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1281
Interplay of PNPLA3 and HSD17B13 Variants in Modulating the Risk of Hepatocellular Carcinoma among Hepatitis C Patients
Published 2020-01-01“…A single-nucleotide polymorphism causing a C to G change in the PNPLA3 gene (rs738409) is associated with disease severity and development of hepatocellular carcinoma (HCC) in nonalcoholic fatty liver disease; the insertion variant rs72613567:TA of the 17β-hydroxysteroid dehydrogenase type 13 (HSD17B13) mitigates this detrimental effect. …”
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1282
Combining genotyping approaches improves resolution for association mapping: a case study in tropical maize under water stress conditions
Published 2025-01-01“…Genome-wide Association Studies (GWAS) identify genome variations related to specific phenotypes using Single Nucleotide Polymorphism (SNP) markers. Genotyping platforms like SNP-Array or sequencing-based techniques (GBS) can genotype samples with many SNPs. …”
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1283
Biodesulfurization of high-sulfur oil from the Karazhanbas field of Kazakhstan with deep eutectic solvents
Published 2025-01-01“…The research methodology was based on the application of the Koch methods to determine the total number of microorganisms; light microscopy – for the study of microbiological preparations; genetic identification of bacteria based on the analysis of the nucleotide sequence of a fragment of the 16S rRNA gene; synthesis of deep eutectic solvents; testing of isolated bacteria – for sensitivity to Cr (VI), for the ability of microorganisms to use hydrocarbons of high-sulfur oil, for activity in sulfur-containing crude oil, for determination of the mass fraction of sulfur. …”
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1284
Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci
Published 2024-12-01“…Eight significant loci have been identified by genome-wide association studies (GWAS) and single nucleotide polymorphism (SNP)-based heritability was estimated to be ~ 11–17, yet causal variants remain elusive. …”
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1285
The Identification of Molecular Ploidy Status of Abnormal Pronuclear Zygotes Reveals a Significant Number of Euploid Blastocysts Available for Conception
Published 2024-12-01“…Next-generation sequencing was performed for PGT-A, and excess whole-genome amplified DNA was utilized for single nucleotide polymorphism beadchip array analysis. <b>Results:</b> At the time of fertilization check on day 1 of embryo development, when there were no visible pronuclei (<i>n</i> = 291), 56% of these 0PN blastocysts were confirmed to be diploid and normally fertilized. …”
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1286
Characterization of the complete genome sequence of the recombinant norovirus GII.P16/GII.4_Sydney_2012 revealed in Russia
Published 2020-03-01“…A comparison of the nucleotide and the deduced amino acid sequences showed a high homology of the Russian strain with GII.P16/GII.4_Sydney_2012 strains from other parts of the world. …”
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1287
The Association between Polymorphisms of Vitamin D Metabolic-Related Genes and Vitamin D3 Supplementation in Type 2 Diabetic Patients
Published 2019-01-01“…To investigate the effect of single nucleotide polymorphisms (SNPs) of the key genes in vitamin D metabolic pathway on the serum 25(OH)D level after long-term vitamin D3 supplementation and provide a theoretical basis for rational vitamin D3 supplementation in diabetic patients with different genetic backgrounds. …”
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1288
Assessing the Causal Relationship Between Various Immune Cells and Attention Deficit Hyperactivity Disorder: Mendelian Randomization Study
Published 2025-01-01“…It was discovered that single‐nucleotide polymorphisms (SNPs) are linked to ADHD. …”
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1289
Putative regulatory functions of SNPs associated with bronchial asthma, arterial hypertension and their comorbid phenotype
Published 2022-01-01“…Linkage disequilibrium (LD) of single nucleotide polymorphisms (SNPs) of TLR4/AL160272.2 (rs1927914, rs1928298, rs7038716, rs7026297, rs7025144) was estimated in the Slavs of West Siberia. …”
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1290
Association between chronic obstructive pulmonary disease and osteoporosis: Mendelian randomization combined with bibliometric analysis
Published 2025-02-01“…The current status of cross-sectional research between COPD and OP in the past decade was explored through bibliometrics. Methods Single nucleotide polymorphisms (SNPs) that have been found to be strongly associated with COPD were used as instrumental variables (IVs) in MR Analysis. …”
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1291
Chickens productivity selection affects immune system genes
Published 2020-12-01“…Molecular typing of single nucleotide polymorphisms of three loci revealed an approach to fixation of the unfavorable allele of the DMA gene (SNP Gga_rs15788237), an approach to fixation of the unfavorable allele of the RACK1 gene and the prevalence of the favorable CD1B gene allele (SNP Gga_rs16057130). …”
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1292
Interaction of genetics risk score and fatty acids quality indices on healthy and unhealthy obesity phenotype
Published 2025-01-01“…Dietary intake was assessed using a 147-item food frequency questionnaire and dietary fat quality was assessed using the cholesterol-saturated fat index (CSI) and the ratio of omega-6/omega-3 (N6/N3) essential fatty acids. Three single nucleotide polymorphisms-MC4R (rs17782313), CAV-1 (rs3807992), and Cry-1(rs2287161) were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique and were combined to produce the genetic risk score (GRS). …”
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1293
Role of IPF genetic risk loci in post-COVID-19 lung abnormalities: a cohort study
Published 2025-01-01“…We investigated whether common genetic risk factors in IPF are associated with developing lung parenchymal abnormalities following severe COVID-19 disease.Methods Consecutive adults hospitalised for laboratory-confirmed COVID-19 infection were prospectively recruited from March to May 2020. Three single-nucleotide polymorphisms (SNPs) conferring risk for IPF were genotyped (MUC5B rs35705950, ATP11A rs1278769 and DPP9 rs12610495). …”
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1294
MicroRNA Regulation of Endothelial Junction Proteins and Clinical Consequence
Published 2016-01-01“…MicroRNAs (miRNA) are ~20 nucleotide, noncoding RNAs that play an important role in posttranscriptional regulation for almost all genes. …”
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1295
Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations
Published 2020-12-01“…As a result, in the sample of the white population we examined, pathogenic variants previously described in other ethnic groups were revealed: E387K (rs55989760), R444* (rs377049098), R444Q (rs72549376), and P437L (rs56175199), as well as novel single-nucleotide deletion p.F114Lfs*38 in the CYP1B1 gene. …”
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1296
EPIGENETICS TODAY AND TOMORROW
Published 2015-01-01“…Epigenetics is a science of inheritable organism properties that are not associated with changes in the DNA nucleotide sequence but can be indirectly encoded in the genome. …”
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1297
Halophilic bacteria of salt lakes and saline soils of the Peri-Caspian lowland (Republic of Daghestan) and their biotechnological potential
Published 2021-04-01“…G2 (MW386470) with a similarity of the nucleotide sequences of the 16S rRNA genes is 95 %. …”
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1298
Interleukin-12 Inhibits Tumor Growth and Metastasis Promoted by Tumor-Associated Mesenchymal Stem Cells in Triple-Negative Breast Cancer
Published 2024-09-01“…The TA-MSCs RNA-seq dataset (PRJEB27694) was analyzed todetect elevated metastasis-associated oncogenes, downloaded from the European Nucleotide Archive database. Forvalidation of the RNA-seq data analysis, the expression levels of candidate oncogenes were evaluated in TA-MSCs,TNBC cells, and tumor tissue using RT-PCR.Results: TA-MSCs enhanced migration, invasion, and EMT of TNBC cells in vitro without affecting cell proliferation orapoptosis. …”
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1299
Application of rapid genotyping of Warfarin individualized pharmacogenetic variants in Warfarin therapy
Published 2024-12-01“…Herein, we present a novel application, a multiplex fluorescent melting curve assay of whole-blood direct amplification of nested polymerase chain reaction (PCR), to genotyping single-nucleotide polymorphism (SNPs) rapidly that affect warfarin efficacy. …”
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CD28 Genetic Variants Increase Susceptibility to Diabetic Kidney Disease in Chinese Patients with Type 2 Diabetes: A Cross-Sectional Case Control Study
Published 2021-01-01“…Then, we performed a candidate gene association study to identify single-nucleotide polymorphisms (SNPs) associated with DKD susceptibility and further used those SNPs to perform Mendelian randomization analyses of serum sCD28 level and DKD susceptibility. …”
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