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br Treatment KD is currently the treatment of
2022-04-06
Treatment KD is currently the treatment of choice for GLUT1-DS. It is a high-fat, carbohydrate-restricted diet that mimics the metabolic state of fasting; so, the KD relies an exogenous rather than body fat for ketone production, thus maintaining ketosis without weight loss. As the developing br
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We report on four affected children
2022-04-06
We report on four affected children from two unrelated consanguineous DC260126 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 g
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Importantly the levels of the pro
2022-04-06
Importantly, the levels of the pro-inflammatory cytokines TNF-α and IL-1β and Nf-κB, a key transcription factor in chronic inflammatory responses that is activated by pro-inflammatory cytokines, were also reduced by the drugs, confirming our previous results that demonstrated anti-inflammatory effec
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A mutation in stearoyl coenzyme
2022-04-06
A mutation in stearoyl coenzyme A desaturase 1 gene was reported to reduce sebum production and monounsaturated fatty acids (MUFA) synthesis in mice, which was accompanied with impaired clearance of gram-positive bacteria-induced skin infection (Georgel et al., 2005). Interestingly, gram-positive ba
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br Discussion and concluding remarks
2022-04-06
Discussion and concluding remarks FPR1 is considered to be a promising drug target for treating inflammatory and immunological diseases. Thus, natural compounds that could block and/or regulate FPR1 activity may be an important source of novel therapeutics for modulating inflammatory processes. H
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Although ALPS type is very rare with few published
2022-04-02
Although ALPS type 0 is very rare with few published cases, we herein report the clinical and immunogenetic characteristics of two additional unrelated patients from highly inbred North African population. Both patients present two rare splicing defects mechanisms in FAS gene inducing the skipping o
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Recently the classical view of the
2022-04-02
Recently, the classical view of the compartmentalization of the plant isoprenoid metabolism has been re-evaluated, following the demonstration of the partial peroxisomal localization of the mevalonic Naloxone (MVA) pathway, generally regarded as cytosolic. Using GFP-tagging approaches, the last two
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A previous study from our
2022-04-02
A previous study from our institution showed moderate correlation between the APTT and Anti-FXa assays, prompting an institution-wide change to an Anti-FXa based monitoring of unfractionated heparin. The current study is a descriptive analysis to evaluate the clinical outcomes in this pediatric coho
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br Anandamide signaling and cardiovascular function
2022-04-02
Anandamide signaling and cardiovascular function The cardiovascular effects of cannabinoid compounds have been known for a long time. Studies in humans indicate that chronic use of marijuana causes long lasting decrease in blood pressure and heart rate, whereas the acute use increases heart rate
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About of human primary melanomas
2022-04-02
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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Enhancer of Zeste Homolog EZH is
2022-04-02
Enhancer of Zeste Homolog 2 (EZH2) is a core component of the Polycomb Repressive Complex2 (PRC2) which also includes SUZ12 and EED. PRC2 represses gene transcription through trimethylation of Lys27 of histone H3 (H3K27), and contribute to the maintenance of cell identity, orexin agonist regulation
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br Visualizing single synaptic vesicle exocytosis at CNS syn
2022-04-02
Visualizing single synaptic vesicle Brefeldin A at CNS synapses We visualized the dynamics of individual synaptic vesicles as they fuse and immediately before fusion at the mammalian conventional synapses for the first time (Midorikawa and Sakaba, 2015). We use a calyx of Held terminal, a large p
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Recent advances in imaging single protein
2022-04-02
Recent advances in imaging single protein mobility and organization in live organisms such as Drosophila larva motor nerve terminals have initiated this by providing a useful platform to investigate how the dynamic changes in the actomyosin network correlates with vesicle docking and fusion in vivo2
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ziprasidone hcl It is apparent from the
2022-04-02
It is apparent from the data in that none of the ligands exhibits significant toxicity as determined by the viability of human embryonic kidney (HEK 293) cells at a concentration of 100 μM. It is also apparent from the data in and that a number of the ligands inhibit the HIV-1 IN enzyme. However,
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The lower number of samples tested for the comparison betwee
2022-04-02
The lower number of samples tested for the comparison between cobas 4800 HIV-1 and RealTime HIV-1, especially at or below 50 copies/mL (Table 6), could limit our ability to discern a difference in the ability of the various assays to identify patients with virological failure. However, the 95% CI ar
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