Citations for
1KCNH1, TMBTS, ZLS1
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L.
BMC Med Genet 17(1):42. doi: 10.1186/s12881-016-0304-4. 2016
2KCNH1, TMBTS
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ.
Nat Genet 47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24. Erratum in: Nat Genet. 2015 Mar;47(3):304. 2015
3ATP6V1B2, KCNH1, ZLS1, ZLS2
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K.
Nat Genet 47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27. 2015
4KCNH1, KCNH2, KCNH3, KCNH4, KCNH5, KCNH6, KCNH7, KCNH8
The structural mechanism of KCNH-channel regulation by the eag domain.
Haitin Y, Carlson AE, Zagotta WN.
Nature 501(7467):444-8. doi: 10.1038/nature12487. Epub 2013 Aug 25. 2013
5KCNH1
Flavonoid regulation of EAG1 channels.
Carlson AE, Brelidze TI, Zagotta WN.
J Gen Physiol 141(3):347-58. doi: 10.1085/jgp.201210900. 2013
6KCNH1
Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.
Ufartes R, Schneider T, Mortensen LS, de Juan Romero C, Hentrich K, Knoetgen H, Beilinson V, Moebius W, Tarabykin V, Alves F, Pardo LA, Rawlins JN, Stuehmer W.
Hum Mol Genet 22(11):2247-62. doi: 10.1093/hmg/ddt076. Epub 2013 Feb 18. 2013
7KCNH1, KCNH2, KCNH3, KCNH4, KCNH5, KCNH6, KCNH7, KCNH8
Structure of the carboxy-terminal region of a KCNH channel.
Brelidze TI, Carlson AE, Sankaran B, Zagotta WN.
Nature 481(7382):530-3. doi: 10.1038/nature10735. 2012
8CTTN, KCNH1
Cortactin controls surface expression of the voltage-gated potassium channel K(V)10.1.
Herrmann S, Ninkovic M, Kohl T, Lörinczi É, Pardo LA.
J Biol Chem 287(53):44151-63. doi: 10.1074/jbc.M112.372540. Epub 2012 Nov 9. 2012
9CTTN, KCNH1
Cortactin controls surface expression of the voltage-gated potassium channel K(V)10.1.
Herrmann S, Ninkovic M, Kohl T, Lörinczi É, Pardo LA.
J Biol Chem 287(53):44151-63. doi: 10.1074/jbc.M112.372540. Epub 2012 Nov 9. 2012
10KCNH1, RABEP1
Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking.
Ninkovic M, Mitkovski M, Kohl T, Stühmer W, Pardo LA.
FEBS Lett 586(19):3077-84. doi: 10.1016/j.febslet.2012.07.055. Epub 2012 Jul 25. 2012
11KCNH1
Frequent aberrant expression of the human ether ŕ go-go (hEAG1) potassium channel in head and neck cancer: pathobiological mechanisms and clinical implications.
Menéndez ST, Villaronga MA, Rodrigo JP, Alvarez-Teijeiro S, García-Carracedo D, Urdinguio RG, Fraga MF, Pardo LA, Viloria CG, Suárez C, García-Pedrero JM.
J Mol Med (Berl) 90(10):1173-84. doi: 10.1007/s00109-012-0893-0. Epub 2012 Mar 31. 2012
12KCNH1
Human ether-ŕ-go-go gene potassium channels are regulated by EGFR tyrosine kinase.
Wu W, Dong MQ, Wu XG, Sun HY, Tse HF, Lau CP, Li GR.
Biochim Biophys Acta 1823(2):282-9. doi: 10.1016/j.bbamcr.2011.10.010. Epub 2011 Oct 28. 2012
13KCNH1
Functional K(v)10.1 channels localize to the inner nuclear membrane.
Chen Y, Sánchez A, Rubio ME, Kohl T, Pardo LA, Stühmer W.
PLoS One 6(5):e19257. doi: 10.1371/journal.pone.0019257. 2011
14KCNH1, S100B
Current inhibition of human EAG1 potassium channels by the Ca2+ binding protein S100B.
Sahoo N, Tröger J, Heinemann SH, Schönherr R.
FEBS Lett 584(18):3896-900. Epub 2010 Aug 12. 2010
15KCNH1, KCNH5
Eag 1, Eag 2 and Kcnn3 gene brain expression of isolated reared rats.
Martin S, Lino-de-Oliveira C, Joca SR, Weffort de Oliveira R, Echeverry MB, Da Silva CA, Pardo L, Stühmer W, Bel ED.
Genes Brain Behav 9(8):918-24. doi: 10.1111/j.1601-183X.2010.00632.x. 2010
16KCNH1, KCNH5
Roles of surface residues of intracellular domains of heag potassium channels.
Stevens L, Ju M, Wray D.
Eur Biophys J 38(4):523-32. doi: 10.1007/s00249-009-0402-8. Epub 2009 Jan 27. 2009
17KCNH1, BEST1
Eag1 and Bestrophin 1 are up-regulated in fast-growing colonic cancer cells.
Spitzner M, Martins JR, Soria RB, Ousingsawat J, Scheidt K, Schreiber R, Kunzelmann K.
J Biol Chem 283(12):7421-8. Epub 2008 Jan 25. 2008
18KCNH1, KCNH5
Tubulin as a binding partner of the heag2 voltage-gated potassium channel.
Bracey K, Ju M, Tian C, Stevens L, Wray D.
J Membr Biol 222(3):115-25. doi: 10.1007/s00232-008-9104-x. Epub 2008 May 6. 2008
19KCNH1, KCNH5
Differential localization of rat Eag1 and Eag2 K+ channels in hippocampal neurons.
Jeng CJ, Chang CC, Tang CY.
Neuroreport 16(3):229-33. 2005
20KCNH1, KCNH5
Functional distinction of human EAG1 and EAG2 potassium channels.
Schonherr R, Gessner G, Lober K, Heinemann SH.
FEBS Lett 514(2-3):204-8. 2002
21KCNH1, KCNH5
Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion.
Occhiodoro T, Bernheim L, Liu JH, Bijlenga P, Sinnreich M, Bader CR, Fischer-Lougheed J.
FEBS Lett 434(1-2):177-82. 1998