSL ...two variants on TONSL protein ...
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Do allelic variants of SLC6A14 predispose to obesity?
... Significant evidence of association for an SNP3 of SLC6A14 gene P = 0.0002 with BMI was observed using a casecontrol sample of only male subjects from the Finnish population with the G-a[r] ...
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Theoretical Basis for the Identification of Allelic Variants That Encode Drug Efficacy and Toxicity
... sequence variants on the basis of the haplotype map (HapMap) constructed from single-nucleotide polymorphisms ...genetic variants and matrix-structuring ...
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<p>Melanogenic Difference Consideration in Ethnic Skin Type: A Balance Approach Between Skin Brightening Applications and Beneficial Sun Exposure</p>
... Constitutive skin pigmentation is above all a polygenic trait, with the quantities and type of melanin controlled by the genes with allelic variants through single nucleotide poly- morph[r] ...
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Two common nonsynonymous paraoxonase 1 (PON1) gene polymorphisms and brain astrocytoma and meningioma
... and allelic variants could be related to the risk of developing brain astrocytoma and/or meningioma, we have compared the prevalence of the PON1 -L55M and PON1 - Q192R poly- morphisms in the PON1 gene, in a ...
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CYP2C9 Polymorphism and Unstable Anticoagulation with Warfarin in Patients Within the First 3 Months Following Heart Valve Replacement
... In the current study, patients possessing mu- tated allelic variants of the CYP2C9 gene had lower both estimated and actual warfarin doses than pa- tients with the CYP2C9*1/*1 genotype. This is in line with ...
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Study on the association of UGT1A9 gene c.98T>C polymorphism and mycophenolic acid plasma levels in renal transplant patients.
... An example of a drug class, which will gain benefit from pharmacogenomics studies, is the class of immunosuppressants, including MMF, with major implications for human health, especially on kidney transplant recipients ...
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Genetic variance in Nitric Oxide Synthase and Endothelin Genes among children with and without Endothelial Dysfunction
... In this study, we report on the associations between the frequency of the 3 NOS genes, and 3 genes of the EDN family, along with its two cognate receptors in a carefully phenotyped cohort of pre-pubertal otherwise ...
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IDENTIFICATION OF BETA-LACTOGLOBULIN AND KAPPACASEIN GENOTYPES IN CATTLE
... the allelic variants of b-Lg and k-Cn in Romanian Black Spotted breed and to evaluate the favourable genotypes for the production of milk and cheese of superior ...
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Merozoite surface protein 3α is a reliable marker for population genetic analysis of Plasmodium vivax
... distinct allelic variants have been detected among 50 northern and 94 southern ...distinct variants identified in all 146-sequenced Iranian ...
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Molecular Characterization of Endocarditis Associated Staphylococcus aureus
... and allelic variants, namely, ssl03, ssl7-set1, ssl8-set12, ssl08, ssl9-set5, setB3, fib, and lukY-var1, which are significantly associated with ...and allelic variants was determined using a ...
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... gene variants CYP2C8*3, CYP2C9*2,*3 or UGT2B7*2, which code for low-activity enzymes, could worsen these ...*3 variants, but Daily et ...gene variants coding for metabolic enzymes (responsible for ...
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The genomics of schizophrenia: update and implications
... Clinical assessment of several rare CNVs of strong effect could now be warranted. The identification schizophrenia cases with one of these variants (approximately 0.5%–2% of all cases) could potentially be ...
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Roman_unc_0153D_16109.pdf
... I identified multiple regulatory variants at the GALNT2 HDL-C-associated locus[85]; at least two of these variants, rs4846913 and rs2281721, exhibited strong haplotype and allelic di[r] ...
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Cooperation of Adhesin Alleles in Salmonella-Host Tropism
... ABSTRACT Allelic combinations and host specificities for three fimbrial adhesins, FimH, BcfD, and StfH, were compared for 262 strains of Salmonella enterica serovar Newport, a frequent human and livestock ...two ...
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