Zobrazeno 1 - 10
of 164
pro vyhledávání: '"Jack M. Parent"'
Autor:
Wei Niu, Lu Deng, Sandra P. Mojica-Perez, Andrew M. Tidball, Roksolana Sudyk, Kyle Stokes, Jack M. Parent
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
IntroductionProtocadherin-19 (PCDH19)-Clustering Epilepsy (PCE) is a developmental and epileptic encephalopathy caused by loss-of-function variants of the PCDH19 gene on the X-chromosome. PCE affects females and mosaic males while male carriers are l
Externí odkaz:
https://doaj.org/article/395f09dd4fa84851b5504c0fb0d96b38
Autor:
Chloe E. Hill, Chun Chieh Lin, Samuel W. Terman, Darin Zahuranec, Jack M. Parent, Lesli E. Skolarus, James F. Burke
Publikováno v:
Epilepsia Open, Vol 8, Iss 3, Pp 1096-1110 (2023)
Abstract Objective For people with drug‐resistant epilepsy, the use of epilepsy surgery is low despite favorable odds of seizure freedom. To better understand surgery utilization, we explored factors associated with inpatient long‐term EEG monito
Externí odkaz:
https://doaj.org/article/0aeda68a99c44181bdd515ab645d3651
Autor:
Taylor N. Takla, Jinghui Luo, Roksolana Sudyk, Joy Huang, John Clayton Walker, Neeta L. Vora, Jonathan Z. Sexton, Jack M. Parent, Andrew M. Tidball
Publikováno v:
Cells, Vol 12, Iss 13, p 1697 (2023)
Neural tube defects (NTDs), including anencephaly and spina bifida, are common major malformations of fetal development resulting from incomplete closure of the neural tube. These conditions lead to either universal death (anencephaly) or severe life
Externí odkaz:
https://doaj.org/article/6b660141cc184f70883f2ddb8aabac0e
Autor:
Heather A. O'Malley, Jacob M. Hull, Brittany C. Clawson, Chunling Chen, Gic Owens‐Fiestan, Margaret B. Jameson, Sara J. Aton, Jack M. Parent, Lori L. Isom
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 6, Pp 1121-1126 (2019)
Abstract Pathogenic loss‐of‐function variants in SCN1B are linked to Dravet syndrome (DS). Previous work suggested that neuronal pathfinding defects underlie epileptogenesis and SUDEP in the Scn1b null mouse model of DS. We tested this hypothesis
Externí odkaz:
https://doaj.org/article/f5bde058212248008bc631fb1ce63f5d
Autor:
Louis T. Dang, Katarzyna M. Glanowska, Philip H. Iffland II, Allan E. Barnes, Marianna Baybis, Yu Liu, Gustavo Patino, Shivanshi Vaid, Alexandra M. Streicher, Whitney E. Parker, Seonhee Kim, Uk Yeol Moon, Frederick E. Henry, Geoffrey G. Murphy, Michael Sutton, Jack M. Parent, Peter B. Crino
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2020)
mTORopathies are a heterogeneous group of neurological disorders characterized by malformations of cortical development (MCD), enhanced cellular mechanistic target of rapamycin (mTOR) signaling, and epilepsy that results from mutations in mTOR pathwa
Externí odkaz:
https://doaj.org/article/53413016f1094d83a21051ee639df779
Autor:
Chad R. Frasier, Helen Zhang, James Offord, Louis T. Dang, David S. Auerbach, Huilin Shi, Chunling Chen, Alica M. Goldman, L. Lee Eckhardt, Vassilios J. Bezzerides, Jack M. Parent, Lori L. Isom
Publikováno v:
Stem Cell Reports, Vol 11, Iss 3, Pp 626-634 (2018)
Summary: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy with a high incidence of sudden unexpected death in epilepsy (SUDEP). Most DS patients carry de novo variants in SCN1A, resulting in Nav1.1 haploinsufficiency. Becau
Externí odkaz:
https://doaj.org/article/07288fb6d8ef4122a9900913bc877096
Autor:
Xiao-Feng Zhao, Rafi Kohen, Rachel Parent, Yuntao Duan, Grace L. Fisher, Matthew J. Korn, Lingchao Ji, Guoqiang Wan, Jing Jin, Andreas W. Püschel, David F. Dolan, Jack M. Parent, Gabriel Corfas, Geoffrey G. Murphy, Roman J. Giger
Publikováno v:
Cell Reports, Vol 22, Iss 2, Pp 456-470 (2018)
Summary: Dentate gyrus (DG) development requires specification of granule cell (GC) progenitors in the hippocampal neuroepithelium, as well as their proliferation and migration into the primordial DG. We identify the Plexin family members Plxna2 and
Externí odkaz:
https://doaj.org/article/1d9cf1b3dbc64b379b90461756c2f796
Autor:
Andrew M. Tidball, Louis T. Dang, Trevor W. Glenn, Emma G. Kilbane, Daniel J. Klarr, Joshua L. Margolis, Michael D. Uhler, Jack M. Parent
Publikováno v:
Stem Cell Reports, Vol 9, Iss 3, Pp 725-731 (2017)
Specifically ablating genes in human induced pluripotent stem cells (iPSCs) allows for studies of gene function as well as disease mechanisms in disorders caused by loss-of-function (LOF) mutations. While techniques exist for engineering such lines,
Externí odkaz:
https://doaj.org/article/5242b95b4a4946f5a8fdb5aab5823ec7
Publikováno v:
Cell Reports, Vol 20, Iss 6, Pp 1262-1268 (2017)
Local interneurons control principal cells within individual brain areas, but anecdotal observations indicate that interneuronal axons sometimes extend beyond strict anatomical boundaries. Here, we use the case of the dentate gyrus (DG) to show that
Externí odkaz:
https://doaj.org/article/02f3123e50b643aba3f2281bc7cbae2d
Publikováno v:
Epigenetics, Vol 12, Iss 7, Pp 551-560 (2017)
The 5-methylcytosine (5mC) modification regulates multiple cellular processes and is faithfully maintained following DNA replication. In addition to DNA methyltransferase (DNMT) family proteins, ubiquitin-like PHD and ring finger domain-containing pr
Externí odkaz:
https://doaj.org/article/0d9ae8732cde45c9a98a33fcc4410a7c