Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Zhefu Que"'
Autor:
Zhixiong Ma, Muriel Eaton, Yushuang Liu, Jingliang Zhang, Xiaoling Chen, Xinyu Tu, Yiqiang Shi, Zhefu Que, Kyle Wettschurack, Zaiyang Zhang, Riyi Shi, Yueyi Chen, Adam Kimbrough, Nadia A. Lanman, Leah Schust, Zhuo Huang, Yang Yang
Publikováno v:
Neurobiology of Disease, Vol 168, Iss , Pp 105690- (2022)
Autism spectrum disorder (ASD) affects ~2% of the population in the US, and monogenic forms of ASD often result in the most severe manifestation of the disorder. Recently, SCN2A has emerged as a leading gene associated with ASD, of which abnormal sle
Externí odkaz:
https://doaj.org/article/e9f2b8419d55460c905c9f4e52c48026
Autor:
Xiaoling Chen, Jean-Christophe Rochet, Chongli Yuan, Layan Yunis, J Marshall Shafer, Maria I. Olivero-Acosta, Muriel Eaton, Zhefu Que, Junkai Xie, Anke M Tukker, Jingliang Zhang, Tiange Xiao, Zhuo Huang, Chang-Deng Hu, Kyle Wettschurack, Jiaxiang Wu, Yang Yang, William C. Skarnes, Aaron B. Bowman, James A. Schaber, Darci J. Trader
Publikováno v:
J Neurosci
With the wide adoption of genomic sequencing in children having seizures, an increasing number ofSCN2Agenetic variants have been revealed as genetic causes of epilepsy. Voltage-gated sodium channel Nav1.2, encoded by geneSCN2A, is predominantly expre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401b6115697095c83c5641e97b58120f
https://doi.org/10.1523/jneurosci.0564-21.2021
https://doi.org/10.1523/jneurosci.0564-21.2021
Dissertation/ Thesis
Autor:
Zhefu Que (14103123)
Epilepsies are the results of abnormal brain hyperactivities caused by brain injury, drug intoxication, and genetic perturbations. In the group of genetic-related epilepsies, the ion channel mutations contribute 25% of total epilepsy cases. Many stud
Autor:
Michael R. Ladisch, Yang Yang, Kaethe Beck, Muriel Eaton, Jeff S. McDermott, Zhefu Que, Riyi Shi, Jingliang Zhang
Publikováno v:
Pharmaceutical research. 38(7)
Pharmaceutical buffer systems, especially for injectable biologics such as monoclonal antibodies, are an important component of successful FDA-approved medications. Clinical studies indicate that buffer components may be contributing factors for incr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2aac907a0ac01edf401cbff6c9df66
https://pubmed.ncbi.nlm.nih.gov/34244893
https://pubmed.ncbi.nlm.nih.gov/34244893
Autor:
Krishna Jayant, J. Hea Lee, Tiange Xiao, James A. Schaber, Shirong Lai, Maria I. Olivero-Acosta, Zhixiong Ma, Yang Yang, Muriel Eaton, Jiayingzi Wu, Zhefu Que, Yueyang Wang, Nadia A. Lanman, T. S. Ahmad, William C. Skarnes, Xiaoling Chen, Jing Zhang, Anthony C Park, Ying Li, Zhuo Huang
Scn2a encodes voltage-gated sodium channel NaV1.2, which mediates neuronal firing. The current paradigm suggests that NaV1.2 gain-of-function variants enhance neuronal excitability resulting in epilepsy, whereas NaV1.2 deficiency impairs neuronal exc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efcd393d57f7585aa2fbba8bc79267d3
https://doi.org/10.1101/2021.02.02.429384
https://doi.org/10.1101/2021.02.02.429384
Autor:
William C. Skarnes, Jiaxiang Wu, Shirong Lai, Muriel Eaton, Huynhvi P Nguyen, Jingliang Zhang, Xiaoling Chen, Zhefu Que, Emma E Lietzke, Sophia Palant, Yang Yang, Tiange Xiao, Zhixiong Ma, Chloe Maricela Romero, Anthony C Park, Ji Hea Lee, Emily Rose Coleman, Yushuang Liu, Zhuo Huang, Wendy Ann Koss
Publikováno v:
Genes, Brain and Behavior. 20
Large-scale genetic studies revealed SCN2A as one of the most frequently mutated genes in patients with neurodevelopmental disorders. SCN2A encodes for the voltage-gated sodium channel isoform 1.2 (Nav 1.2) expressed in the neurons of the central ner
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9cf550f0066124ff9a7214b8fd2a90ce
https://doi.org/10.1111/gbb.12725
https://doi.org/10.1111/gbb.12725
Autor:
Muriel, Eaton, Jingliang, Zhang, Zhixiong, Ma, Anthony C, Park, Emma, Lietzke, Chloé M, Romero, Yushuang, Liu, Emily R, Coleman, Xiaoling, Chen, Tiange, Xiao, Zhefu, Que, Shirong, Lai, Jiaxiang, Wu, Ji Hea, Lee, Sophia, Palant, Huynhvi P, Nguyen, Zhuo, Huang, William C, Skarnes, Wendy A, Koss, Yang, Yang
Publikováno v:
Genes, brain, and behaviorREFERENCES. 20(4)
Large-scale genetic studies revealed SCN2A as one of the most frequently mutated genes in patients with neurodevelopmental disorders. SCN2A encodes for the voltage-gated sodium channel isoform 1.2 (Na
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5295c04574008c26f1bebed3bba59c02
https://pubmed.ncbi.nlm.nih.gov/33369088
https://pubmed.ncbi.nlm.nih.gov/33369088
Autor:
Muriel Eaton, Zhefu Que, Krishna Jayant, Jiaxiang Wu, Yang Yang, Xiaoling Chen, Ji Hea Lee, Yuansong Li, Tiange Xiao, Talha S. Ahmad, Nadia A. Lanman, James A. Schaber, Zhuo Huang, Zhixiong Ma, Anthony C Park, Chongli Yuan, Maria I. Olivero-Acosta, Jingliang Zhang, Shirong Lai, William C. Skarnes, Yujia Wang
Publikováno v:
Cell reports
Trends Neurosci
Trends Neurosci
SUMMARY Scn2a encodes the voltage-gated sodium channel NaV1.2, a main mediator of neuronal action potential firing. The current paradigm suggests that NaV1.2 gain-of-function variants enhance neuronal excitability, resulting in epilepsy, whereas NaV1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c898abd21ba864f71b21aeaff6f8432c
https://doi.org/10.1016/j.celrep.2021.109495
https://doi.org/10.1016/j.celrep.2021.109495
Autor:
Zhefu Que, Olivero-Acosta, Maria I., Jingliang Zhang, Eaton, Muriel, Tukker, Anke M., Xiaoling Chen, Jiaxiang Wu, Junkai Xie, Tiange Xiao, Wettschurack, Kyle, Layan Yunis, Shafer, J. Marshall, Schaber, James A., Rochet, Jean-Christophe, Bowman, Aaron B., Chongli Yuan, Zhuo Huang, Chang-Deng Hu, Trader, Darci J., Skarnes, William C.
Publikováno v:
Journal of Neuroscience; 12/8/2021, Vol. 41 Issue 49, p10194-10208, 15p