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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing...
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A strategy to detect metabolic changes induced by exposure to chemicals from large sets of condition-specific metabolic models computed with enumeration techniques
BackgroundThe growing abundance of in vitro omics data, coupled with the necessity to reduce animal testing in the safety assessment of chemical...
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The influence of the vaginal ecosystem on vaginitis, bacterial vaginosis, and sexually transmitted diseases: an epidemiological study and literature review
PurposeThis study aimed to demonstrate the correlation between altered balance of the vaginal ecosystem and increased risk of vaginitis, bacterial...
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Expression genome-wide association study identifies key regulatory variants enriched with metabolic and immune functions in four porcine tissues
BackgroundIntegration of high throughput DNA genoty** and RNA-sequencing data enables the discovery of genomic regions that regulate gene...
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Gut Microbiome and colorectal cancer: discovery of bacterial changes with metagenomics application in Turkısh population
BackgroundColorectal cancer (CRC) is the 3rd most common cancer in the world and colonic carcinogenesis is a multifactorial disease that involves...
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Actn2 defects accelerates H9c2 hypertrophy via ERK phosphorylation under chronic stress
BackgroundIn humans, ACTN2 mutations are identified as highly relevant to a range of cardiomyopathies such as DCM and HCM, while their association...
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Silencing DOCK2 Attenuates Cardiac Fibrosis Following Myocardial Infarction in Mice Via Targeting PI3K/Akt and Wnt/β-Catenin Pathways
Cardiac fibrosis following myocardial infarction (MI) seriously affects the prognosis and survival rate of patients. This study aimed to determine...
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Live birth after vitrification of oocytes from capacitation in vitro maturation
Female fertility preservation is a rapidly growing field in medicine. Oocyte cryopreservation and assisted reproductive technique with...
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SimSpliceEvol2: alternative splicing-aware simulation of biological sequence evolution and transcript phylogenies
BackgroundSimSpliceEvol is a tool for simulating the evolution of eukaryotic gene sequences that integrates exon-intron structure evolution as well...
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Research Progress of ARTP Mutagenesis Technology Based on Citespace Visualization Analysis
Atmospheric and room temperature plasma (ARTP) mutagenesis technology has been developed rapidly in recent years because of its simple operation,...
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Modulation of gene expression in immune-related organs by in ovo stimulation with probiotics and prophybiotics in broiler chickens
In ovo stimulation has been studied intensively as an alternative to antibiotic use in poultry production. We investigated the potential use of a...
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Potential of animal-welfare compliant and sustainably sourced serum from pig slaughter blood
The animal product most used as a stimulatory additive for cell cultivation is still fetal bovine serum (FBS). Besides the ethical concerns regarding...
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Predictors of gamete donation: a cross sectional survey study
PurposeIn 2015, assisted reproductive technology (ART) accounted for 1.7% of all U.S. births, donor eggs accounted for over 17,000 started cycles in...
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Genome-wide analysis of histone modifications can contribute to the identification of candidate cis-regulatory regions in the threespine stickleback fish
BackgroundCis -regulatory mutations often underlie phenotypic evolution. However, because identifying the locations of promoters and enhancers in...
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Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
BackgroundOne of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in...
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Bone Turnover Markers Levels in a Cohort of Egyptian Children with Sickle Cell Disease
Bony complications are variable and common in sickle cell disease. Bone turnover markers are a reflection of bone new bone formation or degradation....
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A possible role of lncRNA MEG3 and lncRNA MAFG-AS1 on miRNA 147-b in the pathogenesis of Behcet’s disease
Behcet’s disease (BD) is a multisystem disease with altered Toll-like receptors (TLRs) on macrophages. Long noncoding RNA Maternally expressed gene 3...
