KCNQ1 c.1051_1052delinsGC ;(p.F351A)

Variant ID: 11-2606460-TT-GC

NM_000218.2(KCNQ1):c.1051_1052delinsGC;(p.F351A)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels.

Elife
Edmond, Michaela A MA; Hinojo-Perez, Andy A; Wu, Xiaoan X; Perez Rodriguez, Marta E ME; Barro-Soria, Rene R
Publication Date: 2022-06-01

Variant appearance in text: KCNQ1: F351A
PubMed Link: 35642783
Variant Present in the following documents:
  • Main text
  • elife-77030.pdf
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Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.

Frontiers In Physiology
Wang, Yundi Y; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2020

Variant appearance in text: KCNQ1: F351A
PubMed Link: 32581825
Variant Present in the following documents:
  • Main text
  • fphys-11-00504.pdf
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Structure and physiological function of the human KCNQ1 channel voltage sensor intermediate state.

Elife
Taylor, Keenan C KC; Kang, Po Wei PW; Hou, Panpan P; Yang, Nien-Du ND; Kuenze, Georg G; Smith, Jarrod A JA; Shi, Jingyi J; Huang, Hui H; White, Kelli McFarland KM; Peng, Dungeng D; George, Alfred L AL; Meiler, Jens J; McFeeters, Robert L RL; Cui, Jianmin J; Sanders, Charles R CR
Publication Date: 2020-02-25

Variant appearance in text: KCNQ1: F351A
PubMed Link: 32096762
Variant Present in the following documents:
  • Main text
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Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.

Nature Communications
Hou, Panpan P; Kang, Po Wei PW; Kongmeneck, Audrey Deyawe AD; Yang, Nien-Du ND; Liu, Yongfeng Y; Shi, Jingyi J; Xu, Xianjin X; White, Kelli McFarland KM; Zaydman, Mark A MA; Kasimova, Marina A MA; Seebohm, Guiscard G; Zhong, Ling L; Zou, Xiaoqin X; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2020-02-03

Variant appearance in text: KCNQ1: F351A
PubMed Link: 32015334
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14406.pdf
  • 41467_2020_14406_MOESM2_ESM.pdf
  • 41467_2020_14406_MOESM1_ESM.pdf
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Upgraded molecular models of the human KCNQ1 potassium channel.

Plos One
Kuenze, Georg G; Duran, Amanda M AM; Woods, Hope H; Brewer, Kathryn R KR; McDonald, Eli Fritz EF; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J
Publication Date: 2019

Variant appearance in text: KCNQ1: F351A
PubMed Link: 31518351
Variant Present in the following documents:
  • Main text
  • pone.0220415.pdf
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ML277 specifically enhances the fully activated open state of KCNQ1 by modulating VSD-pore coupling.

Elife
Hou, Panpan P; Shi, Jingyi J; White, Kelli McFarland KM; Gao, Yuan Y; Cui, Jianmin J
Publication Date: 2019-07-22

Variant appearance in text: KCNQ1: F351A
PubMed Link: 31329101
Variant Present in the following documents:
  • Main text
  • elife-48576.pdf
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Phosphatidylinositol 4,5-bisphosphate (PIP2) regulates KCNQ3 K+ channels by interacting with four cytoplasmic channel domains.

The Journal Of Biological Chemistry
Choveau, Frank S FS; De la Rosa, Victor V; Bierbower, Sonya M SM; Hernandez, Ciria C CC; Shapiro, Mark S MS
Publication Date: 2018-12-14

Variant appearance in text: KCNQ1: F351A
PubMed Link: 30348901
Variant Present in the following documents:
  • Main text
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Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening.

Nature Communications
Hou, Panpan P; Eldstrom, Jodene J; Shi, Jingyi J; Zhong, Ling L; McFarland, Kelli K; Gao, Yuan Y; Fedida, David D; Cui, Jianmin J
Publication Date: 2017-11-23

Variant appearance in text: KCNQ1: F351A
PubMed Link: 29167462
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_1911.pdf
  • 41467_2017_1911_MOESM2_ESM.pdf
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KCNE1 and KCNE3 modulate KCNQ1 channels by affecting different gating transitions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Barro-Soria, Rene R; Ramentol, Rosamary R; Liin, Sara I SI; Perez, Marta E ME; Kass, Robert S RS; Larsson, H Peter HP
Publication Date: 2017-08-29

Variant appearance in text: KCNQ1: F351A
PubMed Link: 28808020
Variant Present in the following documents:
  • Main text
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Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews
Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS
Publication Date: 2017-01

Variant appearance in text: KCNQ1: F351A
PubMed Link: 27807201
Variant Present in the following documents:
  • Main text
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KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting.

Nature Communications
Wrobel, Eva E; Rothenberg, Ina I; Krisp, Christoph C; Hundt, Franziska F; Fraenzel, Benjamin B; Eckey, Karina K; Linders, Joannes T M JT; Gallacher, David J DJ; Towart, Rob R; Pott, Lutz L; Pusch, Michael M; Yang, Tao T; Roden, Dan M DM; Kurata, Harley T HT; Schulze-Bahr, Eric E; Strutz-Seebohm, Nathalie N; Wolters, Dirk D; Seebohm, Guiscard G
Publication Date: 2016-10-12

Variant appearance in text: Kv7.1: F351A
PubMed Link: 27731317
Variant Present in the following documents:
  • ncomms12795.pdf
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Fatty acid analogue N-arachidonoyl taurine restores function of IKs channels with diverse long QT mutations.

Elife
Liin, Sara I SI; Larsson, Johan E JE; Barro-Soria, Rene R; Bentzen, Bo Hjorth BH; Larsson, H Peter HP
Publication Date: 2016-09-30

Variant appearance in text: KCNQ1: F351A
PubMed Link: 27690226
Variant Present in the following documents:
  • Main text
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Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Biophysical Journal
Cui, Jianmin J
Publication Date: 2016-01-05

Variant appearance in text: KCNQ1: F351A
PubMed Link: 26745405
Variant Present in the following documents:
  • Main text
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KCNE3 acts by promoting voltage sensor activation in KCNQ1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Barro-Soria, Rene R; Perez, Marta E ME; Larsson, H Peter HP
Publication Date: 2015-12-29

Variant appearance in text: KCNQ1: F351A
PubMed Link: 26668384
Variant Present in the following documents:
  • Main text
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Domain-domain interactions determine the gating, permeation, pharmacology, and subunit modulation of the IKs ion channel.

Elife
Zaydman, Mark A MA; Kasimova, Marina A MA; McFarland, Kelli K; Beller, Zachary Z; Hou, Panpan P; Kinser, Holly E HE; Liang, Hongwu H; Zhang, Guohui G; Shi, Jingyi J; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2014-12-23

Variant appearance in text: KCNQ1: F351A
PubMed Link: 25535795
Variant Present in the following documents:
  • Main text
  • elife03606.pdf
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An allosteric mechanism for drug block of the human cardiac potassium channel KCNQ1.

Molecular Pharmacology
Yang, Tao T; Smith, Jarrod A JA; Leake, Brenda F BF; Sanders, Charles R CR; Meiler, Jens J; Roden, Dan M DM
Publication Date: 2013-02

Variant appearance in text: KCNQ1: F351A
PubMed Link: 23193163
Variant Present in the following documents:
  • Main text
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Regulation of Voltage-Activated K(+) Channel Gating by Transmembrane β Subunits.

Frontiers In Pharmacology
Sun, Xiaohui X; Zaydman, Mark A MA; Cui, Jianmin J
Publication Date: 2012

Variant appearance in text: KCNQ1: F351A
PubMed Link: 22529812
Variant Present in the following documents:
  • Main text
  • fphar-03-00063.pdf
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Allosteric gating mechanism underlies the flexible gating of KCNQ1 potassium channels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Osteen, Jeremiah D JD; Barro-Soria, Rene R; Robey, Seth S; Sampson, Kevin J KJ; Kass, Robert S RS; Larsson, H Peter HP
Publication Date: 2012-05-01

Variant appearance in text: KCNQ1: F351A
PubMed Link: 22509038
Variant Present in the following documents:
  • Main text
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Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal
Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V
Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: F351A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
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KCNE1 alters the voltage sensor movements necessary to open the KCNQ1 channel gate.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Osteen, Jeremiah D JD; Gonzalez, Carlos C; Sampson, Kevin J KJ; Iyer, Vivek V; Rebolledo, Santiago S; Larsson, H Peter HP; Kass, Robert S RS
Publication Date: 2010-12-28

Variant appearance in text: KCNQ1: F351A
PubMed Link: 21149716
Variant Present in the following documents:
  • Main text
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Role of the S6 C-terminus in KCNQ1 channel gating.

The Journal Of Physiology
Boulet, Inge R IR; Labro, Alain J AJ; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2007-12-01

Variant appearance in text: KCNQ1: F351A
PubMed Link: 17932138
Variant Present in the following documents:
  • Main text
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