| 1 | KCNE3, KCNQ1
|
| KCNE3 acts by promoting voltage sensor activation in KCNQ1.
|
| Barro-Soria R, Perez ME, Larsson HP.
|
| Proc Natl Acad Sci U S A 112(52):E7286-92. doi: 10.1073/pnas.1516238112. Epub 2015 Dec 14.
2015
|
| 2 | KCNE3, LQT10, NCIE1, TGM1
|
| Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
|
| Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR.
|
| Hum Mutat 30(4):537-47. Review. 2009
|
| 3 | KCNE3, LQT10
|
| Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.
|
| Ohno S, Toyoda F, Zankov DP, Yoshida H, Makiyama T, Tsuji K, Honda T, Obayashi K, Ueyama H, Shimizu W, Miyamoto Y, Kamakura S, Matsuura H, Kita T, Horie M.
|
| Hum Mutat 30(4):557-63.
2009
|
| 4 | BRGS1, BRGS10, BRGS2, BRGS3, BRGS4, BRGS5, BRGS6, BRGS7, BRGS9, CACN2B, CACNA1C, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A
|
| The genetic basis of Brugada syndrome: a mutation update.
|
| Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M.
|
| Hum Mutat 30(9):1256-66. Review.PMID: 19606473 2009
|
| 5 | KCNE1, KCNE1L, KCNE2, KCNE3, KCNE4
|
| Expression and transcriptional control of human KCNE genes.
|
| Lundquist AL, Turner CL, Ballester LY, George AL Jr.
|
| Genomics 87(1):119-28. Epub 2005 Nov 21. 2006
|
| 6 | KCNE3, KCND3
|
| KCNE3 is an inhibitory subunit of the Kv4.3 potassium channel.
|
| Lundby A, Olesen SP.
|
| Biochem Biophys Res Commun 346(3):958-67. Epub 2006 Jun 9. 2006
|
| 7 | KCNE3
|
| Ectopic expression of KCNE3 accelerates cardiac repolarization and abbreviates the QT interval.
|
| Mazhari R, Nuss HB, Armoundas AA, Winslow RL, Marban E.
|
| J Clin Invest 109(8):1083-90. 2002
|
| 8 | KCNE3, THYPOKPP
|
| A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.
|
| Dias Da Silva MR, Cerutti JM, Arnaldi LA, Maciel RM.
|
| J Clin Endocrinol Metab 87(11):4881-4. 2002
|
| 9 | HOKPP3, KCNE3, KCNE4
|
| MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.
|
| Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptacek LJ, Goldstein SA.
|
| Cell 104(2):217-31. 2001
|
| 10 | KCNE1, KCNE3, KCNK1
|
| A constitutively open potassium channel formed by KCNQ1 and KCNE3.
|
| Schroeder BC, Waldegger S, Fehr S, Bleich M, Warth R, Greger R, Jentsch TJ.
|
| Nature 403(6766):196-9. 2000
|