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Proficiency and the Use of Machine Translation: A Case Study of Four Japanese Learners
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In: L2 Journal, vol 14, iss 1 (2022)
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| 2 |
Discovering Dialog Structure Graph for Coherent Dialog Generation ...
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Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy
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Additional file 1: of High HIV incidence epidemic among men who have sex with men in china: results from a multi-site cross-sectional study ...
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Additional file 1: of High HIV incidence epidemic among men who have sex with men in china: results from a multi-site cross-sectional study ...
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Patient Mutations of the Intellectual Disability Gene KDM5C Down-Regulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells
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Abstract:
The X-linked KDM5C gene plays an important role in brain development and behavior. It encodes a histone demethylase that is involved in gene regulation in neuronal differentiation and morphogenesis. When mutated, it causes neuropsychiatric symptoms, such as intellectual disability, delayed language development, epilepsy, and impulsivity. To better understand how the patient mutations affect neuronal development, we expressed KDM5C mutations in Neuro2a cells, a mouse neuroblastoma cell line. Retinoic acid (RA) induced-neurite growth was suppressed by the mutation KDM5CY751C, KDM5CH514A, and KDM5CF642L, but not KDM5CD87G or KDM5CA388P. RNA-seq analysis indicated an up-regulation of genes important for neuronal development, such as Ntng2, Enah, Gas1, Slit2, and Dscam, in response to the RA treatment in control Neuro2a cells transfected with GFP or wild type KDM5C. In contrast, in cells transfected with KDM5CY751C, these genes were not up-regulated by RA. Ntng2 was down-regulated in cells with KDM5C mutations, concordant with the lower levels of H3K4 methylation at its promoter. Moreover, knocking down Ntng2 in control Neuro2a cells led to the phenotype of short neurites similar to that of cells with KDM5CY751C, whereas Ntng2 overexpression in the mutant cells rescued the morphological phenotype. These findings provide new insight into the pathogenesis of phenotypes associated with KDM5C mutations.
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Keyword:
Article
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URL: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412133/
http://www.ncbi.nlm.nih.gov/pubmed/27421841
https://doi.org/10.1007/s12031-016-0770-3
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| 8 |
A Study of Neural Word Embeddings for Named Entity Recognition in Clinical Text
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| 15 |
进入傅雷译作 ; : Donner accès à l'oeuvre de Fu Lei
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In: 傅雷的精神世界及其时代意义 (Le monde spirituel de Fu Lei et sa signification dans le temps) ; https://halshs.archives-ouvertes.fr/halshs-00685093 ; 许均 (XU Jun). 傅雷的精神世界及其时代意义 (Le monde spirituel de Fu Lei et sa signification dans le temps), 中西书局, 上海 (Publication de l'Ouest, Shanghai), pp.351-366, 2011 (2011)
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Displaying overt recipiency: reactive tokens in Mandarin task-oriented conversation
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The prosody of interrogatives at transition-relevance places in Mandarin Chinese conversation
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