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1
Fuzzy Evaluation Output of Taste Information for Liquor Using Electronic Tongue Based on Cloud Model
BASE
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2
Review of Translation Criticism: In Search of a Practical Approach
Cui, Ying [Verfasser]. - Saarbrücken : 金琅学术出版社, 2017
DNB Subject Category Language
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3
Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy
Abstract: N-methyl-D-aspartate receptors (NMDARs), a subtype of glutamate-gated ion channels, play a central role in epileptogenesis. Recent studies have identified an increasing number of GRIN2A (a gene encoding the NMDAR GluN2A subunit) mutations in patients with epilepsy. Phenotypes of GRIN2A mutations include epilepsy-aphasia disorders and other epileptic encephalopathies, which pose challenges in clinical treatment. Here we identified a heterozygous GRIN2A mutation (c.1341T>A, p.N447K) from a boy with Rolandic epilepsy by whole-exome sequencing. The patient became seizure-free with a combination of valproate and lamotrigine. Functional investigation was carried out using recombinant NMDARs containing a GluN2A-N447K mutant that is located in the ligand-binding domain of the GluN2A subunit. Whole-cell current recordings in HEK 293T cells revealed that the N447K mutation increased the NMDAR current density by ~1.2-fold, enhanced the glutamate potency by 2-fold, and reduced the sensitivity to Mg(2+) inhibition. These results indicated that N447K is a gain-of-function mutation. Interestingly, alternative substitutions by alanine and glutamic acid at the same residue (N447A and N447E) did not change NMDAR function, suggesting a residual dependence of this mutation in altering NMDAR function. Taken together, this study identified human GluN2A N447K as a novel mutation associated with epilepsy and validated its functional consequences in vitro. Identification of this mutation is also helpful for advancing our understanding of the role of NMDARs in epilepsy and provides new insights for precision therapeutics in epilepsy.
Keyword: Original Article
URL: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856713/
http://www.ncbi.nlm.nih.gov/pubmed/28936771
https://doi.org/10.1007/s12264-017-0182-6
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4
Handbook of research on teaching methods in language translation and interpretation
Cui, Ying (Hrsg.); Zhao, Wei (Hrsg.). - 2015
BLLDB
UB Frankfurt Linguistik
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5
A contextual perspective on presupposition, with reference to translation studies
In: Stellenbosch Papers in Linguistics Plus, Vol 43, Iss 0, Pp 31-42 (2014) (2014)
BASE
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6
Memorability in the Translation of Advertising Texts: Analysis from the Perspective of Presupposition
In: The interpreter and translator trainer. - Manchester [u.a.] : St. Jerome Publ. 7 (2013) 2, 324
OLC Linguistik
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7
Development of a scale to measure parents' perceptions of their children's self-concept
Fok, Joyce J. - : University of Alberta. Department of Speech Pathology and Audiology., 2013
BASE
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8
Development of a scale to measure parents' perceptions of their children's self-concept
Fok, Joyce J. - : University of Alberta. Department of Speech Pathology and Audiology., 2013
BASE
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9
Differences in the transference of humor and personification in advertisement translation
In: Journal of language & translation. - Seoul 11 (2010) 2, 47-69
BLLDB
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10
The goal of advertisement translation: with reference to C-E/E-C advertisements
In: Journal of language & translation. - Seoul 10 (2009) 2, 7-33
BLLDB
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11
'Rewriting' in advertisement translation - analysis from the perspective of presupposition
In: Perspectives. - Abingdon : Routledge, Taylor & Francis Group 16 (2008) 1-2, 21-38
BLLDB
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