[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION IN VOLTAGE-EVOKED DEPOLARIZATION, AND TISSUE SPECIFICITY.
TISSUE=Thyroid;
PubMed=7720699 [NCBI, ExPASy, EBI, Israel, Japan]
Klugbauer N.,
Lacinova L.,
Flockerzi V.,
Hofmann F.;
"Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells.";
EMBO J. 14:1084-1090(1995).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] OF 136-674 (ISOFORMS 1; 2 AND 3), AND TISSUE SPECIFICITY.
TISSUE=Spinal ganglion;
DOI=10.1074/jbc.M406387200; PubMed=15302875 [NCBI, ExPASy, EBI, Israel, Japan]
Raymond C.K.,
Castle J.C.,
Garrett-Engele P.W.,
Armour C.D.,
Kan Z.G.,
Tsinoremas N.T.,
Johnson J.M.;
"Expression of alternatively spliced sodium channel alpha-subunit genes: unique splicing patterns are observed in dorsal root ganglia.";
J. Biol. Chem. 279:46234-46241(2004).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] OF 150-264 AND 1340-1400.
Diss J.K.J.,
Fraser S.P.,
Coombes R.C.,
Djamgoz M.B.A.;
"Upregulation of voltage-gated Na+ channel expression and metastatic potential in human breast cancer: correlative studies on cell lines and biopsy tissues.";
Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 840-958, AND VARIANTS PRIMARY ERYTHERMALGIA THR-859 AND HIS-869.
DOI=10.1136/jmg.2003.012153; PubMed=14985375 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.";
J. Med. Genet. 41:171-174(2004).
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[5]
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TISSUE SPECIFICITY.
DOI=10.1074/jbc.272.23.14805; PubMed=9169448 [NCBI, ExPASy, EBI, Israel, Japan]
Sangameswaran L.,
Fish L.M.,
Koch B.D.,
Rabert D.K.,
Delgado S.G.,
Ilnicka M.,
Jakeman L.B.,
Novakovic S.,
Wong K.,
Sze P.,
Tzoumaka E.,
Stewart G.R.,
Herman R.C.,
Chan H.,
Eglen R.M.,
Hunter J.C.;
"A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia.";
J. Biol. Chem. 272:14805-14809(1997).
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[6]
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FUNCTION IN VOLTAGE-EVOKED DEPOLARIZATION, AND TISSUE SPECIFICITY.
DOI=10.1016/j.febslet.2004.04.092; PubMed=15178348 [NCBI, ExPASy, EBI, Israel, Japan]
Jo T.,
Nagata T.,
Iida H.,
Imuta H.,
Iwasawa K.,
Ma J.,
Hara K.,
Omata M.,
Nagai R.,
Takizawa H.,
Nagase T.,
Nakajima T.;
"Voltage-gated sodium channel expressed in cultured human smooth muscle cells: involvement of SCN9A.";
FEBS Lett. 567:339-343(2004).
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[7]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-1413 AND SER-1418, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1021/pr070152u; PubMed=17924679 [NCBI, ExPASy, EBI, Israel, Japan]
Yu L.-R.,
Zhu Z.,
Chan K.C.,
Issaq H.J.,
Dimitrov D.S.,
Veenstra T.D.;
"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.";
J. Proteome Res. 6:4150-4162(2007).
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[8]
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CHARACTERIZATION OF VARIANTS PRIMARY ERYTHERMALGIA THR-859 AND HIS-869.
DOI=10.1523/JNEUROSCI.2695-04.2004; PubMed=15385606 [NCBI, ExPASy, EBI, Israel, Japan]
Cummins T.R.,
Dib-Hajj S.D.,
Waxman S.G.;
"Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.";
J. Neurosci. 24:8232-8236(2004).
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[9]
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VARIANT PRIMARY ERYTHERMALGIA THR-241.
DOI=10.1001/archneur.62.10.1587; PubMed=16216943 [NCBI, ExPASy, EBI, Israel, Japan]
Michiels J.J.,
te Morsche R.H.M.,
Jansen J.B.M.J.,
Drenth J.P.H.;
"Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.";
Arch. Neurol. 62:1587-1590(2005).
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[10]
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VARIANT PRIMARY ERYTHERMALGIA VAL-1460, AND CHARACTERIZATION OF VARIANT PRIMARY ERYTHERMALGIA VAL-1460.
DOI=10.1093/brain/awh514; PubMed=15958509 [NCBI, ExPASy, EBI, Israel, Japan]
Dib-Hajj S.D.,
Rush A.M.,
Cummins T.R.,
Hisama F.M.,
Novella S.,
Tyrrell L.,
Marshall L.,
Waxman S.G.;
"Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.";
Brain 128:1847-1854(2005).
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[11]
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INVOLVEMENT IN CONGENITAL INSENSITIVITY TO PAIN, AND CHARACTERIZATION.
DOI=10.1038/nature05413; PubMed=17167479 [NCBI, ExPASy, EBI, Israel, Japan]
Cox J.J.,
Reimann F.,
Nicholas A.K.,
Thornton G.,
Roberts E.,
Springell K.,
Karbani G.,
Jafri H.,
Mannan J.,
Raashid Y.,
Al-Gazali L.,
Hamamy H.,
Valente E.M.,
Gorman S.,
Williams R.,
McHale D.P.,
Wood J.N.,
Gribble F.M.,
Woods C.G.;
"An SCN9A channelopathy causes congenital inability to experience pain.";
Nature 444:894-898(2006).
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[12]
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VARIANTS PEPD CYS-1007; PHE-1309; ASP-1309; PHE-1310; THR-1472; VAL-1473; ILE-1475 AND LYS-1638, AND CHARACTERIZATION OF VARIANTS PEPD THR-1472; ILE-1475 AND LYS-1638.
DOI=10.1016/j.neuron.2006.10.006; PubMed=17145499 [NCBI, ExPASy, EBI, Israel, Japan]
Fertleman C.R.,
Baker M.D.,
Parker K.A.,
Moffatt S.,
Elmslie F.V.,
Abrahamsen B.,
Ostman J.,
Klugbauer N.,
Wood J.N.,
Gardiner R.M.,
Rees M.;
"SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.";
Neuron 52:767-774(2006).
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[13]
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CHARACTERIZATION OF VARIANT PRIMARY ERYTHERMALGIA HIS-869.
DOI=10.1073/pnas.0602813103; PubMed=16702558 [NCBI, ExPASy, EBI, Israel, Japan]
Rush A.M.,
Dib-Hajj S.D.,
Liu S.,
Cummins T.R.,
Black J.A.,
Waxman S.G.;
"A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.";
Proc. Natl. Acad. Sci. U.S.A. 103:8245-8250(2006).
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