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Items: 1 to 20 of 57

1.
Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria
Atsuko Noguchi, Tohru Tezuka, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Takeshi Yoshida, Shinji Akioka, Keiko Wada, Aya Takeya, Risako Kabata-Murasawa, Daiki Kondo, Ken Ishikawa, Takeshi Asano, Michimasa Fujiwara, Nozomi Hishikawa, Tomoyuki Mizukami, Toshiaki Hitomi, Shohab Youssefian, Yoshihiro Nagai, Manabu Tanaka, Kaoru Eto, Hideaki Shiraishi, Fumimasa Amaya, Akio Koizumi, Tsutomu Takahashi
Int J Mol Sci. 2024 Jul; 25(13): 6832. Published online 2024 Jun 21. doi: 10.3390/ijms25136832
PMCID:
PMC11241565
AbstractArticlePDF–1.7M
2.
Pathogenic mutations perturb calmodulin regulation of Nav1.8 channel
Liang Hong, Meihong Zhang, Arvind Sridhar, Dawood Darbar
Biochem Biophys Res Commun. Author manuscript; available in PMC 2024 Apr 23.
Published in final edited form as: Biochem Biophys Res Commun. 2020 Nov 26; 533(1): 168–174. Published online 2020 Sep 15. doi: 10.1016/j.bbrc.2020.08.010
PMCID:
PMC11038804
AbstractArticlePDF–1.2M
3.
Molecular and Functional Relevance of NaV1.8-Induced Atrial Arrhythmogenic Triggers in a Human SCN10A Knock-Out Stem Cell Model
Nico Hartmann, Maria Knierim, Wiebke Maurer, Nataliya Dybkova, Gerd Hasenfuß, Samuel Sossalla, Katrin Streckfuss-Bömeke
Int J Mol Sci. 2023 Jun; 24(12): 10189. Published online 2023 Jun 15. doi: 10.3390/ijms241210189
PMCID:
PMC10299073
AbstractArticlePDF–3.0M
4.
Patient-specific induced pluripotent stem cell properties implicate Ca2+-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants
Yafei Zhou, Wenjun Huang, Leiying Liu, Anmao Li, Congshan Jiang, Rui Zhou, Jie Wang, Xiaoqiu Tan, Christopher L.-H. Huang, Yanmin Zhang
Philos Trans R Soc Lond B Biol Sci. June 19, 2023; 378(1879): 20220175. Published online May 01, 2023. doi: 10.1098/rstb.2022.0175
PMCID:
PMC10150201
AbstractArticlePDF–996K
5.
Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan
Ansa Rabia, Ricardo Harripaul, Anna Mikhailov, Saqib Mahmood, Shazia Maqbool, John B. Vincent, Muhammad Ayub
Genes (Basel) 2022 Sep; 13(9): 1633. Published online 2022 Sep 11. doi: 10.3390/genes13091633
PMCID:
PMC9498319
AbstractArticlePDF–905K
6.
Proteome‐scale mapping of binding sites in the unstructured regions of the human proteome
Caroline Benz, Muhammad Ali, Izabella Krystkowiak, Leandro Simonetti, Ahmed Sayadi, Filip Mihalic, Johanna Kliche, Eva Andersson, Per Jemth, Norman E Davey, Ylva Ivarsson
Mol Syst Biol. 2022 Jan; 18(1): e10584. Published online 2022 Jan 19. doi: 10.15252/msb.202110584
PMCID:
PMC8769072
AbstractArticlePDF–2.9M
7.
Common variants in SCN10A gene associated with Brugada syndrome
Yan Huang, Xiao-Meng Chen, Hector Barajas-Martinez, Hong Jiang, Charles Antzelevitch, Dan Hu
Hum Mol Genet. 2022 Jan 15; 31(2): 157–165. Published online 2021 Jul 26. doi: 10.1093/hmg/ddab217
PMCID:
PMC8743002
AbstractArticlePDF–610K
8.
Contributions of NaV1.8 and NaV1.9 to excitability in human induced pluripotent stem-cell derived somatosensory neurons
Matthew Alsaloum, Julie I. R. Labau, Shujun Liu, Mark Estacion, Peng Zhao, Fadia Dib-Hajj, Stephen G. Waxman
Sci Rep. 2021; 11: 24283. Published online 2021 Dec 20. doi: 10.1038/s41598-021-03608-x
PMCID:
PMC8688473
AbstractArticlePDF–4.3M
9.
Detrimental proarrhythmogenic interaction of Ca2+/calmodulin-dependent protein kinase II and NaV1.8 in heart failure
Philipp Bengel, Nataliya Dybkova, Petros Tirilomis, Shakil Ahmad, Nico Hartmann, Belal A. Mohamed, Miriam Celine Krekeler, Wiebke Maurer, Steffen Pabel, Maximilian Trum, Julian Mustroph, Jan Gummert, Hendrik Milting, Stefan Wagner, Senka Ljubojevic-Holzer, Karl Toischer, Lars S. Maier, Gerd Hasenfuss, Katrin Streckfuss-Bömeke, Samuel Sossalla
Nat Commun. 2021; 12: 6586. Published online 2021 Nov 15. doi: 10.1038/s41467-021-26690-1
PMCID:
PMC8593192
AbstractArticlePDF–2.2M
10.
Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression
C. M. Cleary, S. James, B. J. Maher, D. K. Mulkey
Nat Commun. 2021; 12: 5962. Published online 2021 Oct 13. doi: 10.1038/s41467-021-26263-2
PMCID:
PMC8514575
AbstractArticlePDF–3.5M
11.
Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Anneline S. J. M. te Riele, Cynthia A. James, Brittney Murray, Crystal Tichnell, Nuria Amat-Alarcon, Kathleen Burks, Harikrishna Tandri, Hugh Calkins, Michael Polydefkis, Daniel P. Judge
J Cardiovasc Transl Res. Author manuscript; available in PMC 2020 Oct 7.
Published in final edited form as: J Cardiovasc Transl Res. 2016 Feb; 9(1): 87–89. Published online 2016 Jan 5. doi: 10.1007/s12265-015-9670-0
PMCID:
PMC7539289
AbstractArticlePDF–54K
12.
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration
Rinki Ratnapriya, İlhan E Acar, Maartje J Geerlings, Kari Branham, Alan Kwong, Nicole T M Saksens, Marc Pauper, Jordi Corominas, Madeline Kwicklis, David Zipprer, Margaret R Starostik, Mohammad Othman, Beverly Yashar, Goncalo R Abecasis, Emily Y Chew, Deborah A Ferrington, Carel B Hoyng, Anand Swaroop, Anneke I den Hollander
Hum Mol Genet. 2020 Jul 29; 29(12): 2022–2034. Published online 2020 Apr 3. doi: 10.1093/hmg/ddaa057
PMCID:
PMC7390936
AbstractArticlePDF–1.2M
13.
Absence of Functional Nav1.8 Channels in Non-diseased Atrial and Ventricular Cardiomyocytes
Simona Casini, Gerard A. Marchal, Makiri Kawasaki, Fransisca A. Nariswari, Vincent Portero, Nicoline W.E. van den Berg, Kaomei Guan, Antoine H.G. Driessen, Marieke W. Veldkamp, Isabella Mengarelli, Joris R. de Groot, Arie O. Verkerk, Carol Ann Remme
Cardiovasc Drugs Ther. 2019; 33(6): 649–660. Published online 2020 Jan 8. doi: 10.1007/s10557-019-06925-6
PMCID:
PMC6994555
AbstractArticlePDF–2.0M
14.
Impact of the NaV1.8 variant, A1073V, on post-sigmoidectomy pain and electrophysiological function in rat sympathetic neurons
Matthew D. Coates, Joyce S. Kim, Nurgul Carkaci-Salli, Kent E. Vrana, Walter A. Koltun, Henry L. Puhl, Sanjib D. Adhikary, Piotr K. Janicki, Victor Ruiz-Velasco
J Neurophysiol. 2019 Dec 1; 122(6): 2591–2600. Published online 2019 Oct 23. doi: 10.1152/jn.00542.2019
PMCID:
PMC6957366
AbstractArticle
15.
Small-Fiber Neuropathy Nav1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons
Jianying Huang, Yang Yang, Peng Zhao, Monique M. Gerrits, Janneke G.J . Hoeijmakers, Kim Bekelaar, Ingemar S.J. Merkies, Catharina G. Faber, Sulayman D. Dib-Hajj, Stephen G. Waxman
J Neurosci. 2013 Aug 28; 33(35): 14087–14097. doi: 10.1523/JNEUROSCI.2710-13.2013
PMCID:
PMC6618513
AbstractArticlePDF–2.0M
16.
LncRNAs-directed PTEN enzymatic switch governs epithelial–mesenchymal transition
Qingsong Hu, Chunlai Li, Shouyu Wang, Yajuan Li, Bo Wen, Yanyan Zhang, Ke Liang, Jun Yao, Youqiong Ye, Heidi Hsiao, Tina K. Nguyen, Peter K. Park, Sergey D. Egranov, David H. Hawke, Jeffrey R. Marks, Leng Han, Mien-Chie Hung, Bing Zhang, Chunru Lin, Liuqing Yang
Cell Res. 2019 Apr; 29(4): 286–304. Published online 2019 Jan 10. doi: 10.1038/s41422-018-0134-3
PMCID:
PMC6461864
AbstractArticlePDF–11M
17.
Increased Resurgent Sodium Currents in Nav1.8 Contribute to Nociceptive Sensory Neuron Hyperexcitability Associated with Peripheral Neuropathies
Yucheng Xiao, Cindy Barbosa, Zifan Pei, Wenrui Xie, Judith A. Strong, Jun-Ming Zhang, Theodore R. Cummins
J Neurosci. 2019 Feb 20; 39(8): 1539–1550. doi: 10.1523/JNEUROSCI.0468-18.2018
PMCID:
PMC6381260
AbstractArticlePDF–2.3M
18.
Common Coding Variants in SCN10A are associated with the Nav1.8 Late Current and Cardiac Conduction
Vincenzo Macri, Jennifer A. Brody, Dan E. Arking, William J. Hucker, Xiaoyan Yin, Honghuang Lin, Robert W. Mills, Moritz F. Sinner, Steven A. Lubitz, Ching-Ti Liu, Alanna C. Morrison, Alvaro Alonso, Ning Li, Vadim V. Fedorov, Paul M. Janssen, Joshua C. Bis, Susan R. Heckbert, Elena V. Dolmatova, Thomas Lumley, Colleen M. Sitlani, L. Adrienne Cupples, Sara L. Pulit, Christopher Newton-Cheh, John Barnard, Jonathan D. Smith, David R. Van Wagoner, Mina K. Chung, Gus J. Vlahakes, Christopher J. O’Donnell, Jerome I. Rotter, Kenneth B. Margulies, Michael P. Morley, Thomas P. Cappola, Emelia J. Benjamin, Donna M. Muzny, Richard A. Gibbs, Rebecca D. Jackson, Jared W. Magnani, Caroline N. Herndon, Stephen S. Rich, Bruce M. Psaty, David J. Milan, Eric Boerwinkle, Peter J. Mohler, Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Sequencing Project, NHLBI Exome Sequencing Project, Nona Sotoodehnia, Patrick T. Ellinor
Circ Genom Precis Med. Author manuscript; available in PMC 2019 Feb 15.
Published in final edited form as: Circ Genom Precis Med. 2018 May; 11(5): e001663. doi: 10.1161/CIRCGEN.116.001663
PMCID:
PMC6377236
AbstractArticlePDF–861K
19.
The functional consequences of sodium channel NaV1.8 in human left ventricular hypertrophy
Shakil Ahmad, Petros Tirilomis, Steffen Pabel, Nataliya Dybkova, Nico Hartmann, Cristina E. Molina, Theodoros Tirilomis, Ingo Kutschka, Norbert Frey, Lars S. Maier, Gerd Hasenfuss, Katrin Streckfuss‐Bömeke, Samuel Sossalla
ESC Heart Fail. 2019 Feb; 6(1): 154–163. Published online 2018 Oct 30. doi: 10.1002/ehf2.12378
PMCID:
PMC6352890
AbstractArticlePDF–507K
20.
Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease
Choochai Nettuwakul, Oranud Praditsap, Nunghathai Sawasdee, Nanyawan Rungroj, Katesirin Ruamyod, Wattana B. Watanapa, Mutita Junking, Sittideth Sangnual, Suchai Sritippayawan, Boonyarit Cheunsuchon, Duangporn Chuawattana, Santi Rojsatapong, Wipada Chaowagul, Sulayman D. Dib-Hajj, Stephen G. Waxman, Pa-thai Yenchitsomanus
Sci Rep. 2018; 8: 10453. Published online 2018 Jul 11. doi: 10.1038/s41598-018-28623-3
PMCID:
PMC6041274
AbstractArticlePDF–3.8M

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