"Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias."
Chouabe C. , Neyroud N. , Guicheney P. , Lazdunski M. , Romey G. , Barhanin J.
EMBO J.16:5472-5479(1997) [PubMed] [Europe PMC] [Abstract]

"Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome."
Itoh T. , Tanaka T. , Nagai R. , Kikuchi K. , Ogawa S. , Okada S. , Yamagata S. , Yano K. , Yazaki Y. , Nakamura Y.
Hum. Genet.103:290-294(1998) [PubMed] [Europe PMC] [Abstract]

"Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome."
Neyroud N. , Richard P. , Vignier N. , Donger C. , Denjoy I. , Demay L. , Shkolnikova M. , Pesce R. , Chevalier P. , Hainque B. , Coumel P. , Schwartz K. , Guicheney P.
Circ. Res.84:290-297(1999) [PubMed] [Europe PMC] [Abstract]

Seebohm G.
Submitted (2002-05) to the EMBL/GenBank/DDBJ databases

"KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias."
Yang W.-P. , Levesque P.C. , Little W.A. , Conder M.L. , Shalaby F.Y. , Blanar M.A.
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"Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel."
Sanguinetti M.C. , Curran M.E. , Zou A. , Shen J. , Spector P.S. , Atkinson D.L. , Keating M.T.
Nature384:80-83(1996) [PubMed] [Europe PMC] [Abstract]

"Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias."
Wang Q. , Curran M.E. , Splawski I. , Burn T.C. , Millholland J.M. , Vanraay T.J. , Shen J. , Timothy K.W. , Vincent G.M. , de Jager T. , Schwartz P.J. , Towbin J.A. , Moss A.J. , Atkinson D.L. , Landes G.M. , Connors T.D. , Keating M.T.
Nat. Genet.12:17-23(1996) [PubMed] [Europe PMC] [Abstract]

"Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart."
Jiang M. , Tseng-Crank J. , Tseng G.-N.
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"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of a trimeric form of the K(V)7.1 (KCNQ1) A-domain tail coiled-coil reveals structural plasticity and context dependent changes in a putative coiled-coil trimerization motif."
Xu Q. , Minor D.L. Jr.
Protein Sci.18:2100-2114(2009) [PubMed] [Europe PMC] [Abstract]

"Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome."
Shalaby F.Y. , Levesque P.C. , Yang W.-P. , Little W.A. , Conder M.L. , Jenkins-West T. , Blanar M.A.
Circulation96:1733-1736(1997) [PubMed] [Europe PMC] [Abstract]

"Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors."
Selyanko A.A. , Hadley J.K. , Wood I.C. , Abogadie F.C. , Jentsch T.J. , Brown D.A.
J. Physiol. (Lond.)522:349-355(2000) [PubMed] [Europe PMC] [Abstract]

"A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly."
Schmitt N. , Schwarz M. , Peretz A. , Abitbol I. , Attali B. , Pongs O.
EMBO J.19:332-340(2000) [PubMed] [Europe PMC] [Abstract]

"A constitutively open potassium channel formed by KCNQ1 and KCNE3."
Schroeder B.C. , Waldegger S. , Fehr S. , Bleich M. , Warth R. , Greger R. , Jentsch T.J.
Nature403:196-199(2000) [PubMed] [Europe PMC] [Abstract]

"The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction."
Wiener R. , Haitin Y. , Shamgar L. , Fernandez-Alonso M.C. , Martos A. , Chomsky-Hecht O. , Rivas G. , Attali B. , Hirsch J.A.
J. Biol. Chem.283:5815-5830(2008) [PubMed] [Europe PMC] [Abstract]

"Jervell and Lange-Nielsen syndrome: a Norwegian perspective."
Tranebjaerg L. , Bathen J. , Tyson J. , Bitner-Glindzicz M.
Am. J. Med. Genet.89:137-146(1999) [PubMed] [Europe PMC] [Abstract]

"KVLQT1 mutations in three families with familial or sporadic long QT syndrome."
Russell M.W. , Dick M. II , Collins F.S. , Brody L.C.
Hum. Mol. Genet.5:1319-1324(1996) [PubMed] [Europe PMC] [Abstract]

"Evidence of a long QT founder gene with varying phenotypic expression in South African families."
de Jager T. , Corbett C.H. , Badenhorst J.C. , Brink P.A. , Corfield V.A.
J. Med. Genet.33:567-573(1996) [PubMed] [Europe PMC] [Abstract]

"A severe form of long-QT syndrome caused by KVLQT1 mutations located in cis (Abstract #2051)."
Wedekind H. , Schulze-Bahr E. , Lange S. , Rubie C. , Haverkamp W. , Hoerdt M. , Borggrefe M. , Assmann G. , Breithardt G. , Funke H.
Am. J. Hum. Genet. Suppl.61:A350-A350(1997)

"Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome."
Tanaka T. , Nagai R. , Tomoike H. , Takata S. , Yano K. , Yabuta K. , Haneda N. , Nakano O. , Shibata A. , Sawayama T. , Kasai H. , Yazaki Y. , Nakamura Y.
Circulation95:565-567(1997) [PubMed] [Europe PMC] [Abstract]

"KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome."
Donger C. , Denjoy I. , Berthet M. , Neyroud N. , Cruaud C. , Bennaceur M. , Chivoret G. , Schwartz K. , Coumel P. , Guicheney P.
Circulation96:2778-2781(1997) [PubMed] [Europe PMC] [Abstract]

"The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene."
van den Berg M.H. , Wilde A.A.M. , Robles de Medina E.O. , Meyer H. , Geelen J.L.M.C. , Jongbloed R.J.E. , Wellens H.J. , Geraedts J.P.M.
Hum. Genet.100:356-361(1997) [PubMed] [Europe PMC] [Abstract]

"Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias."
Wollnik B. , Schroeder B.C. , Kubisch C. , Esperer H.D. , Wieacker P. , Jentsch T.J.
Hum. Mol. Genet.6:1943-1949(1997) [PubMed] [Europe PMC] [Abstract]

"New mutations in the KVLQT1 potassium channel that cause long-QT syndrome."
Li H. , Chen Q. , Moss A.J. , Robinson J.L. , Goytia V. , Perry J.C. , Vincent G.M. , Priori S.G. , Lehmann M.H. , Denfield S.W. , Duff D. , Kaine S. , Shimizu W. , Schwartz P.J. , Wang Q. , Towbin J.A.
Circulation97:1264-1269(1998) [PubMed] [Europe PMC] [Abstract]

"A recessive variant of the Romano-Ward Long-QT syndrome?"
Priori S.G. , Schwartz P.J. , Napolitano C. , Bianchi L. , Dennis A.T. , de Fusco M. , Brown A.M. , Casari G.
Circulation97:2420-2425(1998) [PubMed] [Europe PMC] [Abstract]

"Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome."
Neyroud N. , Denjoy I. , Donger C. , Gary F. , Villain E. , Leenhardt A. , Benali K. , Schwartz K. , Coumel P. , Guicheney P.
Eur. J. Hum. Genet.6:129-133(1998) [PubMed] [Europe PMC] [Abstract]

"Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1."
Splawski I. , Shen J. , Timothy K.W. , Vincent G.M. , Lehmann M.H. , Keating M.T.
Genomics51:86-97(1998) [PubMed] [Europe PMC] [Abstract]

"Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred."
Saarinen K. , Swan H. , Kainulainen K. , Toivonen L. , Viitasalo M. , Kontula K.
Hum. Mutat.11:158-165(1998) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family."
Ackerman M.J. , Schroeder J.J. , Berry R. , Schaid D.J. , Porter C.-B.J. , Michels V.V. , Thibodeau S.N.
Pediatr. Res.44:148-153(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias."
Mohammad-Panah R. , Demolombe S. , Neyroud N. , Guicheney P. , Kyndt F. , van den Hoff M. , Baro I. , Escande D.
Am. J. Hum. Genet.64:1015-1023(1999) [PubMed] [Europe PMC] [Abstract]

"Congenital long QT syndrome. The value of genetics in prognostic evaluation."
Denjoy I. , Lupoglazoff J.M. , Donger C. , Berthet M. , Richard P. , Neyroud N. , Villain E. , Lucet V. , Coumel P. , Guicheney P.
Arch. Mal. Coeur Vaiss.92:557-563(1999) [PubMed] [Europe PMC] [Abstract]

"Low penetrance in the long-QT syndrome: clinical impact."
Priori S.G. , Napolitano C. , Schwartz P.J.
Circulation99:529-533(1999) [PubMed] [Europe PMC] [Abstract]

"Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene."
Larsen L.A. , Fosdal I. , Andersen P.S. , Kanters J.K. , Vuust J. , Wettrell G. , Christiansen M.
Eur. J. Hum. Genet.7:724-728(1999) [PubMed] [Europe PMC] [Abstract]

"Novel KCNQ1 and HERG missense mutations in Dutch long-QT families."
Jongbloed R.J.E. , Wilde A.A.M. , Geelen J.L.M.C. , Doevendans P. , Schaap C. , van Langen I. , van Tintelen J.P. , Cobben J.M. , Beaufort-Krol G.C.M. , Geraedts J.P.M. , Smeets H.J.M.
Hum. Mutat.13:301-310(1999) [PubMed] [Europe PMC] [Abstract]

"High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants."
Larsen L.A. , Christiansen M. , Vuust J. , Andersen P.S.
Hum. Mutat.13:318-327(1999) [PubMed] [Europe PMC] [Abstract]

"Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits."
Franqueza L. , Lin M. , Shen J. , Keating M.T. , Sanguinetti M.C.
J. Biol. Chem.274:21063-21070(1999) [PubMed] [Europe PMC] [Abstract]

Franqueza L. , Lin M. , Shen J. , Keating M.T. , Sanguinetti M.C.
J. Biol. Chem.274:25188-25188(1999)

"Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk."
Chouabe C. , Neyroud N. , Richard P. , Denjoy I. , Hainque B. , Romey G. , Drici M.-D. , Guicheney P. , Barhanin J.
Cardiovasc. Res.45:971-980(2000) [PubMed] [Europe PMC] [Abstract]

"Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2."
Splawski I. , Shen J. , Timothy K.W. , Lehmann M.H. , Priori S.G. , Robinson J.L. , Moss A.J. , Schwartz P.J. , Towbin J.A. , Vincent G.M. , Keating M.T.
Circulation102:1178-1185(2000) [PubMed] [Europe PMC] [Abstract]

"KCNQ1 gain-of-function mutation in familial atrial fibrillation."
Chen Y.-H. , Xu S.-J. , Bendahhou S. , Wang X.-L. , Wang Y. , Xu W.-Y. , Jin H.-W. , Sun H. , Su X.-Y. , Zhuang Q.-N. , Yang Y.-Q. , Li Y.-B. , Liu Y. , Xu H.-J. , Li X.-F. , Ma N. , Mou C.-P. , Chen Z. , Barhanin J. , Huang W. more...
Science299:251-254(2003) [PubMed] [Europe PMC] [Abstract]

"Mutation in the KCNQ1 gene leading to the short QT-interval syndrome."
Bellocq C. , van Ginneken A.C.G. , Bezzina C.R. , Alders M. , Escande D. , Mannens M.M.A.M. , Baro I. , Wilde A.A.M.
Circulation109:2394-2397(2004) [PubMed] [Europe PMC] [Abstract]

"Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing."
Tester D.J. , Will M.L. , Haglund C.M. , Ackerman M.J.
Heart Rhythm2:507-517(2005) [PubMed] [Europe PMC] [Abstract]

"Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus."
Yasuda K. , Miyake K. , Horikawa Y. , Hara K. , Osawa H. , Furuta H. , Hirota Y. , Mori H. , Jonsson A. , Sato Y. , Yamagata K. , Hinokio Y. , Wang H.Y. , Tanahashi T. , Nakamura N. , Oka Y. , Iwasaki N. , Iwamoto Y. , Yamada Y. , Seino Y. , Maegawa H. , Kashiwagi A. , Takeda J. , Maeda E. , Shin H.D. , Cho Y.M. , Park K.S. , Lee H.K. , Ng M.C. , Ma R.C. , So W.Y. , Chan J.C. , Lyssenko V. , Tuomi T. , Nilsson P. , Groop L. , Kamatani N. , Sekine A. , Nakamura Y. , Yamamoto K. , Yoshida T. , Tokunaga K. , Itakura M. , Makino H. , Nanjo K. , Kadowaki T. , Kasuga M. more...
Nat. Genet.40:1092-1097(2008) [PubMed] [Europe PMC] [Abstract]

"SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations."
Unoki H. , Takahashi A. , Kawaguchi T. , Hara K. , Horikoshi M. , Andersen G. , Ng D.P. , Holmkvist J. , Borch-Johnsen K. , Jorgensen T. , Sandbaek A. , Lauritzen T. , Hansen T. , Nurbaya S. , Tsunoda T. , Kubo M. , Babazono T. , Hirose H. , Hayashi M. , Iwamoto Y. , Kashiwagi A. , Kaku K. , Kawamori R. , Tai E.S. , Pedersen O. , Kamatani N. , Kadowaki T. , Kikkawa R. , Nakamura Y. , Maeda S. more...
Nat. Genet.40:1098-1102(2008) [PubMed] [Europe PMC] [Abstract]

"Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico."
The SIGMA Type 2 Diabetes Consortium
Nature506:97-101(2014) [PubMed] [Europe PMC] [Abstract]

"Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1."
Thomas D. , Khalil M. , Alter M. , Schweizer P.A. , Karle C.A. , Wimmer A.B. , Licka M. , Katus H.A. , Koenen M. , Ulmer H.E. , Zehelein J.
J. Mol. Cell. Cardiol.48:230-237(2010) [PubMed] [Europe PMC] [Abstract]

"Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability."
Aidery P. , Kisselbach J. , Schweizer P.A. , Becker R. , Katus H.A. , Thomas D.
Biochim. Biophys. Acta1812:488-494(2011) [PubMed] [Europe PMC] [Abstract]