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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 Hits 1 – 20 of 23 1 Proficiency and the Use of Machine Translation: A Case Study of Four Japanese Learners Xu, Jun In: L2 Journal, vol 14, iss 1 (2022) BASE Show details 2 Discovering Dialog Structure Graph for Coherent Dialog Generation ... The Joint Conference of the 59th Annual Meeting of the Association for Computational Linguistics and the 11th International Joint Conference on Natural Language Processing 2021; Xu, Jun. - : Underline Science Inc., 2021 BASE Show details 3 Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy Xu, Xing-Xing; Liu, Xiao-Rong; Fan, Cui-Ying; Lai, Jin-Xing; Shi, Yi-Wu; Yang, Wei; Su, Tao; Xu, Jun-Yu; Luo, Jian-Hong; Liao, Wei-Ping. - : Springer Singapore, 2017 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 BASE Hide details 4 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 ... Xu, Jun-Jie; Tang, Wei-Ming; Zou, Hua-Chun. - : Figshare, 2016 BASE Show details 5 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 ... Xu, Jun-Jie; Tang, Wei-Ming; Zou, Hua-Chun. - : Figshare, 2016 BASE Show details 6 Semantic Regularities in Document Representations ... Sun, Fei; Guo, Jiafeng; Lan, Yanyan. - : arXiv, 2016 BASE Show details 7 Patient Mutations of the Intellectual Disability Gene KDM5C Down-Regulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells Wei, Gengze; Deng, Xinxian; Agarwal, Saurabh. - 2016 BASE Show details 8 A Study of Neural Word Embeddings for Named Entity Recognition in Clinical Text Wu, Yonghui; Xu, Jun; Jiang, Min. - : American Medical Informatics Association, 2015 BASE Show details 9 Citation Sentiment Analysis in Clinical Trial Papers Xu, Jun; Zhang, Yaoyun; Wu, Yonghui. - : American Medical Informatics Association, 2015 BASE Show details 10 Displaying status of recipiency through reactive tokens in Mandarin task-oriented interaction Xu, Jun In: Journal of pragmatics. - Amsterdam [u.a.] : Elsevier 74 (2014), 33-51 OLC Linguistik Show details 11 Displaying status of recipiency through reactive tokens in Mandarin task-oriented interaction Xu, Jun In: Journal of Pragmatics 74 (2014), 33-51 IDS Bibliografie zur Gesprächsforschung 12 Fault diagnosability of arrangement graphs Zhou, Shuming; Xu, Jun-Ming In: Information sciences. - New York, NY : Elsevier Science Inc. 246 (2013), 177-190 OLC Linguistik Show details 13 Fault-tolerant edge-pancyclicity of locally twisted cubes Xu, Xirong; Zhai, Wenhua; Xu, Jun-Ming... In: Information sciences. - New York, NY : Elsevier Science Inc. 181 (2011) 11, 2268-2277 OLC Linguistik Show details 14 Austen's fans and fans' Austen Xu, Jun In: Journal of literary semantics. - Berlin [u.a.] : Mouton De Gruyter 40 (2011) 1, 81-97 BLLDB OLC Linguistik Show details 15 进入傅雷译作 ; : Donner accès à l'oeuvre de Fu Lei Miao, Jun; Gerdes, Kim 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) BASE Show details 16 Edge-fault-tolerant bipanconnectivity of hypercubes Wang, Hai-Liang; Wang, Jian-Wei; Xu, Jun-Ming In: Information sciences. - New York, NY : Elsevier Science Inc. 179 (2009) 4, 404-409 OLC Linguistik Show details 17 Displaying overt recipiency: reactive tokens in Mandarin task-oriented conversation Xu, Jun. - 2009 BASE Show details 18 The prosody of interrogatives at transition-relevance places in Mandarin Chinese conversation Xu, Jun. - 2008 BASE Show details 19 Natural Language Understanding of Spatial Relations Between Linear Geographic Objects Xu, Jun; Mark, David M In: Spatial cognition and computation. - Philadelphia, Pa. : Taylor & Francis 7 (2007) 4, 311-348 OLC Linguistik Show details 20 Natural language understanding of spatial relations between linear geographic objects Xu, Jun; Mark, David M. In: Spatial cognition and computation. - Philadelphia, Pa. : Taylor & Francis 7 (2007) 4, 311-347 BLLDB Show details Page: 1 2

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