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We report on four affected
2022-04-20
We report on four affected children from two unrelated consanguineous 2111 mg 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 gl
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LbGlcK crystallized as a ligandless dimer in the
2022-04-20
LbGlcK crystallized as a ligandless dimer in the asymmetric unit of space group P21 (Fig. 1a) with two identical subunits stabilized by a large contact surface area of 2295 Å2 (13% of the total surface area) as determined by the Protein Interfaces, Surfaces, and Assemblies (PISA) server [18]. Each m
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As ghrelin effects are suspected
2022-04-19
As ghrelin effects are suspected to be mediated by a heterogeneous population of G-protein-coupled-receptors [2], [21], other so far unknown subtypes of ghrelin receptors differing from the classical GHSR-1a may additionally exist that might also mediate ghrelin effects on the heart. Thus, the real
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br Conclusions br Acknowledgement Work in the
2022-04-19
Conclusions Acknowledgement Work in the authors’ labs was funded by Natural Sciences and Engineering Research Council of Canada (OGP0194652 and OGP0041653) and Diabète Québec. Introduction Fifty years ago, Sydney Brenner proposed Caenorhabditis elegans as a useful model for the study of an
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Following optimization chemicals which were considered as th
2022-04-19
Following optimization, 31 chemicals, which were considered as the skin sensitizers and non-sensitizers in LLNA studies, were studied for their potential of β-galactosidase suppression (Table 2). The detailed information on test chemicals used were given in Table 1. With optimum cell densities, E. c
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Formyl peptide receptors FPRs are a family of surface
2022-04-19
Formyl peptide receptors (FPRs) are a family of surface-expressed, G protein-coupled receptors [7]. The three members, FPR1, FPR2 and FPR3, share significant sequence homology, but have different functional properties [7]. While FPRs are mainly expressed by innate leukocytes, they are also found on
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Consistent with a similar study we found economic status
2022-04-19
Consistent with a similar study, we found economic status to be very important to domestic funding of HIV. Upper-middle-income and high-income countries are more likely to have fiscal space for health and be less reliant on external sources. Moreover, richer countries often attract larger cofinancin
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In T cells whereas SETDB is implicated
2022-04-19
In T cells, whereas SETDB1 is implicated in OX40-dependent repression of the Il17a locus in Th17 cells (Xiao et al., 2016), SUV39H1 controls Th2 cell stability by depositing H3K9me3 at the Ifng promoter (Allan et al., 2012). However, the deregulation of the Ifng locus observed in Suv39h1−/− cells c
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br Conclusions In summary our
2022-04-19
Conclusions In summary, our results demonstrate that in short term effect, TBT induced concentration-dependent vasorelaxation of HUA rings. Regarding the long term effects, exposure to a concentration of 100 μM TBT the human umbilical hyPerFUsion™ high-fidelity DNA polymerase receptor have a dua
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It is important to highlight that glucose
2022-04-19
It is important to highlight that glucose-dependent generation of OMP of high magnitudes occurs due to the voltage-gating properties of VDACs, because only small magnitudes of OMP were obtained when the VDAC voltage sensitivity was zero (Fig. 5). These results indicate a possible physiological role
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Lieber have discussed alcohol outside the context
2022-04-19
Lieber (2000), have discussed alcohol outside the context of hepatitis C infection exerts specific pathologic effects on the liver. Liver biopsies in patients with hepatitis C who drink alcohol are generally consistent with hepatitis C alone, with portal-based pathology, rather than alcoholic injury
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br GSNOR activity and functions
2022-04-18
GSNOR activity and functions The identification of the enzyme responsible for GSNO decomposition dates back to 1998, when Jensen and colleagues described an NAD(P)H-dependent GSNO catabolizing activity in cytosolic fractions obtained from rat liver [16]. Upon purification, they identified this en
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In spite of the impressive progress made
2022-04-18
In spite of the impressive progress made in DNA glycosylase assays in recent years, few of them have clearly been viable candidates for further development and implementation in biomedical research and clinical practice. Future research efforts should be devoted to devising assays with improved perf
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We noticed that the spontaneous openings of the
2022-04-18
We noticed that the spontaneous openings of the D97R α1 GlyR appeared to be quite similar to those elicited by a maximally-effective glycine concentration on wildtype GlyR; both generated similar open and shut dwell-time histograms, both exhibited openings grouped into clusters with Popen values gre
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br Discussion The GlyR is responsible for mediating
2022-04-18
Discussion The GlyR is responsible for mediating much of the neuronal inhibition in the brainstem and spinal cord, although these receptors are also found in a number of higher brain regions (Baer et al., 2009, Jonsson et al., 2012, Jonsson et al., 2009, Lynch, 2004). A variety of structurally-di
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