Citations for
1FGF13, SCN9A
FGF13 Selectively Regulates Heat Nociception by Interacting with Nav1.7.
Yang L, Dong F, Yang Q, Yang PF, Wu R, Wu QF, Wu D, Li CL, Zhong YQ, Lu YJ, Cheng X, Xu FQ, Chen L, Bao L, Zhang X.
Neuron 93(4):806-821.e9. doi: 10.1016/j.neuron.2017.01.009. Epub 2017 Feb 2. 2017
2DPYSL2, SCN9A
Hierarchical CRMP2 posttranslational modifications control NaV1.7 function.
Dustrude ET, Moutal A, Yang X, Wang Y, Khanna M, Khanna R.
Proc Natl Acad Sci U S A 113(52):E8443-E8452. doi: 10.1073/pnas.1610531113. Epub 2016 Dec 8. 2016
3DPYSL2, SCN9A
CRMP2 protein SUMOylation modulates NaV1.7 channel trafficking.
Dustrude ET, Wilson SM, Ju W, Xiao Y, Khanna R.
J Biol Chem 288(34):24316-31. doi: 10.1074/jbc.M113.474924. Epub 2013 Jul 8. 2013
4CIEP, SCN9A
Neuroscience: Channelopathies have many faces.
Waxman SG.
Nature 472(7342):173-4. No abstract available. 2011
5SCN9A
Loss-of-function mutations in sodium channel Nav1.7 cause anosmia.
Weiss J, Pyrski M, Jacobi E, Bufe B, Willnecker V, Schick B, Zizzari P, Gossage SJ, Greer CA, Leinders-Zufall T, Woods CG, Wood JN, Zufall F.
Nature 472(7342):186-90. Epub 2011 Mar 23. 2011
6CIEP, ETHA, PEXPD, SCN9A
Pain perception is altered by a nucleotide polymorphism in SCN9A.
Reimann F, Cox JJ, Belfer I, Diatchenko L, Zaykin DV, McHale DP, Drenth JP, Dai F, Wheeler J, Sanders F, Wood L, Wu TX, Karppinen J, Nikolajsen L, Männikkö M, Max MB, Kiselycznyk C, Poddar M, Te Morsche RH, Smith S, Gibson D, Kelempisioti A, Maixner W, Gribble FM, Woods CG.
Proc Natl Acad Sci U S A 107(11):5148-53. Epub 2010 Mar 8. 2010
7CIEP, SCN9A
Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.
Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R.
Hum Mutat 31(9):E1670-86. 2010
8ETHA, SCN9A
Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.
Lampert A, Dib-Hajj SD, Eastman EM, Tyrrell L, Lin Z, Yang Y, Waxman SG.
Biochem Biophys Res Commun 390(2):319-24. Epub 2009 Oct 1.PMID: 19800314 2009
9ETHA, SCN9A
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.
Fischer TZ, Gilmore ES, Estacion M, Eastman E, Taylor S, Melanson M, Dib-Hajj SD, Waxman SG.
Ann Neurol 65(6):733-41.PMID: 1955786 2009
10SCN9A
Function and role of voltage-gated sodium channel NaV1.7 expressed in aortic smooth muscle cells.
Meguro K, Iida H, Takano H, Morita T, Sata M, Nagai R, Nakajima T.
Am J Physiol Heart Circ Physiol 296(1):H211-9. Epub 2008 Oct 31.PMID: 18978189 2009
11ETHA, GEFSP2, SCN9A
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF.
PLoS Genet 5(9):e1000649. Epub 2009 Sep 18.PMID: 19763161 2009
12SCN2A, SCN3A, SCN9A, TRPM5
Voltage-gated sodium channels in taste bud cells.
Gao N, Lu M, Echeverri F, Laita B, Kalabat D, Williams ME, Hevezi P, Zlotnik A, Moyer BD.
BMC Neurosci 10:20.PMID: 19284629 2009
13SCN9A
Biophysical properties of human Na v1.7 splice variants and their regulation by protein kinase A.
Chatelier A, Dahllund L, Eriksson A, Krupp J, Chahine M.
J Neurophysiol 99(5):2241-50. Epub 2008 Mar 12.PMID: 18337362 2008
14ETHA, SCN10A, SCN11A, SCN9A
Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.
Drenth JP, Te Morsche RH, Mansour S, Mortimer PS.
Arch Dermatol 144(3):320-4.PMID: 18347287 2008
15SCN9A
Identification and characterization of the promoter region of the Nav1.7 voltage-gated sodium channel gene (SCN9A).
Diss JK, Calissano M, Gascoyne D, Djamgoz MB, Latchman DS.
Mol Cell Neurosci 37(3):537-47. Epub 2007 Dec 15.PMID: 18249135 2008
16CIEP, SCN9A
Loss-of-function mutations in the Na(v)1.7 gene underlie congenital indifference to pain in multiple human populations.
Goldberg Y, Macfarlane J, Macdonald M, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband H, Green R, Duff A, Boltshauser E, Grinspan G, Dimon J, Sibley B, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone S, Samuels M, Sherrington R, Hayden M.
Clin Genet 71(4):311-9. 2007
17SCN9A, CIEP
A stop codon mutation in SCN9A causes lack of pain sensation.
Ahmad S, Dahllund L, Eriksson AB, Hellgren D, Karlsson U, Lund PE, Meijer IA, Meury L, Mills T, Moody A, Morinville A, Morten J, O'donnell D, Raynoschek C, Salter H, Rouleau GA, Krupp JJ.
Hum Mol Genet 16(17):2114-21. Epub 2007 Jun 27. 2007
18SCN9A, CIEP
An SCN9A channelopathy causes congenital inability to experience pain.
Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG.
Nature 444(7121):894-8. 2006
19ETHA, SCN9A
Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.
Harty TP, Dib-Hajj SD, Tyrrell L, Blackman R, Hisama FM, Rose JB, Waxman SG.
J Neurosci 26(48):12566-75. 2006
20PEXPD, SCN9A
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M.
Neuron 52(5):767-74. 2006
21CIEP, ETHA, SCN9A
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.
Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, Marshall L, Waxman SG.
Brain 128(Pt 8):1847-54. Epub 2005 Jun 15. 2005
22ETHA,SCN9A
Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.
Michiels JJ, te Morsche RH, Jansen JB, Drenth JP.
Arch Neurol 62(10):1587-90. 2005
23SCN9A, ETHA
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.
Yang Y, Wang Y, Li S, Xu Z, Li H, Ma L, Fan J, Bu D, Liu B, Fan Z, Wu G, Jin J, Ding B, Zhu X, Shen Y.
J Med Genet 41(3):171-4. 2004
24SCN9A
Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia.
Raymond CK, Castle J, Garrett-Engele P, Armour CD, Kan Z, Tsinoremas N, Johnson JM.
J Biol Chem 279(44):46234-41. Epub 2004 Aug 9. 2004
25SCN9A
Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells.
Klugbauer N, et al.
EMBO J 14(6):1084-90 1995