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Items: 1 to 20 of 42

1.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
2.
Complex Synaptic and Intrinsic Interactions Disrupt Input/Output Functions in the Hippocampus of Scn1b Knock-Out Mice
Jessica Hotard Chancey, Alisha A. Ahmed, Fernando Isaac Guillén, Vighnesh Ghatpande, MacKenzie A. Howard
J Neurosci. 2023 Dec 6; 43(49): 8562–8577. doi: 10.1523/JNEUROSCI.0786-23.2023
PMCID:
PMC10711733
AbstractArticlePDF–4.5M
3.
Heterogeneity of voltage gated sodium current density between neurons decorrelates spiking and suppresses network synchronization in Scn1b null mouse models
Jacob M. Hull, Nicholas Denomme, Yukun Yuan, Victoria Booth, Lori L. Isom
Sci Rep. 2023; 13: 8887. Published online 2023 Jun 1. doi: 10.1038/s41598-023-36036-0
PMCID:
PMC10235421
AbstractArticlePDF–10M
4.
Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub
Marc P. Forrest, Marc Dos Santos, Nicolas H. Piguel, Yi-Zhi Wang, Nicole A. Hawkins, Vikram A. Bagchi, Leonardo E. Dionisio, Sehyoun Yoon, Dina Simkin, Maria Dolores Martin-de-Saavedra, Ruoqi Gao, Katherine E. Horan, Alfred L. George, Jr., Mark S. LeDoux, Jennifer A. Kearney, Jeffrey N. Savas, Peter Penzes
Nat Commun. 2023; 14: 825. Published online 2023 Feb 17. doi: 10.1038/s41467-023-36087-x
PMCID:
PMC9938216
AbstractArticlePDF–5.3M
5.
Tmem65 is critical for the structure and function of the intercalated discs in mouse hearts
Allen C. T. Teng, Liyang Gu, Michelle Di Paola, Robert Lakin, Zachary J. Williams, Aaron Au, Wenliang Chen, Neal I. Callaghan, Farigol Hakem Zadeh, Yu-Qing Zhou, Meena Fatah, Diptendu Chatterjee, L. Jane Jourdan, Jack Liu, Craig A. Simmons, Thomas Kislinger, Christopher M. Yip, Peter H. Backx, Robert G. Gourdie, Robert M. Hamilton, Anthony O. Gramolini
Nat Commun. 2022; 13: 6166. Published online 2022 Oct 18. doi: 10.1038/s41467-022-33303-y
PMCID:
PMC9579145
AbstractArticlePDF–11M
6.
Neonatal Scn1b-null mice have sinoatrial node dysfunction, altered atrial structure, and atrial fibrillation
Roberto Ramos-Mondragon, Nnamdi Edokobi, Samantha L. Hodges, Shuyun Wang, Alexandra A. Bouza, Chandrika Canugovi, Caroline Scheuing, Lena Juratli, William R. Abel, Sami F. Noujaim, Nageswara R. Madamanchi, Marschall S. Runge, Luis F. Lopez-Santiago, Lori L. Isom
JCI Insight. 2022 May 23; 7(10): e152050. Published online 2022 May 23. doi: 10.1172/jci.insight.152050
PMCID:
PMC9220823
AbstractArticlePDF–2.1M
7.
Scn1b expression in the adult mouse heart modulates Na+ influx in myocytes and reveals a mechanistic link between Na+ entry and diastolic function
Daniel O. Cervantes, Emanuele Pizzo, Harshada Ketkar, Sreema P. Parambath, Samantha Tang, Eleonora Cianflone, Antonio Cannata, Govindaiah Vinukonda, Sudhir Jain, Jason T. Jacobson, Marcello Rota
Am J Physiol Heart Circ Physiol. 2022 Jun 1; 322(6): H975–H993. Published online 2022 Apr 8. doi: 10.1152/ajpheart.00465.2021
PMCID:
PMC9076421
AbstractArticle
8.
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development
Francesco Bedogni, Robert F. Hevner
Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034
PMCID:
PMC8313239
AbstractArticlePDF–1.6M
9.
Sodium channel β1 subunits participate in regulated intramembrane proteolysis-excitation coupling
Alexandra A. Bouza, Nnamdi Edokobi, Samantha L. Hodges, Alexa M. Pinsky, James Offord, Lin Piao, Yan-Ting Zhao, Anatoli N. Lopatin, Luis F. Lopez-Santiago, Lori L. Isom
JCI Insight. 2021 Feb 8; 6(3): e141776. Published online 2021 Feb 8. doi: 10.1172/jci.insight.141776
PMCID:
PMC7934843
AbstractArticlePDF–2.1M
10.
Excitatory and inhibitory neuron defects in a mouse model of Scn1b‐linked EIEE52
Jacob M. Hull, Heather A. O’Malley, Chunling Chen, Yukun Yuan, Nicholas Denomme, Alexandra A. Bouza, Charles Anumonwo, Luis F. Lopez‐Santiago, Lori L. Isom
Ann Clin Transl Neurol. 2020 Nov; 7(11): 2137–2149. Published online 2020 Sep 26. doi: 10.1002/acn3.51205
PMCID:
PMC7664274
AbstractArticlePDF–3.3M
11.
Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation, S-palmitoylation, and regulated intramembrane proteolysis
Alexandra A. Bouza, Julie M. Philippe, Nnamdi Edokobi, Alexa M. Pinsky, James Offord, Jeffrey D. Calhoun, Mariana Lopez-Florán, Luis F. Lopez-Santiago, Paul M. Jenkins, Lori L. Isom
J Biol Chem. 2020 Jul 24; 295(30): 10380–10393. Published online 2020 Jun 5. doi: 10.1074/jbc.RA120.013978
PMCID:
PMC7383382
AbstractArticlePDF–2.0M
12.
Mice Lacking Sodium Channel β1 Subunits Display Defects in Neuronal Excitability, Sodium Channel Expression, and Nodal Architecture
Chunling Chen, Ruth E. Westenbroek, Xiaorong Xu, Chris A. Edwards, Dorothy R. Sorenson, Yuan Chen, Dyke P. McEwen, Heather A. O'Malley, Vandana Bharucha, Laurence S. Meadows, Gabriel A. Knudsen, Alex Vilaythong, Jeffrey L. Noebels, Thomas L. Saunders, Todd Scheuer, Peter Shrager, William A. Catterall, Lori L. Isom
J Neurosci. 2004 Apr 21; 24(16): 4030–4042. doi: 10.1523/JNEUROSCI.4139-03.2004
PMCID:
PMC6729427
AbstractArticlePDF–1.0M
13.
Voltage-Gated Na+ Channel β1 Subunit-Mediated Neurite Outgrowth Requires Fyn Kinase and Contributes to Postnatal CNS Development In Vivo
William J. Brackenbury, Tigwa H. Davis, Chunling Chen, Emily A. Slat, Matthew J. Detrow, Travis L. Dickendesher, Barbara Ranscht, Lori L. Isom
J Neurosci. 2008 Mar 19; 28(12): 3246–3256. doi: 10.1523/JNEUROSCI.5446-07.2008
PMCID:
PMC6670697
AbstractArticlePDF–477K
14.
Efficacy Loss of the Anticonvulsant Carbamazepine in Mice Lacking Sodium Channel β Subunits via Paradoxical Effects on Persistent Sodium Currents
Mischa Uebachs, Thoralf Opitz, Michel Royeck, Gesa Dickhof, Marie-Therese Horstmann, Lori L. Isom, Heinz Beck
J Neurosci. 2010 Jun 23; 30(25): 8489–8501. doi: 10.1523/JNEUROSCI.1534-10.2010
PMCID:
PMC6634624
AbstractArticlePDF–2.7M
15.
Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome
Yukun Yuan, Heather A. O’Malley, Melissa A. Smaldino, Alexandra A. Bouza, Jacob M. Hull, Lori L. Isom
Sci Rep. 2019; 9: 6210. Published online 2019 Apr 17. doi: 10.1038/s41598-019-42191-0
PMCID:
PMC6470170
AbstractArticlePDF–2.4M
16.
Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice
Ikuo Ogiwara, Hiroyuki Miyamoto, Tetsuya Tatsukawa, Tetsushi Yamagata, Tojo Nakayama, Nafiseh Atapour, Eriko Miura, Emi Mazaki, Sara J. Ernst, Dezhi Cao, Hideyuki Ohtani, Shigeyoshi Itohara, Yuchio Yanagawa, Mauricio Montal, Michisuke Yuzaki, Yushi Inoue, Takao K. Hensch, Jeffrey L. Noebels, Kazuhiro Yamakawa
Commun Biol. 2018; 1: 96. Published online 2018 Jul 19. doi: 10.1038/s42003-018-0099-2
PMCID:
PMC6115194
AbstractArticlePDF–3.5M
17.
Mapt deletion fails to rescue premature lethality in two models of sodium channel epilepsy
Chunling Chen, Jerrah K. Holth, Rosie Bunton‐Stasyshyn, Charles K. Anumonwo, Miriam H. Meisler, Jeffrey L. Noebels, Lori L. Isom
Ann Clin Transl Neurol. 2018 Aug; 5(8): 982–987. Published online 2018 Jul 5. doi: 10.1002/acn3.599
PMCID:
PMC6093838
AbstractArticlePDF–222K
18.
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients
Maria Teresa Ricci, Silvia Menegon, Simona Vatrano, Giorgia Mandrile, Natascia Cerrato, Paula Carvalho, Mario De Marchi, Fiorenzo Gaita, Carla Giustetto, Daniela Francesca Giachino
Sci Rep. 2014; 4: 6470. Published online 2014 Sep 25. doi: 10.1038/srep06470
PMCID:
PMC5377327
AbstractArticlePDF–566K
19.
β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function
Larisa C. Kruger, Heather A. O'Malley, Jacob M. Hull, Amanda Kleeman, Gustavo A. Patino, Lori L. Isom
J Neurosci. 2016 Jun 8; 36(23): 6213–6224. doi: 10.1523/JNEUROSCI.0405-16.2016
PMCID:
PMC4899524
AbstractArticlePDF–3.4M
20.
SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients
Soha Namazi, Negar Azarpira, Katayoon Javidnia, Mehrdad Emami, Rahimeh Rahjoo, Razieh Berahmand, Afshin Borhani-Haghighi
Iran J Basic Med Sci. 2015 Dec; 18(12): 1215–1220.
PMCID:
PMC4744361
AbstractArticle

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