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OLAgen: A Software Tool for Reagent Design to Expand Access to Single Nucleotide Variant Detection by the Oligonucleotide Ligation Assay.
J Mol Diagn
January 2025
Department of Biomedical Engineering, Vanderbilt University, Nashville, Tennessee, United States. Electronic address:
Single nucleotide variations (SNVs) and polymorphisms (SNPs) are characteristic biomarkers in various biological contexts, including pathogen drug resistances and human diseases. Tools that lower the implementation barrier of molecular SNV detection methods would provide greater leverage of the expanding SNP/SNV database. The oligonucleotide ligation assay (OLA) is a highly specific means for detection of known SNVs and is especially powerful when coupled with polymerase chain reaction (PCR).
View Article and Find Full Text PDFAssociation between maternal serum zinc and birth weight is modified by neonatal SOD2 polymorphism and promoter methylation.
J Trace Elem Med Biol
January 2025
Department of Environmental Health & Environment and Health Innovation Team, School of Public Health, Zhengzhou University, Zhengzhou, Henan, PR China; National Health Commission Key Laboratory of Birth Defects Prevention, Zhengzhou, Henan, PR China. Electronic address:
Background: Conflicting findings exist regarding the association between maternal serum zinc and neonatal birth weight. This study aimed to explore the association between maternal serum zinc and birth weight, and whether this association was modified by neonatal SOD2 polymorphism and promoter methylation.
Methods: We recruited 464 mother-newborn pairs at Houzhai Center Hospital from January 2010 to January 2012.
Background: The treatment and control of malaria in Africa is challenged by drug resistance, including transporter, folate pathway, and PfK13 mutations that mediate resistance to aminoquinolines, antifolates, and artemisinins, respectively. Characterization of drug susceptibility informs optimal control strategies.
Methods: We characterized ex vivo susceptibilities to nine drugs of isolates collected from individuals presenting with uncomplicated falciparum malaria in eastern (2019-2024) and northern (2021-2024) Uganda using a growth inhibition assay and the dihydroartemisinin (DHA) ring survival assay (RSA).
Drug interaction evaluation of the novel phosphodiesterase type 5 inhibitor tunodafil (youkenafil): Effects of tunodafil on omeprazole pharmacokinetics based on CYP2C19 gene polymorphism, and effects of ritonavir on tunodafil pharmacokinetics.
Eur J Pharm Sci
January 2025
Department of Pharmaceutical Analysis, China Pharmaceutical University, Nanjing 211198, China. Electronic address:
Purpose: To evaluate the drug-drug interactions (DDI) of tunodafil (youkenafil), a novel phosphodiesterase type 5 inhibitor, its inhibitory effects on CYP450 enzymes in vitro and its clinical trials in combination with ritonavir or omeprazole were conducted.
Methods: The inhibitory effect of tunodafil on seven major CYP450 enzymes in human liver microsomes was investigated by probe substrate method. The effect of tunodafil on the pharmacokinetics of omeprazole (CYP2C19 substrate) in 40 healthy subjects, who received a single dose of 40 mg omeprazole in combination with tunodafil on the day 8 after taking 100 mg tunodafil daily for 7 days, was assessed based on CYP2C19 genotypes.
Joint analysis of genome-wide cross-trait and multi-omics reveals molecular mechanisms of inflammatory bowel disease and nominates its novel therapeutic genes.
FASEB J
January 2025
College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang, China.
Inflammatory bowel disease (IBD) with the two predominant endophenotypes-Crohn's disease (CD) and ulcerative colitis (UC)-represents a group of chronic gastrointestinal inflammatory conditions. Since most genetic associations with IBD are often limited to independent subtypes, we reported a genome-wide association study (GWAS) cross-trait analysis combined with CD and UC to enhance statistical power. Initially, we detected 256 association signals at 54 genomic susceptibility loci and further characterized the functionality of variants within these regions.
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