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Select item 108898731.

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 106165072.

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 103167703.

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 100487034.

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 99885305.

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 98434496.

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 93881337.

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 93255238.

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 91991089.

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 804372010.

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 798848811.

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 794845712.

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

Select item 771753413.

No association between SCN9A and monogenic human epilepsy disorders

James Fasham, Joseph S. Leslie, Jamie W. Harrison, James Deline, Katie B. Williams, Ashley Kuhl, Jessica Scott Schwoerer, Harold E. Cross, Andrew H. Crosby, Emma L. Baple

PLoS Genet. 2020 Nov; 16(11): e1009161. Published online 2020 Nov 20. doi: 10.1371/journal.pgen.1009161

PMCID:: PMC7717534

Abstract Article PDF–667K

Select item 748450514.

Uncoupling sodium channel dimers restores the phenotype of a pain‐linked Na_v1.7 channel mutation

Annika H. Rühlmann, Jannis Körner, Ralf Hausmann, Nikolay Bebrivenski, Christian Neuhof, Silvia Detro‐Dassen, Petra Hautvast, Carène A. Benasolo, Jannis Meents, Jan‐Philipp Machtens, Günther Schmalzing, Angelika Lampert

Br J Pharmacol. 2020 Oct; 177(19): 4481–4496. Published online 2020 Aug 24. doi: 10.1111/bph.15196

PMCID:: PMC7484505

Abstract Article PDF–19M

Select item 735913915.

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family

Tian Zhang, Mingwu Chen, Angang Zhu, Xiaoguang Zhang, Tao Fang

Neurol Sci. 2020; 41(7): 1913–1917. Published online 2020 Feb 15. doi: 10.1007/s10072-020-04284-x

PMCID:: PMC7359139

Abstract Article PDF–656K

Select item 723565916.

Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype

Jiaoli Sun, Lulu Li, Luyao Yang, Guangyou Duan, Tingbin Ma, Ningbo Li, Yi Liu, Jing Yao, Jing Yu Liu, Xianwei Zhang

Mol Pain. 2020; 16: 1744806920923881. Published online 2020 May 18. doi: 10.1177/1744806920923881

PMCID:: PMC7235659

Abstract Article PDF–905K

Select item 721861317.

Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation – case report

Adam Stępień, Daria Sałacińska, Jacek Staszewski, Marta Durka-Kęsy, Jan Dobrogowski

BMC Neurol. 2020; 20: 182. Published online 2020 May 13. doi: 10.1186/s12883-020-01770-9

PMCID:: PMC7218613

Abstract Article PDF–4.8M

Select item 721208218.

An SCN9A channelopathy causes congenital inability to experience pain

James J. Cox, Frank Reimann, Adeline K. Nicholas, Gemma Thornton, Emma Roberts, Kelly Springell, Gulshan Karbani, Hussain Jafri, Jovaria Mannan, Yasmin Raashid, Lihadh Al-Gazali, Henan Hamamy, Enza Maria Valente, Shaun Gorman, Richard Williams, Duncan P. McHale, John N. Wood, Fiona M. Gribble, C. Geoffrey Woods

Nature. Author manuscript; available in PMC 2020 May 11.

Published in final edited form as: Nature. 2006 Dec 14; 444(7121): 894–898. doi: 10.1038/nature05413

PMCID:: PMC7212082

Abstract Article PDF–1.3M

Select item 716126619.

Taxane-induced sensory peripheral neuropathy is associated with an SCN9A single nucleotide polymorphism in Japanese patients

Yuko Tanabe, Seiji Shiraishi, Kenji Hashimoto, Kazutaka Ikeda, Daisuke Nishizawa, Junko Hasegawa, Akihiko Shimomura, Yukinori Ozaki, Nobuko Tamura, Mayu Yunokawa, Kan Yonemori, Toshimi Takano, Hidetaka Kawabata, Kenji Tamura, Yasuhiro Fujiwara, Chikako Shimizu

BMC Cancer. 2020; 20: 325. Published online 2020 Apr 16. doi: 10.1186/s12885-020-06834-0