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A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
Habib AM, Matsuyama A, Okorokov AL, Santana-Varela S, Bras JT, Aloisi AM, Emery EC, Bogdanov YD, Follenfant M, Gossage SJ, Gras M, Humphrey J, Kolesnikov A, Le Cann K, Li S, Minett MS, Pereira V, Ponsolles C, Sikandar S, Torres JM, Yamaoka K, Zhao J, Komine Y, Yamamori T, Maniatis N, Panov KI, Houlden H, Ramirez JD, Bennett DLH, Marsili L, Bachiocco V, Wood JN, Cox JJ. Habib AM, et al. Among authors: cox jj. Brain. 2018 Feb 1;141(2):365-376. doi: 10.1093/brain/awx326. Brain. 2018. PMID: 29253101 Free PMC article.
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.
Kremeyer B, Lopera F, Cox JJ, Momin A, Rugiero F, Marsh S, Woods CG, Jones NG, Paterson KJ, Fricker FR, Villegas A, Acosta N, Pineda-Trujillo NG, Ramírez JD, Zea J, Burley MW, Bedoya G, Bennett DL, Wood JN, Ruiz-Linares A. Kremeyer B, et al. Among authors: cox jj. Neuron. 2010 Jun 10;66(5):671-80. doi: 10.1016/j.neuron.2010.04.030. Neuron. 2010. PMID: 20547126 Free PMC article.
TRPC3 and TRPC6 are essential for normal mechanotransduction in subsets of sensory neurons and cochlear hair cells.
Quick K, Zhao J, Eijkelkamp N, Linley JE, Rugiero F, Cox JJ, Raouf R, Gringhuis M, Sexton JE, Abramowitz J, Taylor R, Forge A, Ashmore J, Kirkwood N, Kros CJ, Richardson GP, Freichel M, Flockerzi V, Birnbaumer L, Wood JN. Quick K, et al. Among authors: cox jj. Open Biol. 2012 May;2(5):120068. doi: 10.1098/rsob.120068. Open Biol. 2012. PMID: 22724068 Free PMC article.
Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.
Cregg R, Laguda B, Werdehausen R, Cox JJ, Linley JE, Ramirez JD, Bodi I, Markiewicz M, Howell KJ, Chen YC, Agnew K, Houlden H, Lunn MP, Bennett DL, Wood JN, Kinali M. Cregg R, et al. Among authors: cox jj. Neuromolecular Med. 2013 Jun;15(2):265-78. doi: 10.1007/s12017-012-8216-8. Epub 2013 Jan 6. Neuromolecular Med. 2013. PMID: 23292638 Free PMC article.
A role for Piezo2 in EPAC1-dependent mechanical allodynia.
Eijkelkamp N, Linley JE, Torres JM, Bee L, Dickenson AH, Gringhuis M, Minett MS, Hong GS, Lee E, Oh U, Ishikawa Y, Zwartkuis FJ, Cox JJ, Wood JN. Eijkelkamp N, et al. Among authors: cox jj. Nat Commun. 2013;4:1682. doi: 10.1038/ncomms2673. Nat Commun. 2013. PMID: 23575686 Free PMC article.
No pain, more gain.
Cox JJ, Wood JN. Cox JJ, et al. Nat Genet. 2013 Nov;45(11):1271-2. doi: 10.1038/ng.2810. Nat Genet. 2013. PMID: 24165728
78 results