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Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients
Published 2025-08-01“…Whole-exome sequencing identified the same hemizygous missense RPL10 gene variant (NM_006013.5:c.347G>A, p.Arg116Gln) in each patient, inherited from their respective mothers. The functional analysis of this variant in vitro demonstrated that this missense RPL10 gene variant (c.347G>A) reduced the mRNA expression of the RPL10 gene, thereby decreasing synthesis of the RPL10 protein. …”
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Expression and Purification of Homeodomain
Published 2009-03-01“…TGIFLX/Y (TGIFLX and TGIFLY) are members of the homeobox superfamily of genes. Their expressions are specifically detected in the human adult testis but their functions are remained to be investigated. …”
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An Integral of Fox’s H-Functions With Application to the Performance of Hybrid FSO/RF Systems Over Generalized Fading Channels
Published 2025-01-01“…Motivated by the need to solve this issue, we evaluate an integral of a product of Fox’s H-functions (FHFs). To verify the validity of the proposed solution, it is utilized to derive performance expressions for a hard switching hybrid free-space optical/radio frequency (FSO/RF) system. …”
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3064
The Clostridium difficile cell wall protein CwpV is antigenically variable between strains, but exhibits conserved aggregation-promoting function.
Published 2011-04-01“…The highly conserved N-terminus anchors the CwpV complex to the cell surface. Therefore CwpV function, regulation and processing are highly conserved across C. difficile strains, whilst the functional domain exists in at least five antigenically distinct forms. …”
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A multistage Plasmodium CRL4WIG1 ubiquitin ligase is critical for the formation of functional microtubule organization centers in microgametocytes
Published 2024-10-01“…However, little is known about the repertoire and function of these enzymes in Plasmodium. Here, we show that Plasmodium expresses a conserved cullin RING E3 ligase (CRL) complex that is functionally related to CRL4 in other eukaryotes. …”
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Selective disruption of aurora C kinase reveals distinct functions from aurora B kinase during meiosis in mouse oocytes.
Published 2014-02-01“…In mitosis, the CPC is required to regulate kinetochore microtubule (K-MT) attachments, the spindle assembly checkpoint, and cytokinesis. Germ cells express an AURKB homolog, AURKC, which can also function in the CPC. …”
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3068
Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.
Published 2024-01-01“…In this study, we characterize the impact of CHED-/FECD4-associated SLC4A11 mutations on CEnC function and SLC4A11 protein localization by generating and comparing human CEnC (hCEnC) lines expressing wild type SLC4A11 (SLC4A11WT) or mutant SLC4A11 harboring CHED-/FECD4-associated SLC4A11 mutations (SLC4A11MU). …”
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The subventricular zone neurogenic niche provides adult born functional neurons to repair cortical brain injuries in response to diterpenoid therapy
Published 2025-01-01“…Despite the increased neurogenesis and migration, many newly generated neurons fail to survive or functionally integrate into the cortical circuitry. Providing the injured area with the adequate signaling molecules may improve both migration and functional integration of newly generated neurons. …”
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Protective impacts of bamboo leaf flavonoids in stressed broilers induced by diquat: Insight of antioxidant, immune response and intestinal barrier function
Published 2025-03-01“…This research explored the protective impact of bamboo leaf flavonoids (BLF) in diquat (DQ) stressed broilers; providing insight of antioxidant, immune response and intestinal barrier function. This experiment consisted of two parts. In the first, 240 chicks were allotted to 2 groups with 8 replicates and 15 chicks per replicate. …”
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Human placenta mesenchymal stromal cells alleviate intestinal inflammation and repair intestinal barrier function by activating AMPK-FXR pathway
Published 2025-05-01“…IGFBP-4 is the most expressed by hPMSCs and is verified to play a therapeutic role by activating the AMPK-FXR pathway to alleviate intestinal inflammation and repair the intestinal barrier function. …”
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Functional Outcome after Simultaneous Bilateral Four-Part Proximal Humerus Fracture: A Comparison of ORIF and Hemiarthroplasty in an Individual Patient
Published 2012-01-01“…Our surgical tactic is to attempt open reduction and internal fixation where possible. We report the functional outcome in a 56-year-old female who sustained simultaneous bilateral four-part proximal humeral fractures after falling down a flight of stairs. …”
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Estimation of the distribution function of a finite population utilizing auxiliary information in the context of non-response within complex survey sampling.
Published 2025-01-01“…This study focuses on estimating a finite population cumulative distribution function (CDF) using two-stage and three-stage cluster sampling under non-response. …”
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Stochastic Comparisons of Probability Distribution Functions with Experimental Data in a Liquid-Liquid Extraction Column for Determination of Drop Size Distributions
Published 2017-08-01“…Drop size distribution are appropriately described using the normal and log-normal probability density functions. The mathematical approach is used to determine the constant parameters in these functions and to provide the fit of the experimental data with them. and empirical expressions are derived to predict the parameters of the distribution curve as a function of operating variables, and physical properties of the systems. …”
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A Linear Mathematical Model of the Vocational Training Problem in a Company Using Neutrosophic Logic, Hyperfunctions, and SuperHyperFunction
Published 2025-07-01“…Mathematical models consist of an objective function, through which we search for the maximum or minimum value, and constraints. …”
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Androgen action via testicular arteriole smooth muscle cells is important for Leydig cell function, vasomotion and testicular fluid dynamics.
Published 2010-10-01“…Regulation of blood flow through the testicular microvasculature by vasomotion is thought to be important for normal testis function as it regulates interstitial fluid (IF) dynamics which is an important intra-testicular transport medium. …”
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Functional Investigation of the Receptor to the Major Pheromone Component in the C-Strain and the R-Strain of the Fall Armyworm <i>Spodoptera frugiperda</i>
Published 2025-03-01“…To address this gap, we functionally expressed the receptors to the major sex pheromone component of the two strains in <i>Drosophila</i> olfactory sensory neurons and challenged them with a large panel of pheromone compounds using single-sensillum recordings. …”
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Biosynthesis of a dual growth factors (GFs) functionalized silk sericin hydrogel to promote chronic wound healing in diabetic mice
Published 2025-10-01“…In present study, two silk gland bioreactor silkworm stains were generated to successfully synthesize functional silk fibers incorporating high expressions of EGF and PDGF-BB. …”
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