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This study was approved by our institutional
2022-01-29
This study was approved by our institutional ethics committee, and informed consent was obtained from each participant or legal guardian. We performed whole-genome SNP genotyping in the one unaffected and two affected siblings by using the Illumina Human 610 Genotyping BeadChip panel, which interrog
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In mammals the primary cilium
2022-01-29
In mammals, the primary cilium is considered a hub for signal transduction. The cilium has previous been associated with transduction of several pathways including Wnt (Corbit et al., 2008, McDermott et al., 2010, Tran et al., 2014), PDGF (Clement et al., 2013, Schneider et al., 2010, Schneider et a
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br Role of ghrelin in reward and addiction
2022-01-29
Role of ghrelin in reward and addiction In addition to its well-known effects on PPY A receptor homeostasis regulation at the hypothalamic level [reviews in (Al Massadi et al., 2017, Muller et al., 2015)], ghrelin also has the ability to increase food motivation acting on hypothalamic and extra-
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Cx is a phosphoprotein that is predominantly phosphorylated
2022-01-29
Cx43 is a phosphoprotein that is predominantly phosphorylated in the control state. Cx43 can be phosphorylated by a number of kinases and dephosphorylated by protein phosphatases such as PP1 and PP2A [6], [10]. Posttranslational phosphorylation of Cx43 is thought to influence intercellular coupling
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Optimization of the tetrahydroindazole series led to the dis
2022-01-29
Optimization of the tetrahydroindazole series led to the discovery of two moderately potent γ-secretase modulators, 2-cyclobutane and 2-hydroxy-2-methylpropane which were subsequently evaluated in a kinetic aqueous solubility assay. Unfortunately, neither analog demonstrated improved solubility ().
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Interestingly myorelaxation and the stimulation of cGMP prod
2022-01-28
Interestingly, myorelaxation and the stimulation of cGMP production are properties also reported for sGC stimulators, such as YC-1 and BAY 41–2272 (i.e., indazole compounds that were discovered in the 1990s) [35]. They relax aortic ring contractions induced by phenylephrine, and their effects are si
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An interesting question is why
2022-01-28
An interesting question is why RhoF has such the slow rate of GDP dissociation. The amino Posaconazole receptor mutations in a presumable GDP-binding site of RhoF had only moderate effects on the GDP dissociation (Fig. 3C), which suggests a mechanism involving the global amino acid sequence of RhoF
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br Material and methods br Results and discussion Unlike
2022-01-28
Material and methods Results and discussion Unlike many fruits such as bananas and tomatoes, known as climacteric fruits, in which ripening is regulated by a burst of Dacarbazine biosynthesis and an increase in respiration, pepper fruits, which do not follow this pattern, are called non-climac
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In addition researchers studying GPR agonists favor
2022-01-28
In addition, researchers studying GPR119 agonists favor the developing of candidate drugs that are more potent than DPP-4 inhibitors given that the latter are moderate agents in the treatment of DM. Although it paricalcitol is unclear why Sanofi-Aventis chose to terminate collaboration with Metabol
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To investigate if such an effect
2022-01-28
To investigate if such an effect is observed in native GlyT1, we introduced S605D and S605A mutations into GlyT1 and transfected these DNA constructs into N2a cells. For an internal control of calpain cleavage, we also introduced the first 100 amino-acids of the rat GlyT2N terminus upstream of the m
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LFFs associating with green algae utilize polyols therefore
2022-01-28
LFFs associating with green algae utilize polyols; therefore, we hypothesize that at least one polyol transport system is conserved in LFFs and it is required for the lichenization events that occur widely and independently in Ascomycota. Thus, the present study aimed to first evaluate phylogenetic
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In this study with the use of C
2022-01-28
In this study, with the use of 13C515N2-labeled glutamine, we observed that 13C515N2-labeled glutamine produces a wide range of NAAG isotopologues and its precursors: NAA and glutamate. The NAAG production from glutamine is consistently more elevated in MYC-ON lymphoma and OVCAR4 compared to MYC-OFF
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We report here a patient with a one
2022-01-28
We report here a patient with a one-base frame-shift deletion in the PURA gene that presented an unusual phenotype including persistent hypoglycorrhachia. We propose a possible link between hypoglycorrhachia and PURA dysfunction postulating PURA as a GLUT1 regulator. We therefore hypothesize that mu
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br A myriad of receptors in WM To complicate the
2022-01-28
A myriad of receptors in WM To complicate the picture, WM glia express numerous non-glutamatergic neurotransmitter receptors, a fact that is often underappreciated when considering pathophysiology. When examined in isolated optic nerve, a central WM tract completely devoid of neuronal synapses, r
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His brother individual B II is months old He was
2022-01-28
His brother, individual B.II-4, is 11 months old. He was born at term with intrauterine growth retardation. His birth weight was 2.2 kg (T (p. Arg176Trp) variant in SLC45A1 (GenBank: NM_001080397.1). This variant is very rare (MAF = 0.00001660 in the ExAC Browser) and predicted to be damaging by Pol
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