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Select item 107435281.

Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study

Nicoleta-Monica Popa-Fotea, Nicoleta Oprescu, Alexandru Scafa-Udriste, Miruna Mihaela Micheu

Int J Mol Sci. 2023 Dec; 24(24): 17244. Published online 2023 Dec 8. doi: 10.3390/ijms242417244

PMCID:: PMC10743528

Abstract Article PDF–312K

Select item 99504892.

Structure of human Na_V1.6 channel reveals Na⁺ selectivity and pore blockade by 4,9-anhydro-tetrodotoxin

Yue Li, Tian Yuan, Bo Huang, Feng Zhou, Chao Peng, Xiaojing Li, Yunlong Qiu, Bei Yang, Yan Zhao, Zhuo Huang, Daohua Jiang

Nat Commun. 2023; 14: 1030. Published online 2023 Feb 23. doi: 10.1038/s41467-023-36766-9

PMCID:: PMC9950489

Abstract Article PDF–3.0M

Select item 99459693.

Cryo-EM structure of human voltage-gated sodium channel Na_v1.6

Xiao Fan, Jian Huang, Xueqin Jin, Nieng Yan

Proc Natl Acad Sci U S A. 2023 Jan 31; 120(5): e2220578120. Published online 2023 Jan 25. doi: 10.1073/pnas.2220578120

PMCID:: PMC9945969

Abstract Article PDF–2.5M

Select item 93676474.

Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population

Mansour A. Alghamdi, Laith N. AL-Eitan, Ashwag Asiri, Doaa M. Rababa’h, Sultan A. Alqahtani, Mohammed S. Aldarami, Manar A. Alsaeedi, Raghad S. Almuidh, Abdulbari A. Alzahrani, Ahmad H. Sakah, Eman Mohamad El Nashar, Mansour Y. Otaif, Nawal F. Abdel Ghaffar

Ann Med. 2022; 54(1): 1938–1951. Published online 2022 Jul 8. doi: 10.1080/07853890.2022.2096257

PMCID:: PMC9367647

Abstract Article PDF–1.2M

Select item 92208235.

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

Abstract Article PDF–2.1M

Select item 85857276.

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function

Marcello Scala, Stephanie Efthymiou, Tipu Sultan, Jolien De Waele, Marta Panciroli, Vincenzo Salpietro, Reza Maroofian, Pasquale Striano, Filip Van Petegem, Henry Houlden, Frank Bosmans

Epilepsia. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Epilepsia. 2021 Jun; 62(6): e82–e87. Published online 2021 Apr 26. doi: 10.1111/epi.16913

PMCID:: PMC8585727

Abstract Article PDF–750K

Select item 81650307.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 73833828.

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

Abstract Article PDF–2.0M

Select item 67584639.

Functional and Biochemical Analysis of a Sodium Channel β1 Subunit Mutation Responsible for Generalized Epilepsy with Febrile Seizures Plus Type 1

Laurence S. Meadows, Jyoti Malhotra, Andrew Loukas, Veena Thyagarajan, Kristin A. Kazen-Gillespie, Matthew C. Koopman, Steven Kriegler, Lori L. Isom, David S. Ragsdale

J Neurosci. 2002 Dec 15; 22(24): 10699–10709. doi: 10.1523/JNEUROSCI.22-24-10699.2002

PMCID:: PMC6758463

Abstract Article PDF–423K

Select item 620136810.

SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome

Hao Yao, Jun Fan, Yun‐Jiu Cheng, Xu‐Miao Chen, Cheng‐Cheng Ji, Li‐Juan Liu, Zi‐Heng Zheng, Su‐Hua Wu

J Cell Mol Med. 2018 Nov; 22(11): 5639–5647. Published online 2018 Aug 30. doi: 10.1111/jcmm.13839

PMCID:: PMC6201368

Abstract Article PDF–701K

Select item 558754311.

Mutation E87Q of the β1-subunit impairs the maturation of the cardiac voltage-dependent sodium channel

Debora Baroni, Cristiana Picco, Oscar Moran

Sci Rep. 2017; 7: 10683. Published online 2017 Sep 6. doi: 10.1038/s41598-017-10645-y

PMCID:: PMC5587543

Abstract Article PDF–4.5M

Select item 537173012.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

Select item 474830813.

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

Jacy L. Wagnon, Bryan S. Barker, James A. Hounshell, Charlotte A. Haaxma, Amy Shealy, Timothy Moss, Sumit Parikh, Ricka D. Messer, Manoj K. Patel, Miriam H. Meisler

Ann Clin Transl Neurol. 2016 Feb; 3(2): 114–123. Published online 2015 Dec 21. doi: 10.1002/acn3.276

PMCID:: PMC4748308

Abstract Article PDF–514K

Select item 427464414.

A Connexin 40 Mutation Associated with a Malignant Variant of Progressive Familial Heart Block Type-1

Naomasa Makita, Akiko Seki, Naokata Sumitomo, Halina Chkourko, Shigetomo Fukuhara, Hiroshi Watanabe, Wataru Shimizu, Connie R. Bezzina, Can Hasdemir, Hideo Mugishima, Takeru Makiyama, Alban Baruteau, Estelle Baron, Minoru Horie, Nobuhisa Hagiwara, Arthur A.M. Wilde, Vincent Probst, Hervé Le Marec, Dan M. Roden, Naoki Mochizuki, Jean-Jacques Schott, Mario Delmar

Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2014 Dec 23.

Published in final edited form as: Circ Arrhythm Electrophysiol. 2012 Feb; 5(1): 163–172. Published online 2012 Jan 13. doi: 10.1161/CIRCEP.111.967604

PMCID:: PMC4274644

Abstract Article PDF–4.1M

Select item 420031115.

The sodium channel β1 subunit mediates outgrowth of neurite-like processes on breast cancer cells and promotes tumour growth and metastasis

Michaela Nelson, Rebecca Millican-Slater, Lorna C Forrest, William J Brackenbury

Int J Cancer. 2014 Nov 15; 135(10): 2338–2351. Published online 2014 Apr 12. doi: 10.1002/ijc.28890

PMCID:: PMC4200311

Abstract Article PDF–1.2M

Select item 400120716.

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

Gemma L. Carvill, Sarah Weckhuysen, Jacinta M. McMahon, Corinna Hartmann, Rikke S. Møller, Helle Hjalgrim, Joseph Cook, Eileen Geraghty, Brian J. O’Roak, Steve Petrou, Alison Clarke, Deepak Gill, Lynette G. Sadleir, Hiltrud Muhle, Sarah von Spiczak, Marina Nikanorova, Bree L. Hodgson, Elena V. Gazina, Arvid Suls, Jay Shendure, Leanne M. Dibbens, Peter De Jonghe, Ingo Helbig, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

Neurology. 2014 Apr 8; 82(14): 1245–1253. doi: 10.1212/WNL.0000000000000291

PMCID:: PMC4001207

Abstract Article PDF–667K

Select item 348464817.

Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysis

Nora Franceschini, Frank J.A. van Rooij, Bram P. Prins, Mary F. Feitosa, Mahir Karakas, John H. Eckfeldt, Aaron R. Folsom, Jeffrey Kopp, Ahmad Vaez, Jeanette S. Andrews, Jens Baumert, Vesna Boraska, Linda Broer, Caroline Hayward, Julius S. Ngwa, Yukinori Okada, Ozren Polasek, Harm-Jan Westra, Ying A. Wang, Fabiola Del Greco M., Nicole L. Glazer, Karen Kapur, Ido P. Kema, Lorna M. Lopez, Arne Schillert, Albert V. Smith, Cheryl A. Winkler, Lina Zgaga, The LifeLines Cohort Study, Stefania Bandinelli, Sven Bergmann, Mladen Boban, Murielle Bochud, Y.D. Chen, Gail Davies, Abbas Dehghan, Jingzhong Ding, Angela Doering, J. Peter Durda, Luigi Ferrucci, Oscar H. Franco, Lude Franke, Grog Gunjaca, Albert Hofman, Fang-Chi Hsu, Ivana Kolcic, Aldi Kraja, Michiaki Kubo, Karl J. Lackner, Lenore Launer, Laura R. Loehr, Guo Li, Christa Meisinger, Yusuke Nakamura, Christine Schwienbacher, John M. Starr, Atsushi Takahashi, Vesela Torlak, André G. Uitterlinden, Veronique Vitart, Melanie Waldenberger, Philipp S. Wild, Mirna Kirin, Tanja Zeller, Tatijana Zemunik, Qunyuan Zhang, Andreas Ziegler, Stefan Blankenberg, Eric Boerwinkle, Ingrid B. Borecki, Harry Campbell, Ian J. Deary, Timothy M. Frayling, Christian Gieger, Tamara B. Harris, Andrew A. Hicks, Wolfgang Koenig, Christopher J. O’Donnell, Caroline S. Fox, Peter P. Pramstaller, Bruce M. Psaty, Alex P. Reiner, Jerome I. Rotter, Igor Rudan, Harold Snieder, Toshihiro Tanaka, Cornelia M. van Duijn, Peter Vollenweider, Gerard Waeber, James F. Wilson, Jacqueline C.M. Witteman, Bruce H.R. Wolffenbuttel, Alan F. Wright, Qingyu Wu, Yongmei Liu, Nancy S. Jenny, Kari E. North, Janine F. Felix, Behrooz Z. Alizadeh, L. Adrienne Cupples, John R.B. Perry, Andrew P. Morris

Am J Hum Genet. 2012 Oct 5; 91(4): 744–753. doi: 10.1016/j.ajhg.2012.08.021

PMCID:: PMC3484648

Abstract Article PDF–788K

Select item 333444618.

A Novel Rare Variant in SCN1Bb Linked to Brugada Syndrome and SIDS by Combined Modulation of Na_v1.5 and K_v4.3 Channel Currents

Dan Hu, Hector Barajas-Martínez, Argelia Medeiros-Domingo, Lia Crotti, Christian Veltmann, Rainer Schimpf, Janire Urrutia, Aintzane Alday, Oscar Casis, Ryan Pfeiffer, Elena Burashnikov, Gabriel Caceres, David J. Tester, Christian Wolpert, Martin Borggrefe, Peter Schwartz, Michael J. Ackerman, Charles Antzelevitch

Heart Rhythm. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Heart Rhythm. 2012 May; 9(5): 760–769. Published online 2011 Dec 7. doi: 10.1016/j.hrthm.2011.12.006

PMCID:: PMC3334446

Abstract Article PDF–4.2M

Select item 321203419.

Voltage-Gated Na⁺ Channel β1B: A Secreted Cell Adhesion Molecule Involved in Human Epilepsy

Gustavo A. Patino, William J. Brackenbury, Yangyang Bao, Luis F. Lopez-Santiago, Heather A. O'Malley, Chunling Chen, Jeffrey D. Calhoun, Ron G. Lafrenière, Patrick Cossette, Guy A. Rouleau, Lori L. Isom

J Neurosci. 2011 Oct 12; 31(41): 14577–14591. doi: 10.1523/JNEUROSCI.0361-11.2011

PMCID:: PMC3212034

Abstract Article PDF–2.5M

Select item 317805920.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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