1 | KCNH2
|
| Functional characterization of a novel hERG variant in a family with recurrent sudden infant death syndrome: Retracting a genetic diagnosis.
|
| Sergeev V, Perry F, Roston TM, Sanatani S, Tibbits GF, Claydon TW.
|
| Forensic Sci Int 284:39-45. doi: 10.1016/j.forsciint.2017.12.028. Epub 2017 Dec 20.
2018
|
2 | KCNH2
|
| Hypoxia reduces mature hERG channels through calpain up-regulation.
|
| Lamothe SM, Song W, Guo J, Li W, Yang T, Baranchuk A, Graham CH, Zhang S.
|
| FASEB J 31(11):5068-5077. doi: 10.1096/fj.201700255R. Epub 2017 Aug 7.
2017
|
3 | KCNH2, LQT2
|
| The S1 helix critically regulates the finely tuned gating of Kv11.1 channels.
|
| Phan K, Ng CA, David E, Shishmarev D, Kuchel PW, Vandenberg JI, Perry MD.
|
| J Biol Chem 292(18):7688-7705. doi: 10.1074/jbc.M117.779298. Epub 2017 Mar 9.
2017
|
4 | KCNH2, TBX20
|
| Tbx20 controls the expression of the KCNH2 gene and of hERG channels.
|
| Caballero R, Utrilla RG, Amorós I, Matamoros M, Pérez-Hernández M, Tinaquero D, Alfayate S, Nieto-Marín P, Guerrero-Serna G, Liu QH, Ramos-Mondragón R, Ponce-Balbuena D, Herron T, Campbell KF, Filgueiras-Rama D, Peinado R, López-Sendón JL, Jalife J, Delpón E, Tamargo J.
|
| Proc Natl Acad Sci U S A 114(3):E416-E425. doi: 10.1073/pnas.1612383114. Epub 2017 Jan 3.
2017
|
5 | KCNH2
|
| The Human Ether-a-go-go-related Gene (hERG) Potassium Channel Represents an Unusual Target for Protease-mediated Damage.
|
| Lamothe SM, Guo J, Li W, Yang T, Zhang S.
|
| J Biol Chem 291(39):20387-401. doi: 10.1074/jbc.M116.743138. Epub 2016 Aug 8.
2016
|
6 | KCNH2
|
| Increased expression of HERG K+ channels contributes to myelodysplastic syndrome progression and displays correlation with prognosis stratification.
|
| Lu L, Du W, Liu W, Guo D, He X, Li H.
|
| Hematology 21(10):583-592. Epub 2016 Mar 16.
2016
|
7 | KCNH2
|
| Structure of the Cyclic Nucleotide-Binding Homology Domain of the hERG Channel and Its Insight into Type 2 Long QT Syndrome.
|
| Li Y, Ng HQ, Li Q, Kang C.
|
| Sci Rep 6:23712. doi: 10.1038/srep23712.
2016
|
8 | KCNH2, NDFIP1, NEDD4L
|
| Regulation of the human ether-a-go-go-related gene (hERG) potassium channel by Nedd4 family interacting proteins (Ndfips).
|
| Kang Y, Guo J, Yang T, Li W, Zhang S.
|
| Biochem J 472(1):71-82. doi: 10.1042/BJ20141282. Epub 2015 Sep 11.
2015
|
9 | KCNH2, RAB11A
|
| Rab11-dependent Recycling of the Human Ether-a-go-go-related Gene (hERG) Channel.
|
| Chen J, Guo J, Yang T, Li W, Lamothe SM, Kang Y, Szendrey JA, Zhang S.
|
| J Biol Chem 290(34):21101-13. doi: 10.1074/jbc.M115.636324. Epub 2015 Jul 7.
2015
|
10 | KCNH2
|
| Role of mutation and pharmacologic block of human KCNH2 in vasculogenesis and fetal mortality: partial rescue by transforming growth factor-β.
|
| Teng G, Zhao X, Lees-Miller JP, Belke D, Shi C, Chen Y, O'Brien ER, Fedak PW, Bracey N, Cross JC, Duff HJ.
|
| Circ Arrhythm Electrophysiol 8(2):420-8. doi: 10.1161/CIRCEP.114.001837. Epub 2015 Feb 3.
2015
|
11 | KCNH2, RNF207
|
| RING finger protein RNF207, a novel regulator of cardiac excitation.
|
| Roder K, Werdich AA, Li W, Liu M, Kim TY, Organ-Darling LE, Moshal KS, Hwang JM, Lu Y, Choi BR, MacRae CA, Koren G.
|
| J Biol Chem 289(49):33730-40. doi: 10.1074/jbc.M114.592295. Epub 2014 Oct 3.
2014
|
12 | KCNH2
|
| Upregulation of functional Kv11.1 isoform expression by inhibition of intronic polyadenylation with antisense morpholino oligonucleotides.
|
| Gong Q, Stump MR, Zhou Z.
|
| J Mol Cell Cardiol 76:26-32. doi: 10.1016/j.yjmcc.2014.08.007. Epub 2014 Aug 14.
2014
|
13 | KCNH2, LQT2
|
| Identification of Kv11.1 isoform switch as a novel pathogenic mechanism of long-QT syndrome.
|
| Gong Q, Stump MR, Deng V, Zhang L, Zhou Z.
|
| Circ Cardiovasc Genet 7(4):482-90. doi: 10.1161/CIRCGENETICS.114.000586. Epub 2014 Jul 15.
2014
|
14 | KCNH2
|
| Role of the cytoplasmic N-terminal Cap and Per-Arnt-Sim (PAS) domain in trafficking and stabilization of Kv11.1 channels.
|
| Ke Y, Hunter MJ, Ng CA, Perry MD, Vandenberg JI.
|
| J Biol Chem 289(20):13782-91. doi: 10.1074/jbc.M113.531277. Epub 2014 Apr 2.
2014
|
15 | BRGS10, KCNH2
|
| Gain-of-function KCNH2 mutations in patients with Brugada syndrome.
|
| Wang QI, Ohno S, Ding WG, Fukuyama M, Miyamoto A, Itoh H, Makiyama T, Wu J, Bai J, Hasegawa K, Shinohara T, Takahashi N, Shimizu A, Matsuura H, Horie M.
|
| J Cardiovasc Electrophysiol 25(5):522-530. doi: 10.1111/jce.12361. Epub 2014 Jan 30.
2014
|
16 | KCNH2, LQT2
|
| Congenital long QT syndrome with compound mutations in the KCNH2 gene.
|
| Bando S, Soeki T, Matsuura T, Niki T, Ise T, Yamaguchi K, Taketani Y, Iwase T, Yamada H, Wakatsuki T, Akaike M, Aiba T, Shimizu W, Sata M.
|
| Heart Vessels eart Vessels. 2013 Sep 22. [Epub ahead of print]
2013
|
17 | KCNH2, SGK1
|
| The serum- and glucocorticoid-inducible kinases SGK1 and SGK3 regulate hERG channel expression via ubiquitin ligase Nedd4-2 and GTPase Rab11.
|
| Lamothe SM, Zhang S.
|
| J Biol Chem 288(21):15075-84. doi: 10.1074/jbc.M113.453670. Epub 2013 Apr 15.
2013
|
18 | KCNH2, KCNQ1
|
| Interactions between hERG and KCNQ1 α-subunits are mediated by their COOH termini and modulated by cAMP.
|
| Organ-Darling LE, Vernon AN, Giovanniello JR, Lu Y, Moshal K, Roder K, Li W, Koren G.
|
| Am J Physiol Heart Circ Physiol 304(4):H589-99. doi: 10.1152/ajpheart.00385.2012. Epub 2012 Dec 15.
2013
|
19 | KCNH1, 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
|
20 | KCNH2, NEDD4L, RAB4A
|
| Regulation of the human ether-a-go-go-related gene (hERG) channel by Rab4 protein through neural precursor cell-expressed developmentally down-regulated protein 4-2 (Nedd4-2).
|
| Cui Z, Zhang S.
|
| J Biol Chem 288(30):21876-86. doi: 10.1074/jbc.M113.461715.
2013
|
21 | KCNH2, LQT2
|
| Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.
|
| Aidery P, Kisselbach J, Gaspar H, Baldea I, Schweizer PA, Becker R, Katus HA, Thomas D.
|
| Biochem Biophys Res Commun 418(4):830-5. doi: 10.1016/j.bbrc.2012.01.118. Epub 2012 Jan 30.
2012
|
22 | KCNH2
|
| Ion conduction through the hERG potassium channel.
|
| Ceccarini L, Masetti M, Cavalli A, Recanatini M.
|
| PLoS One 7(11):e49017. doi: 10.1371/journal.pone.0049017. Epub 2012 Nov 2.
2012
|
23 | KCNH2
|
| Purification and structural characterization of the voltage-sensor domain of the hERG potassium channel.
|
| Ng HQ, Kim YM, Huang Q, Gayen S, Yildiz AA, Yoon HS, Sinner EK, Kang C.
|
| Protein Expr Purif 86(2):98-104. doi: 10.1016/j.pep.2012.09.003. Epub 2012 Oct 3.
2012
|
24 | KCNH2
|
| Identification and characterization of a compound that protects cardiac tissue from human Ether-à-go-go-related gene (hERG)-related drug-induced arrhythmias.
|
| Potet F, Lorinc AN, Chaigne S, Hopkins CR, Venkataraman R, Stepanovic SZ, Lewis LM, Days E, Sidorov VY, Engers DW, Zou B, Afshartous D, George AL Jr, Campbell CM, Balser JR, Li M, Baudenbacher FJ, Lindsley CW, Weaver CD, Kupershmidt S.
|
| J Biol Chem 287(47):39613-25. doi: 10.1074/jbc.M112.380162. Epub 2012 Oct 2.
2012
|
25 | KCNH2
|
| hERG K(+) channels: structure, function, and clinical significance.
|
| Vandenberg JI, Perry MD, Perrin MJ, Mann SA, Ke Y, Hill AP.
|
| Physiol Rev 92(3):1393-478. Review.
2012
|
26 | KCNH2
|
| Stimulation of HERG channel activity by β-catenin.
|
| Munoz C, Saxena A, Pakladok T, Bogatikov E, Wilmes J, Seebohm G, Föller M, Lang F.
|
| PLoS One 7(8):e43353. doi: 10.1371/journal.pone.0043353. Epub 2012 Aug 15.
2012
|
27 | BRGS10, KCNH2
|
| The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases.
|
| Winkel BG, Larsen MK, Berge KE, Leren TP, Nissen PH, Olesen MS, Hollegaard MV, Jespersen T, Yuan L, Nielsen N, Haunsø S, Svendsen JH, Wang Y, Kristensen IB, Jensen HK, Tfelt-Hansen J, Banner J.
|
| J Cardiovasc Electrophysiol 23(10):1092-8. doi: 10.1111/j.1540-8167.2012.02371.x. Epub 2012 Aug 6. 2012
|
28 | KCNH2
|
| Proton block of the pore underlies the inhibition of hERG cardiac K+ channels during acidosis.
|
| Van Slyke AC, Cheng YM, Mafi P, Allard CR, Hull CM, Shi YP, Claydon TW.
|
| Am J Physiol Cell Physiol 302(12):C1797-806. doi: 10.1152/ajpcell.00324.2011. Epub 2012 Apr 18.
2012
|
29 | KCNH1, 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
|
30 | CAV3, KCNH2, NEDD4L
|
| Cell surface expression of human ether-a-go-go-related gene (hERG) channels is regulated by caveolin-3 protein via the ubiquitin ligase Nedd4-2.
|
| Guo J, Wang T, Li X, Shallow H, Yang T, Li W, Xu J, Fridman MD, Yang X, Zhang S.
|
| J Biol Chem 287(40):33132-41.
2012
|
31 | KCNH2, LQT2
|
| Modelling the long QT syndrome with induced pluripotent stem cells.
|
| Itzhaki I, Maizels L, Huber I, Zwi-Dantsis L, Caspi O, Winterstern A, Feldman O, Gepstein A, Arbel G, Hammerman H, Boulos M, Gepstein L.
|
| Nature 471(7337):225-9. Epub 2011 Jan 16.
2011
|
32 | KCNH2, LQT2
|
| Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.
|
| Gianulis EC, Trudeau MC.
|
| J Biol Chem 286(25):22160-9. Epub 2011 May 2.
2011
|
33 | KCNH2
|
| Protein kinase A activity at the endoplasmic reticulum surface is responsible for augmentation of human ether-a-go-go-related gene product (HERG).
|
| Sroubek J, McDonald TV.
|
| J Biol Chem 286(24):21927-36. doi: 10.1074/jbc.M110.201699. Epub 2011 May 2.
2011
|
34 | KCNH2
|
| Alternative splicing and polyadenylation contribute to the generation of hERG1 C-terminal isoforms.
|
| Gong Q, Stump MR, Dunn AR, Deng V, Zhou Z.
|
| J Biol Chem 285(42):32233-41. Epub 2010 Aug 6.
2010
|
35 | KCNH2
|
| Identification and expression analysis of kcnh2 genes in the zebrafish.
|
| Leong IU, Skinner JR, Shelling AN, Love DR.
|
| Biochem Biophys Res Commun 396(4):817-24. doi: 10.1016/j.bbrc.2010.04.157. Epub 2010 May 11.
2010
|
36 | KCNH2
|
| Small GTPase determinants for the Golgi processing and plasmalemmal expression of human ether-a-go-go related (hERG) K+ channels.
|
| Delisle BP, Underkofler HA, Moungey BM, Slind JK, Kilby JA, Best JM, Foell JD, Balijepalli RC, Kamp TJ, January CT.
|
| J Biol Chem 284(5):2844-53. Epub 2008 Nov 24.
2009
|
37 | KCNH2
|
| A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia.
|
| Huffaker SJ, Chen J, Nicodemus KK, Sambataro F, Yang F, Mattay V, Lipska BK, Hyde TM, Song J, Rujescu D, Giegling I, Mayilyan K, Proust MJ, Soghoyan A, Caforio G, Callicott JH, Bertolino A, Meyer-Lindenberg A, Chang J, Ji Y, Egan MF, Goldberg TE, Kleinman JE, Lu B, Weinberger DR.
|
| Nat Med 15(5):509-18. Epub 2009 May 3.
2009
|
38 | KCNH2
|
| Ether-à-go-go-related gene K+ channels contribute to threshold excitability of mouse auditory brainstem neurons.
|
| Hardman RM, Forsythe ID.
|
| J Physiol 587(Pt 11):2487-97. Epub 2009 Apr 9.PMID: 19359372 2009
|
39 | DEL7Q36,KCNH2
|
| Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.
|
| Caselli R, Mencarelli MA, Papa FT, Ariani F, Longo I, Meloni I, Vonella G, Acampa M, Auteri A, Vicari S, Orsi A, Hayek G, Renieri A, Mari F.
|
| Am J Med Genet A 146(9):1195-9. 2008
|
40 | KCNH2, KCNH6, KCNH7
|
| ERG voltage-gated K+ channels regulate excitability and discharge dynamics of the medial vestibular nucleus neurones.
|
| Pessia M, Servettini I, Panichi R, Guasti L, Grassi S, Arcangeli A, Wanke E, Pettorossi VE.
|
| J Physiol 586(Pt 20):4877-90. Epub 2008 Aug 21.PMID: 18718985 2008
|
41 | KCNH2, KCNH6, KCNH7
|
| Modeling HERG and its interactions with drugs: recent advances in light of current potassium channel simulations.
|
| Recanatini M, Cavalli A, Masetti M.
|
| ChemMedChem 3(4):523-35. Review.PMID: 18224703 2008
|
42 | KCNH2, KCNQ1
|
| Cardiac potassium channel dysfunction in sudden infant death syndrome.
|
| Rhodes TE, Abraham RL, Welch RC, Vanoye CG, Crotti L, Arnestad M, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Rognum T, Roden DM, Schwartz PJ, George AL Jr.
|
| J Mol Cell Cardiol 44(3):571-81. Epub 2007 Dec 7.PMID: 18222468 2008
|
43 | FHL2, KCNH2
|
| The four and a half LIM domain protein 2 interacts with and regulates the HERG channel.
|
| Lin J, Lin S, Yu X, Choy PC, Shen X, Deng C, Kuang S, Wu J.
|
| FEBS J 275(18):4531-9. Epub 2008 Aug 1.
2008
|
44 | KCNH2, LQT2
|
| A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome.
|
| Pellegrino PL, Bafunno V, Ieva R, Brunetti ND, Mavilio G, Sessa F, Grimaldi M, Margaglione M, Di Biase M.
|
| Am J Cardiol 99(12):1737-40. Epub 2007 Apr 30.
2007
|
45 | KCNH2, LQT2
|
| A single hERG mutation underlying a spectrum of acquired and congenital long QT syndrome phenotypes.
|
| Saenen JB, Paulussen AD, Jongbloed RJ, Marcelis CL, Gilissen RA, Aerssens J, Snyders DJ, Raes AL.
|
| J Mol Cell Cardiol 43(1):63-72. Epub 2007 May 4.
2007
|
46 | KCNH2, KCNH6, KCNH7
|
| Transcription factor ERG and joint and articular cartilage formation during mouse limb and spine skeletogenesis.
|
| Iwamoto M, Tamamura Y, Koyama E, Komori T, Takeshita N, Williams JA, Nakamura T, Enomoto-Iwamoto M, Pacifici M.
|
| Dev Biol 305(1):40-51. Epub 2007 Feb 7.PMID: 17336282 2007
|
47 | KCNE1, KCNE2, KCNH2
|
| Differential association between HERG and KCNE1 or KCNE2.
|
| Um SY, McDonald TV.
|
| PLoS One 2(9):e933.PMID: 17895974 2007
|
48 | KCNQ1, LQT1, KCNE1, KCNE2, LQT5, LQT6, SCN5A, LQT3, KCNH2, LQT2
|
| Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
| Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzalez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.
|
| Clin Genet 70(3):214-27. 2006
|
49 | KCNH2, LQT2
|
| C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.
|
| Choe CU, Schulze-Bahr E, Neu A, Xu J, Zhu ZI, Sauter K, BŠhring R, Priori S, Guicheney P, Mšnnig G, Neapolitano C, Heidemann J, Clancy CE, Pongs O, Isbrandt D.
|
| Hum Mol Genet 15(19):2888-902. Epub 2006 Aug 21. 2006
|
50 | KCNH2
|
| hERG1 channels in human esophagus: evidence for their aberrant expression in the malignant progression of Barrett's esophagus.
|
| Lastraioli E, Taddei A, Messerini L, Comin CE, Festini M, Giannelli M, Tomezzoli A, Paglierani M, Mugnai G, De Manzoni G, Bechi P, Arcangeli A.
|
| J Cell Physiol 209(2):398-404. 2006
|
51 | KCNH2, KCNH6, KCNH7
|
| Quantitative structure-activity relationship studies on inhibition of HERG potassium channels.
|
| Yoshida K, Niwa T.
|
| J Chem Inf Model 46(3):1371-8.PMID: 16711756 2006
|
52 | KCNH2, KCNH6, KCNH7
|
| The cardiac hERG/IKr potassium channel as pharmacological target: structure, function, regulation, and clinical applications.
|
| Thomas D, Karle CA, Kiehn J.
|
| Curr Pharm Des 12(18):2271-83. Review.PMID: 16787254 2006
|
53 | KCNQ1, KCNE1, KCNH2, SCN5A
|
| Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.
|
| Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, Guicheney P; D.
|
| Eur J Hum Genet 13(11):1213-22. 2005
|
54 | LQT2, KCNH2
|
| Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome.
|
| Christiansen M, Tonder N, Larsen LA, Andersen PS, Simonsen H, Oyen N, Kanters JK, Jacobsen JR, Fosdal I, Wettrell G, Kjeldsen K.
|
| Am J Cardiol 95(3):433-4. 2005
|
55 | KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2
|
| Single nucleotide polymorphism map of five long-QT genes.
|
| Aydin A, Bahring S, Dahm S, Guenther UP, Uhlmann R, Busjahn A, Luft FC.
|
| J Mol Med 83(2):159-65. Epub 2004 Dec 15. 2005
|
56 | SQT1, KCNH2
|
| Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.
|
| Hong K, Bjerregaard P, Gussak I, Brugada R.
|
| J Cardiovasc Electrophysiol 16(4):394-6. 2005
|
57 | LQT2, KCNH2
|
| Degradation of trafficking-defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway.
|
| Gong Q, Keeney DR, Molinari M, Zhou Z.
|
| J Biol Chem 280(19):19419-25. Epub 2005 Mar 10. 2005
|
58 | KCNH2
|
| Cloning and functional characterization of the smooth muscle ether-a-go-go-related gene K+ channel. Potential role of a conserved amino acid substitution in the S4 region.
|
| Shoeb F, Malykhina AP, Akbarali HI.
|
| J Biol Chem 278(4):2503-14. Epub 2002 Nov 09. 2003
|
59 | KCNH2, LQT2
|
| Identification of a COOH-terminal segment involved in maturation and stability of human ether-a-go-go-related gene potassium channels.
|
| Akhavan A, Atanasiu R, Shrier A.
|
| J Biol Chem 278(41):40105-12. Epub 2003 Jul 28. 2003
|
60 | KCNH2, LQT2
|
| Functional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH2 (HERG).
|
| Paavonen KJ, Chapman H, Laitinen PJ, Fodstad H, Piippo K, Swan H, Toivonen L, Viitasalo M, Kontula K, Pasternack M.
|
| Cardiovasc Res 59(3):603-11. 2003
|
61 | KCNH2, YWHAE
|
| 14-3-3 amplifies and prolongs adrenergic stimulation of HERG K+ channel activity.
|
| Kagan A, Melman YF, Krumerman A, McDonald TV.
|
| EMBO J 21(8):1889-98. 2002
|
62 | KCNH2, LQT2
|
| Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.
|
| Yoshida H, Horie M, Otani H, Kawashima T, Onishi Y, Sasayama S.
|
| Am J Med Genet 98(4):348-52. 2001
|
63 | KCNH2, LQT2
|
| Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
|
| Larsen LA, Svendsen IH, Jensen AM, Kanters JK, Andersen PS, Moller M, Sorensen SA, Sandoe E, Jacobsen JR, Vuust J, Christiansen M.
|
| Clin Genet 57(2):125-30. 2000
|
64 | KCNE1, KCNH2, KCNQ1, SCN5A
|
| Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.
|
| Iwasa H, Itoh T, Nagai R, Nakamura Y, Tanaka T.
|
| J Hum Genet 45(3):182-3. 2000
|
65 | KCNH2, LQT2
|
| Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns.
|
| Piippo K, Laitinen P, Swan H, Toivonen L, Viitasalo M, Pasternack M, Paavonen K, Chapman H, Wann KT, Hirvela E, Sajantila A, Kontula K.
|
| J Am Coll Cardiol 35(7):1919-25. 2000
|
66 | KCNH2
|
| HERG potassium channels are more frequently expressed in human endometrial cancer as compared to non-cancerous endometrium.
|
| Cherubini A, Taddei GL, Crociani O, Paglierani M, Buccoliero AM, Fontana L, Noci I, Borri P, Borrani E, Giachi M, Becchetti A, Rosati B, Wanke E, Olivotto M, Arcangeli A.
|
| Br J Cancer 83(12):1722-9. 2000
|
67 | KCNQ1, KCNH2
|
| C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
|
| Berthet M, et al.
|
| Circulation 99(11):1464-70. 1999
|
68 | KCNH2, LQT2
|
| Homozygous premature truncation of the HERG protein : the human HERG knockout.
|
| Hoorntje T, Alders M, van Tintelen P, van der Lip K, Sreeram N, van der Wal A, Mannens M, Wilde A.
|
| Circulation 100(12):1264-7 1999
|
69 | KCNH2, LQT2
|
| Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
|
| Satler CA, et al.
|
| Hum Genet 102 : 265-272. 1998
|
70 | KCNH2, LQT2
|
| Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.
|
| Itoh T, et al.
|
| Hum Genet 102 : 435-439. 1998
|
71 | KCNH2
|
| Alteration of HERG current profile during the cardiac ventricular action potential, following a pore mutation.
|
| Hancox JC, et al.
|
| Biochem Biophys Res Commun 253(3):719-24. 1998
|
72 | KCNH2, LQT2
|
| The human delta1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression.
|
| Li X, et al.
|
| J Biol Chem 272 : 705-708. 1997
|
73 | KCNQ1, KCNH2, LQT1, LQT2
|
| Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
|
| Tanaka T, et al.
|
| Circulation 95 : 565-567. 1997
|
74 | LQT2, KCNH2
|
| Missense mutation in the pore region of HERG causes familial long QT syndrome.
|
| Benson DW, et al.
|
| Circulation 93 : 1791-1795. 1996
|
75 | KCNH2, LQT2
|
| Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.
|
| Satler CA, et al.
|
| Am J Med Genet 65 : 27-35. 1996
|
76 | KCNH2, LQT2
|
| A mutation in HERG associated with notched T waves in long QT syndorme.
|
| Dausse E, et al.
|
| J Mol Cell Cardiol 28 : 1609-1615. 1996
|
77 | KCNH2, LQT2, LQT3, SCN5A
|
| Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy.
|
| Schwartz PJ, et al.
|
| Circulation 92 : 3381-3386. 1995
|
78 | KCNH2, LQT2
|
| A molecular basis for cardiac arrhythmia : HERG mutations cause long QT syndrome.
|
| Curran ME, et al.
|
| Cell 80 : 795-803. 1995
|
79 | LQT2, KCNH2
|
| A mechanistic link between an inherited and an acquired cardiac arrhythmia : HERG encodes the Ikr potassium channel.
|
| Sanguinetti MC, et al.
|
| Cell 81 : 299-307. 1995
|