Results 61 to 70 of about 444,550 (269)
These scans are similar to the heterozygosity-based analysis (Figs 4 and S9), but focusing on biallelic SNP changes (rather than accession-based frequencies).
Urszula Kania (16877777) +9 more
core +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
SLAMF7, also known as CD319, a SLAM (signaling lymphocytic activation molecule) family receptor, is relatively weakly expressed on chronic lymphocytic leukemia (CLL) B cells.
Dominik Kľoc +8 more
doaj +1 more source
Metabolites of Tryptophane and Phenylalanine as Markers of Small Bowel Ischemia-Reperfusion Injury
Ischemic-reperfusion injury of the small intestine is an acute clinical condition with high mortality rate. This study describes the changes in levels of phenylalanine and tryptophan metabolites in intestinal homogenates and urine samples of Wistar male ...
Mašlanková Jana +9 more
doaj +1 more source
SNP-index information of the three markers.
SNP-index information of the three markers.
Yuanjun Ye (2872955) +7 more
core +1 more source
The burden quantitative trait locus (bQTL) analysis integrates epidemiological data from GBD study with genotype of 2 621 978 SNPs from 2414 individuals in 1000 Genomes Project across 20 countries. rs7633471 shows the strongest effect that each increase in centi‐allele frequency of the allele C associated with 10.00 decrease of age‐standardized ...
Chen Sun +27 more
wiley +1 more source
Attomolar Detection of HIV‐1 With Label‐Free RCA‐rCRISPR on Smartphone
A new diagnostic strategy integrating rolling circle amplification (RCA) with a plasmid reporter–based ratiometric CRISPR (rCRISPR) system was developed to detect unfragmented HIV genomes with single‐digit attomolar sensitivity. The method quantifies targets using the plasmid relaxation ratio and employs a smartphone‐based mini‐gel device to enable ...
Noor Mohammad +12 more
wiley +1 more source
SNP-specific genotype frequencies for cases (YWC) and controls (CGEMS).
SNP-specific genotype frequencies for cases (YWC) and controls (CGEMS).
Bryce G. Larson (6733730) +20 more
core +1 more source
Lactiplantibacillus plantarum GUANKE remodels the indigenous gut microbiota and is associated with microbiota‐dependent restoration of circulating IAA. IAA treatment attenuates JAK3‐STAT3 and Jag1‐Notch4‐Hey1 signaling and reduces CX3CR1+Ly6C− monocytic precursor generation and pulmonary CD11b+ DC accumulation, together with reduced Th2 inflammation ...
Yujia He +10 more
wiley +1 more source
Oxidative Stress and the Nrf2/PPARγ Axis in the Endometrium: Insights into Female Fertility
Successful pregnancy depends on precise molecular regulation of uterine physiology, especially during the menstrual cycle. Deregulated oxidative stress (OS), often influenced by inflammatory changes but also by environmental factors, represents a ...
Peter Artimovič +7 more
doaj +1 more source

