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We report on four affected children
2022-02-25

We report on four affected children from two unrelated consanguineous Cy5 TSA with moderate to severe ID associated with epilepsy and variable neuropsychiatric features. Using whole-exome sequencing, we identified homozygous missense variants in SLC45A1 (OMIM: 605763), which codes for a neuronal glu
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GSK1838705A br Origin of the vertebrate hexokinase gene fami
2022-02-25

Origin of the vertebrate hexokinase gene family Multiple hexokinases have been found in vertebrates, plants and yeast (Wilson, 1995, Cárdenas et al., 1998). A hexokinase in both vertebrates and yeast has, unfortunately, been named glucokinase. The sharing of the name glucokinase has suggested to
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br Conclusions br Conflicts of Interest
2022-02-25

Conclusions Conflicts of Interest Acknowledgments The Section of Endocrinology and Investigative Medicine is funded by grants from the Medical Research Council (MRC), Biotechnology & Biological Sciences Research Council (BBSRC), National Institute for Health Research (NIHR), an Integrative
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br Introduction Glucose homeostasis is primarily regulated b
2022-02-25

Introduction Glucose homeostasis is primarily regulated by the hormones insulin and glucagon, secreted from the pancreatic islets of Langerhans. Although insulin produced by β c-Myc tag is the blood glucose-lowering hormone, glucagon secreted from α cells acts as the major counter-regulatory hor
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Introduction br Channel activity Since initial
2022-02-25

Introduction Channel activity Since initial reports of the Ca2+-activated K+ permeability of erythrocytes (see Gardos, 1958), several ‘criteria’ have been established to certify K+ fluxes as being due to the Gárdos channel. For example, the requirement for Ca2+ at the intracellular face of the c
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The regulation of gap junction connexin mediated activities
2022-02-25

The regulation of gap junction-connexin-mediated activities may be achieved through action on the channel gating properties (membrane voltage, pH, interaction with junctional and cytoskeletal proteins, Ca2+ and K+ concentrations, etc) or on the trafficking, turnover and localization of connexins. Sh
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However T DM and associated hyperglycemia can adversely
2022-02-24

However, T1DM and associated hyperglycemia can adversely affect the structure and function of the heart in several mechanisms including inhibiting the anabolic effect of insulin due to its deficiency, generation of higher levels of ROS and induction of lipid peroxidation, and subsequent activation o
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A large body of evidence supports a
2022-02-24

A large body of evidence supports a contribution of the endocannabinoid (eCB) system in the regulation of stress and emotional behavior (Gorzalka and Hill, 2011, Hill and Patel, 2013, Morena et al., 2016). General findings from this work indicate that eCB anandamide signaling is critical for bufferi
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About of human primary melanomas
2022-02-24

About 67% of human primary melanomas and 56% of melanoma metastases display cytoplasmic or nuclear β-catenin accumulation (Xue et al., 2016). Of note, active β-catenin stimulates emergence of metastasizing melanoma in mice harboring BrafV600E or NrasQ61K hyperplasia (Damsky et al., 2011, Delmas et a
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Fluticasone propionate sale br Materials and methods br Resu
2022-02-24

Materials and methods Results Discussion The major findings of the present study are that: 1) the response to inverse agonists may be crossregulated by the activation of either Fluticasone propionate sale H1 or H2 receptors, 2) histamine H1 and H2 receptor inverse agonists crossdesensitize
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br Epigenetic regulation of OA pathogenesis Although epigeno
2022-02-24

Epigenetic regulation of OA pathogenesis Although epigenome of each cell is unique but can undergo temporal and spatial changes in response to environmental stimuli such as diet, exercise, smoking and disease status. Aberrant epigenetic modifications due to environmental factors are associated wi
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br Hydroxamic acids br Inhibitors with reporting modalities
2022-02-24

Hydroxamic acids Inhibitors with reporting modalities Dual or more HDAC inhibitors Conclusion Finally, non-human HDAC such as Schistosoma mansoni HDAC8 are targeted for parasitic diseases and recent work highlight the interest of HDACs in viral infections. Despite their discovery in the
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br Trifluoromethylketones This group of compounds was demons
2022-02-24

Trifluoromethylketones This group of compounds was demonstrated to bind the zinc Vialinin A synthesis in the active site due to its easy hydration, forming the required chelating intermediate. Ontaria et al. [92] have proposed variations around the cap group of trifluoromethylthiophene as the co
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To identify factors associated with
2022-02-24

To identify factors associated with being HCV-unaware, univariable and multivariable logistic model were used, odds ratios, 95% confidence intervals and p-values were reported. We included in the multivariable model factors associated with unawareness of HCV infection in univariable analysis with a
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All the compounds and were assayed
2022-02-24

All the compounds –, , , –, , – and – were assayed for their potential cytotoxicity at a single dose of 10 µM on Huh7 cells. Interestingly, all compounds proved to be non toxic, with the exception of and which exhibited high cellular toxicity and therefore were excluded from further experiments (a
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