| 1 | CIEP, SCN9A
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| Neuroscience: Channelopathies have many faces.
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| Waxman SG.
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| Nature 472(7342):173-4. No abstract available.
2011
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| 2 | CIEP, ETHA, PEXPD, SCN9A
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| Pain perception is altered by a nucleotide polymorphism in SCN9A.
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| 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.
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| Proc Natl Acad Sci U S A 107(11):5148-53. Epub 2010 Mar 8. 2010
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| 3 | CIEP, SCN9A
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| Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.
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| Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R.
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| Hum Mutat 31(9):E1670-86.
2010
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| 4 | CIEP, SCN9A
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| Loss-of-function mutations in the Na(v)1.7 gene underlie congenital indifference to pain in multiple human populations.
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| 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.
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| Clin Genet 71(4):311-9. 2007
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| 5 | SCN9A, CIEP
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| A stop codon mutation in SCN9A causes lack of pain sensation.
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| 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.
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| Hum Mol Genet 16(17):2114-21. Epub 2007 Jun 27. 2007
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| 6 | SCN9A, CIEP
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| An SCN9A channelopathy causes congenital inability to experience pain.
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| 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.
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| Nature 444(7121):894-8. 2006
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| 7 | CIEP, ETHA, SCN9A
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| Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.
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| Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, Marshall L, Waxman SG.
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| Brain 128(Pt 8):1847-54. Epub 2005 Jun 15. 2005
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