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We report on four affected children
2021-10-14
We report on four affected children from two unrelated consanguineous ARRY-380 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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The classical genomic effects of
2021-10-14
The classical genomic effects of GR come about through ligand-bound GR homodimerizing in the nucleus and via direct binding to GREs on the target genes, bringing about transcriptional activation or repression. Examples of target genes up-regulated by activated GR include genes encoding β2-adrenergic
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N Cadherin facilitated gap junction formation between embryo
2021-10-14
N-Cadherin facilitated gap junction formation between embryonic lens Rapalink-1 by stabilizing membrane appositions (Frenzel and Johnson, 1996). Cx43 has been found to be delivered to N-Cadherin-positive membrane HeLa cells (Shaw et al., 2007), and N-Cadherin determine the localization of Cx43 in c
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br Conflict of interest statement br Acknowledgements br
2021-10-14
Conflict of interest statement Acknowledgements Introduction Galanin is a multi-functional neuropeptide that is widely distributed in the neuroendocrine system and peripheral tissues of various species. This 29-amino-acid peptide (30 in humans) is proteolytically processed from its precurso
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The extensive worldwide research efforts in the
2021-10-13
The extensive worldwide research efforts in the decade following FFA1 de-orphaning aimed at developing clinically useful FFA1 agonists were nearly halted after Takeda’s first-in-class agent fasiglifam (TAK-875) was discontinued in phase III of human trials. On the date of submission of this manuscri
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Furthermore the immunoassays described in
2021-10-13
Furthermore, the immunoassays described in our study showed excellent concordance of more than 93.33% with the LAg-Avidity EIA (Table 2). Using a panel of samples obtained from HIV-1 seroconverters over the course of up to 602 days post-infection, the gp41 peptide-based MP3 or MP4 assay identified s
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SETDB is ubiquitously expressed in mouse
2021-10-13
SETDB1 is ubiquitously expressed in mouse tissues, and more than 900,000 ERVs are dispersed through the mouse genome. Nevertheless, the repertoire of ERVs under the control of SETDB1 was limited and highly cell-type specific. Only 17,349 ERVs were associated with H3K9me3 domains in Th2 cells. The va
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Hydroxyzine 2HCl br New design of an HIF injector
2021-10-13
New design of an HIF injector Since the invention of RFQ, RFQ-based 1 GW HIF plans have been proposed in Japan, Europe and the Soviet Union, such as HIBALL, HIDIF and HIBLIC. In these plans, driver linacs were numerous, huge and complicated. Considering the space-charge-effect of the intense heav
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faah inhibitor br We are now ready to prove the counterpart
2021-10-13
We are now ready to prove the counterpart of Proposition 6.4 for κ-collectionwise normality. This is the pointfree counterpart of the classical result, originally proved in [23], that κ-collectionwise normality is hereditary with respect to -sets. (It may be worth emphasizing that the localic p
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br Hedgehog pathway The Hedgehog pathway
2021-10-13
Hedgehog pathway The Hedgehog pathway (Fig. 1) derives its name from Hh gene mutant Drosophila, which presents a spiked phenotype resembling the animal “hedgehog” [13]. The Hh proteins control embryonic development in vertebrates, where the signaling mechanisms mediated by the proteins are multip
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br Trifluoromethylketones This group of
2021-10-13
Trifluoromethylketones This group of compounds was demonstrated to bind the zinc K-115 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 core motif for the
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Stimulation of GC A by CNP was further
2021-10-13
Stimulation of GC-A by CNP was further corroborated by using a cGMP enzyme immunoassay. We could show that CNP significantly stimulated cGMP synthesis in the GC-A reporter cell line. CNP stimulation resulted in similar maximal cGMP levels compared to stimulation by ANP and BNP. Therefore, by lumines
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br Acknowledgement br Introduction Malignant melanoma is
2021-10-13
Acknowledgement Introduction Malignant melanoma is an aggressive and highly metastatic cancer. The incidence of malignant melanoma is increasing all over the world, and the population of patients with advanced melanoma is growing [1], [2]. Malignant melanoma is often resistant to conventional
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Molecular mechanisms of decidualization have been studied fo
2021-10-13
Molecular mechanisms of decidualization have been studied for years, revealing numerous signaling pathways and transcriptional factors participated in the regulation [37,38]. As a central controller of deicdualization, FOXO1 regulates the transcription of a large number of target genes, which are in
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br Discussion Agonist and antagonist
2021-10-13
Discussion Agonist and antagonist action at the GluN1/GluN3 ptc124 is known to be complex [4], [10]. Recombinant GluN1/GluN3 receptors produce only small excitatory currents in response to glycine, likely because of a combination of activation via GluN3 and desensitization via GluN1 [2], [3], [11
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