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Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III
Published 2023-01-01“…The pathogenicity of the novel variants was furthermore assessed through bioinformatics analysis and cellular functional validation experiments. Results. The two patients were hospitalized with abnormal liver function or hepatomegaly, which was characterized by remarkably elevated liver enzyme and muscle enzyme levels, as well as hepatomegaly, and were eventually diagnosed with GSDIIIa. …”
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Functional characterization of the α1-adrenoceptor in adult male rat locus coeruleus neurons ex vivo
Published 2025-08-01“…IntroductionThe α1-adrenoceptor (α1AR) is involved in the physiopathology of the central nervous system (CNS), but its function in the adult male rat locus coeruleus (LC) has not been fully studied. …”
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Functional characterization of four soybean C2H2 zinc-finger genes in Phytophthora resistance
Published 2025-12-01“…This study provides insights in to the functional characterization of soybean ZFPs in Phytophthora resistance and demonstrates that GmZFP2 plays a positive role in P. sojae resistance in soybeans.…”
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Characterization of a Novel Tc-Carbonyl Complex as a Functional Probe of P-Glycoprotein Transport Activity
Published 2002-01-01“…Furthermore, the protective function of Pgp-mediated efflux of xenobiotics in various organs has a profound effect on the bioavailability of drugs in general. …”
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A Genome-Wide Characterization of the Xyloglucan Endotransglucosylase/Hydrolase Family Genes and Their Functions in the Shell Formation of Pecan
Published 2025-05-01“…While the roles of XTHs have been extensively studied in primary and secondary growth, their functions in the formation and thickening of lignified nut shells remain largely unknown. …”
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Functionally characterizing obesity-susceptibility genes using CRISPR/Cas9, in vivo imaging and deep learning
Published 2025-02-01“…Abstract Hundreds of loci have been robustly associated with obesity-related traits, but functional characterization of candidate genes remains a bottleneck. …”
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Archaeal LOV domains from Lake Diamante: first functional characterization of a halo-adapted photoreceptor
Published 2025-06-01“…Mutational studies of key residues (Y30F and Y48F) highlighted their roles in modulating flavin photophysic and revealed a stabilizing function for Y48 at low salt concentrations. These findings mark the first functional characterization of a canonical archaeal LOV domain, expanding our understanding of light sensing and protein adaptation in extremophiles.…”
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Natural Polymer-Based Coatings for Animal-Derived Products: A Review of Applications, Functionality, Characterization, and Challenges
Published 2025-06-01“…Particular attention is placed on the structure-function relationships of biopolymers, their characterization through advanced techniques (e.g., Fourier Transform Infrared spectroscopy—FTIR, Scanning Electron Microscope—SEM, Differential Scanning Calorimetry—DSC, and Thermogravimetric analysis—TGA), and their functional properties (e.g., antimicrobial and antioxidant efficacy). …”
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