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Select item 112415651.

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

Abstract Article PDF–1.7M

Select item 108898732.

Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene

Sana Waheed, Kainat Ramzan, Sibtain Ahmad, Muhammad Saleem Khan, Muhammad Wajid, Hayat Ullah, Ali Umar, Rashid Iqbal, Riaz Ullah, Ahmed Bari

PLoS One. 2024; 19(2): e0297367. Published online 2024 Feb 23. doi: 10.1371/journal.pone.0297367

Correction in:: PLoS One. 2024; 19(3): e0301489.

PMCID:: PMC10889873

Abstract Article PDF–2.4M

Select item 106165073.

Structural basis for severe pain caused by mutations in the voltage sensors of sodium channel Na_V1.7

Goragot Wisedchaisri, Tamer M. Gamal El-Din, Natasha M. Powell, Ning Zheng, William A. Catterall

J Gen Physiol. 2023 Dec 4; 155(12): e202313450. Published online 2023 Oct 30. doi: 10.1085/jgp.202313450

PMCID:: PMC10616507

Abstract Article PDF–3.4M

Select item 104998214.

Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets

Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson

Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8

PMCID:: PMC10499821

Abstract Article PDF–2.6M

Select item 103167705.

Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy

Mirna Andelic, Erika Salvi, Stefania Marcuzzo, Margherita Marchi, Raffaella Lombardi, Daniele Cartelli, Daniele Cazzato, Elkadia Mehmeti, Andrea Gelemanovic, Matilde Paolini, Carlotta Pardo, Ilaria D’Amato, Janneke G J Hoeijmakers, Sulayman Dib-Hajj, Stephen G Waxman, Catharina G Faber, Giuseppe Lauria

Brain. 2023 Jul; 146(7): 3049–3062. Published online 2023 Feb 2. doi: 10.1093/brain/awad025

PMCID:: PMC10316770

Abstract Article PDF–777K

Select item 101479236.

Pain-causing stinging nettle toxins target TMEM233 to modulate Na_V1.7 function

Sina Jami, Jennifer R. Deuis, Tabea Klasfauseweh, Xiaoyang Cheng, Sergey Kurdyukov, Felicity Chung, Andrei L. Okorokov, Shengnan Li, Jiangtao Zhang, Ben Cristofori-Armstrong, Mathilde R. Israel, Robert J. Ju, Samuel D. Robinson, Peng Zhao, Lotten Ragnarsson, Åsa Andersson, Poanna Tran, Vanessa Schendel, Kirsten L. McMahon, Hue N. T. Tran, Yanni K.-Y. Chin, Yifei Zhu, Junyu Liu, Theo Crawford, Saipriyaa Purushothamvasan, Abdella M. Habib, David A. Andersson, Lachlan D. Rash, John N. Wood, Jing Zhao, Samantha J. Stehbens, Mehdi Mobli, Andreas Leffler, Daohua Jiang, James J. Cox, Stephen G. Waxman, Sulayman D. Dib-Hajj, G. Gregory Neely, Thomas Durek, Irina Vetter

Nat Commun. 2023; 14: 2442. Published online 2023 Apr 28. doi: 10.1038/s41467-023-37963-2

PMCID:: PMC10147923

Abstract Article PDF–3.8M

Select item 100487037.

SCN9A rs6746030 Polymorphism and Pain Perception in Combat Athletes and Non-Athletes

Katarzyna Leźnicka, Maciej Pawlak, Marek Sawczuk, Agata Gasiorowska, Agata Leońska-Duniec

Genes (Basel) 2023 Mar; 14(3): 733. Published online 2023 Mar 16. doi: 10.3390/genes14030733

PMCID:: PMC10048703

Abstract Article PDF–640K

Select item 99885308.

Nav1.7 P610T mutation in two siblings with persistent ocular pain after corneal axon transection: impaired slow inactivation and hyperexcitable trigeminal neurons

Mohammad-Reza Ghovanloo, Philip R. Effraim, Jun-Hui Yuan, Betsy R. Schulman, Deborah S. Jacobs, Sulayman D. Dib-Hajj, Stephen G. Waxman

J Neurophysiol. 2023 Mar 1; 129(3): 609–618. Published online 2023 Feb 1. doi: 10.1152/jn.00457.2022

PMCID:: PMC9988530

Abstract Article

Select item 99224689.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia

Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen

J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0

PMCID:: PMC9922468

Abstract Article PDF–4.9M

Select item 984344910.

The fates of internalized Na_V1.7 channels in sensory neurons: Retrograde cotransport with other ion channels, axon-specific recycling, and degradation

Grant P. Higerd-Rusli, Sidharth Tyagi, Shujun Liu, Fadia B. Dib-Hajj, Stephen G. Waxman, Sulayman D. Dib-Hajj

J Biol Chem. 2023 Jan; 299(1): 102816. Published online 2022 Dec 17. doi: 10.1016/j.jbc.2022.102816

PMCID:: PMC9843449

Abstract Article PDF–5.0M

Select item 982595411.

Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes

Baker Elsana, Ahed Imtirat, Ronit Yagev, Libe Gradstein, Pierre Majdalani, Oren Iny, Ruti Parvari, Erez Tsumi

Am J Med Genet A. 2022 Dec; 188(12): 3463–3468. Published online 2022 Sep 16. doi: 10.1002/ajmg.a.62968

PMCID:: PMC9825954

Abstract Article PDF–1.2M

Select item 958654712.

Na_v1.7 is required for normal C-low threshold mechanoreceptor function in humans and mice

Steven J Middleton, Irene Perini, Andreas C Themistocleous, Greg A Weir, Kirsty McCann, Allison M Barry, Andrew Marshall, Michael Lee, Leah M Mayo, Manon Bohic, Georgios Baskozos, India Morrison, Line S Löken, Sarah McIntyre, Saad S Nagi, Roland Staud, Isac Sehlstedt, Richard D Johnson, Johan Wessberg, John N Wood, Christopher G Woods, Aziz Moqrich, Håkan Olausson, David L Bennett

Brain. 2022 Oct; 145(10): 3637–3653. Published online 2021 Dec 27. doi: 10.1093/brain/awab482

PMCID:: PMC9586547

Abstract Article PDF–1.9M

Select item 938813313.

Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Na_v1.7

Gaoxingyu Huang, Qiurong Wu, Zhangqiang Li, Xueqin Jin, Xiaoshuang Huang, Tong Wu, Xiaojing Pan, Nieng Yan

Proc Natl Acad Sci U S A. 2022 Aug 16; 119(33): e2209164119. Published online 2022 Jul 25. doi: 10.1073/pnas.2209164119

PMCID:: PMC9388133

Abstract Article PDF–2.5M

Select item 932552314.

Non‐canonical endogenous expression of voltage‐gated sodium channel Na_V1.7 subtype by the TE671 rhabdomyosarcoma cell line

Neville M. Ngum, Muhammad Y. A. Aziz, Liaque Mohammed Latif, Richard J. Wall, Ian R. Duce, Ian R. Mellor

J Physiol. 2022 May 15; 600(10): 2499–2513. Published online 2022 Apr 27. doi: 10.1113/JP283055

PMCID:: PMC9325523

Abstract Article PDF–1.6M

Select item 919910815.

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A

Margherita Marchi, Ilaria D'Amato, Mirna Andelic, Daniele Cartelli, Erika Salvi, Raffaella Lombardi, Evren Gumus, Giuseppe Lauria

Pain. 2022 Jul; 163(7): e882–e887. Published online 2021 Nov 15. doi: 10.1097/j.pain.0000000000002535

PMCID:: PMC9199108

Abstract Article PDF–419K

Select item 832564116.

RARE MUTATIONS IN ATL3, SPTLC2 AND SCN9A EXPLAINING HEREDITARY SENSORY NEUROPATHY AND CONGENITAL INSENSITIVITY TO PAIN IN A BRAZILIAN COHORT

Vivian Pedigone Cintra, Maike F. Dohrn, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Teixeira Camargos, Luiz Sergio Mageste Barbosa, Adriana Rebelo, Lisa Abreu, Matt Danzi, Wilson Marques, Jr, Stephan Züchner

J Neurol Sci. Author manuscript; available in PMC 2022 Aug 15.

Published in final edited form as: J Neurol Sci. 2021 Aug 15; 427: 117498. Published online 2021 May 18. doi: 10.1016/j.jns.2021.117498

PMCID:: PMC8325641

Abstract Article PDF–791K

Select item 816503017.

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 804372018.

Structural Basis for High-Affinity Trapping of the Na_V1.7 Channel in its Resting State by Tarantula Toxin

Goragot Wisedchaisri, Lige Tonggu, Tamer M. Gamal El-Din, Eedann McCord, Ning Zheng, William A. Catterall

Mol Cell. Author manuscript; available in PMC 2022 Jan 7.

Published in final edited form as: Mol Cell. 2021 Jan 7; 81(1): 38–48.e4. Published online 2020 Nov 23. doi: 10.1016/j.molcel.2020.10.039

PMCID:: PMC8043720

Abstract Article PDF–2.1M

Select item 798848819.

Engineering of highly potent and selective HNTX-III mutant against hNa_v1.7 sodium channel for treatment of pain

Yunxiao Zhang, Li Wang, Dezheng Peng, Qingfeng Zhang, Qiuchu Yang, Jiayan Li, Dan Li, Dongfang Tang, Minzhi Chen, Songping Liang, Yu Liu, Sheng Wang, Zhonghua Liu

J Biol Chem. 2021 Jan-Jun; 296: 100326. Published online 2021 Jan 23. doi: 10.1016/j.jbc.2021.100326

PMCID:: PMC7988488

Abstract Article PDF–2.9M

Select item 794845720.

Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity

Clara M. Kerth, Petra Hautvast, Jannis Körner, Angelika Lampert, Jannis E. Meents

J Biol Chem. 2021 Jan-Jun; 296: 100227. Published online 2020 Dec 29. doi: 10.1074/jbc.RA120.014288

Correction in:: J Biol Chem. 2021 Sep; 297(3): 101122.

PMCID:: PMC7948457

Abstract Article PDF–3.0M

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