CFTR c.4111_4112inv ;(p.E1371S)

Variant ID: 7-117304889-GA-TC

NM_000492.3(CFTR):c.4111_4112inv;(p.E1371S)

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Molecular pathology of the R117H cystic fibrosis mutation is explained by loss of a hydrogen bond.

Elife
Simon, Márton A MA; Csanády, László L
Publication Date: 2021-12-06

Variant appearance in text: CFTR: E1371S
PubMed Link: 34870594
Variant Present in the following documents:
  • Main text
  • elife-74693.pdf
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Molecular pathology of the R117H cystic fibrosis mutation is explained by loss of a hydrogen bond.

Elife
Simon, Márton A MA; Csanády, László L
Publication Date: 2021-12-06

Variant appearance in text: CFTR: E1371S
PubMed Link: 34870594
Variant Present in the following documents:
  • Main text
  • elife-74693.pdf
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Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine.

Frontiers In Pharmacology
Pranke, Iwona I; Golec, Anita A; Hinzpeter, Alexandre A; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I
Publication Date: 2019

Variant appearance in text: CFTR: E1371S
PubMed Link: 30873022
Variant Present in the following documents:
  • Main text
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Structural mechanisms for defective CFTR gating caused by the Q1412X mutation, a severe Class VI pathogenic mutation in cystic fibrosis.

The Journal Of Physiology
Yeh, Jiunn-Tyng JT; Yu, Ying-Chun YC; Hwang, Tzyh-Chang TC
Publication Date: 2019-01

Variant appearance in text: CFTR: E1371S
PubMed Link: 30408177
Variant Present in the following documents:
  • Main text
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Potentiation of the cystic fibrosis transmembrane conductance regulator by VX-770 involves stabilization of the pre-hydrolytic, O1 state.

British Journal Of Pharmacology
Langron, Emily E; Prins, Stella S; Vergani, Paola P
Publication Date: 2018-10

Variant appearance in text: CFTR: E1371S
PubMed Link: 30107029
Variant Present in the following documents:
  • Main text
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Physiological and pharmacological characterization of the N1303K mutant CFTR.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
DeStefano, Samantha S; Gees, Maarten M; Hwang, Tzyh-Chang TC
Publication Date: 2018-09

Variant appearance in text: CFTR: E1371S
PubMed Link: 29887518
Variant Present in the following documents:
  • Main text
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A common mechanism for CFTR potentiators.

The Journal Of General Physiology
Yeh, Han-I HI; Sohma, Yoshiro Y; Conrath, Katja K; Hwang, Tzyh-Chang TC
Publication Date: 2017-12-04

Variant appearance in text: CFTR: E1371S
PubMed Link: 29079713
Variant Present in the following documents:
  • Main text
  • JGP_201711886_sm.pdf
  • JGP_201711886.pdf
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CFTR potentiators: from bench to bedside.

Current Opinion In Pharmacology
Jih, Kang-Yang KY; Lin, Wen-Ying WY; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2017-06

Variant appearance in text: CFTR: E1371S
PubMed Link: 29073476
Variant Present in the following documents:
  • Main text
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Chaperones rescue the energetic landscape of mutant CFTR at single molecule and in cell.

Nature Communications
Bagdany, Miklos M; Veit, Guido G; Fukuda, Ryosuke R; Avramescu, Radu G RG; Okiyoneda, Tsukasa T; Baaklini, Imad I; Singh, Jay J; Sovak, Guy G; Xu, Haijin H; Apaja, Pirjo M PM; Sattin, Sara S; Beitel, Lenore K LK; Roldan, Ariel A; Colombo, Giorgio G; Balch, William W; Young, Jason C JC; Lukacs, Gergely L GL
Publication Date: 2017-08-30

Variant appearance in text: CFTR: E1371S
PubMed Link: 28855508
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_444.pdf
  • 41467_2017_444_MOESM1_ESM.pdf
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Synergistic Potentiation of Cystic Fibrosis Transmembrane Conductance Regulator Gating by Two Chemically Distinct Potentiators, Ivacaftor (VX-770) and 5-Nitro-2-(3-Phenylpropylamino) Benzoate.

Molecular Pharmacology
Lin, Wen-Ying WY; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2016-09

Variant appearance in text: CFTR: E1371S
PubMed Link: 27413118
Variant Present in the following documents:
  • Main text
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How Phosphorylation and ATPase Activity Regulate Anion Flux though the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR).

The Journal Of Biological Chemistry
Zwick, Matthias M; Esposito, Cinzia C; Hellstern, Manuel M; Seelig, Anna A
Publication Date: 2016-07-08

Variant appearance in text: CFTR: E1371S
PubMed Link: 27226582
Variant Present in the following documents:
  • Main text
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Modulation of CFTR gating by permeant ions.

The Journal Of General Physiology
Yeh, Han-I HI; Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC
Publication Date: 2015-01

Variant appearance in text: CFTR: E1371S
PubMed Link: 25512598
Variant Present in the following documents:
  • Main text
  • JGP_201411272.pdf
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The cystic fibrosis transmembrane conductance regulator is an extracellular chloride sensor.

Pflugers Archiv : European Journal Of Physiology
Broadbent, Steven D SD; Ramjeesingh, Mohabir M; Bear, Christine E CE; Argent, Barry E BE; Linsdell, Paul P; Gray, Michael A MA
Publication Date: 2015-08

Variant appearance in text: CFTR: E1371S
PubMed Link: 25277268
Variant Present in the following documents:
  • Main text
  • 424_2014_Article_1618.pdf
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Structure-activity analysis of a CFTR channel potentiator: Distinct molecular parts underlie dual gating effects.

The Journal Of General Physiology
Csanády, László L; Töröcsik, Beáta B
Publication Date: 2014-10

Variant appearance in text: CFTR: E1371S
PubMed Link: 25267914
Variant Present in the following documents:
  • Main text
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An electrostatic interaction at the tetrahelix bundle promotes phosphorylation-dependent cystic fibrosis transmembrane conductance regulator (CFTR) channel opening.

The Journal Of Biological Chemistry
Wang, Wei W; Roessler, Bryan C BC; Kirk, Kevin L KL
Publication Date: 2014-10-31

Variant appearance in text: CFTR: E1371S
PubMed Link: 25190805
Variant Present in the following documents:
  • Main text
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Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression.

Science Translational Medicine
Veit, Guido G; Avramescu, Radu G RG; Perdomo, Doranda D; Phuan, Puay-Wah PW; Bagdany, Miklos M; Apaja, Pirjo M PM; Borot, Florence F; Szollosi, Daniel D; Wu, Yu-Sheng YS; Finkbeiner, Walter E WE; Hegedus, Tamas T; Verkman, Alan S AS; Lukacs, Gergely L GL
Publication Date: 2014-07-23

Variant appearance in text: CFTR: E1371S
PubMed Link: 25101887
Variant Present in the following documents:
  • Main text
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Catalyst-like modulation of transition states for CFTR channel opening and closing: new stimulation strategy exploits nonequilibrium gating.

The Journal Of General Physiology
Csanády, László L; Töröcsik, Beáta B
Publication Date: 2014-02

Variant appearance in text: CFTR: E1371S
PubMed Link: 24420771
Variant Present in the following documents:
  • Main text
  • JGP_201311089.pdf
  • supp_jgp.201311089_JGP_201311089_sm.pdf
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Conformational changes in the catalytically inactive nucleotide-binding site of CFTR.

The Journal Of General Physiology
Csanády, László L; Mihályi, Csaba C; Szollosi, Andras A; Töröcsik, Beáta B; Vergani, Paola P
Publication Date: 2013-07

Variant appearance in text: CFTR: E1371S
PubMed Link: 23752332
Variant Present in the following documents:
  • Main text
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Nonequilibrium gating of CFTR on an equilibrium theme.

Physiology (Bethesda, Md.)
Jih, Kang-Yang KY; Hwang, Tzyh-Chang TC
Publication Date: 2012-12

Variant appearance in text: CFTR: E1371S
PubMed Link: 23223629
Variant Present in the following documents:
  • Main text
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Nonintegral stoichiometry in CFTR gating revealed by a pore-lining mutation.

The Journal Of General Physiology
Jih, Kang-Yang KY; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2012-10

Variant appearance in text: CFTR: E1371S
PubMed Link: 22966014
Variant Present in the following documents:
  • Main text
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CFTR: an ion channel with a transporter-type energy-coupling mechanism.

The Journal Of General Physiology
Tsai, Ming-Feng MF
Publication Date: 2012-10

Variant appearance in text: CFTR: E1371S
PubMed Link: 22966013
Variant Present in the following documents:
  • Main text
  • JGP_201210882.pdf
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Identification of a novel post-hydrolytic state in CFTR gating.

The Journal Of General Physiology
Jih, Kang-Yang KY; Sohma, Yoshiro Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2012-05

Variant appearance in text: CFTR: E1371S
PubMed Link: 22508846
Variant Present in the following documents:
  • Main text
  • JGP_201210789.pdf
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The most common cystic fibrosis-associated mutation destabilizes the dimeric state of the nucleotide-binding domains of CFTR.

The Journal Of Physiology
Jih, Kang-Yang KY; Li, Min M; Hwang, Tzyh-Chang TC; Bompadre, Silvia G SG
Publication Date: 2011-06-01

Variant appearance in text: CFTR: E1371S
PubMed Link: 21486785
Variant Present in the following documents:
  • Main text
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On the mechanism of CFTR inhibition by a thiazolidinone derivative.

The Journal Of General Physiology
Kopeikin, Zoia Z; Sohma, Yoshiro Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2010-12

Variant appearance in text: CFTR: E1371S
PubMed Link: 21078867
Variant Present in the following documents:
  • Main text
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Involvement of F1296 and N1303 of CFTR in induced-fit conformational change in response to ATP binding at NBD2.

The Journal Of General Physiology
Szollosi, Andras A; Vergani, Paola P; Csanády, László L
Publication Date: 2010-10

Variant appearance in text: CFTR: E1371S
PubMed Link: 20876359
Variant Present in the following documents:
  • Main text
  • JGP_201010434.pdf
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A stable ATP binding to the nucleotide binding domain is important for reliable gating cycle in an ABC transporter CFTR.

The Journal Of Physiological Sciences : Jps
Shimizu, Hiroyasu H; Yu, Ying-Chun YC; Kono, Koichi K; Kubota, Takahiro T; Yasui, Masato M; Li, Min M; Hwang, Tzyh-Chang TC; Sohma, Yoshiro Y
Publication Date: 2010-09

Variant appearance in text: CFTR: E1371S
PubMed Link: 20628841
Variant Present in the following documents:
  • Main text
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The H-loop in the second nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator is required for efficient chloride channel closing.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology
Kloch, Monika M; Milewski, Michał M; Nurowska, Ewa E; Dworakowska, Beata B; Cutting, Garry R GR; Dołowy, Krzysztof K
Publication Date: 2010

Variant appearance in text: CFTR: E1371S
PubMed Link: 20110677
Variant Present in the following documents:
  • Main text
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Strict coupling between CFTR's catalytic cycle and gating of its Cl- ion pore revealed by distributions of open channel burst durations.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Csanády, László L; Vergani, Paola P; Gadsby, David C DC
Publication Date: 2010-01-19

Variant appearance in text: CFTR: E1371S
PubMed Link: 19966305
Variant Present in the following documents:
  • Main text
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State-dependent modulation of CFTR gating by pyrophosphate.

The Journal Of General Physiology
Tsai, Ming-Feng MF; Shimizu, Hiroyasu H; Sohma, Yoshiro Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2009-04

Variant appearance in text: CFTR: E1371S
PubMed Link: 19332621
Variant Present in the following documents:
  • Main text
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The two ATP binding sites of cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics.

The Journal Of General Physiology
Zhou, Zhen Z; Wang, Xiaohui X; Liu, Hao-Yang HY; Zou, Xiaoqin X; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2006-10

Variant appearance in text: CFTR: E1371S
PubMed Link: 16966475
Variant Present in the following documents:
  • Main text
  • jgp1280413.pdf
  • jgenphysiol_jgp.200609622_1.pdf
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The role of cystic fibrosis transmembrane conductance regulator phenylalanine 508 side chain in ion channel gating.

The Journal Of Physiology
Cui, Liying L; Aleksandrov, Luba L; Hou, Yue-Xian YX; Gentzsch, Martina M; Chen, Jey-Hsin JH; Riordan, John R JR; Aleksandrov, Andrei A AA
Publication Date: 2006-04-15

Variant appearance in text: CFTR: E1371S
PubMed Link: 16484308
Variant Present in the following documents:
  • Main text
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High affinity ATP/ADP analogues as new tools for studying CFTR gating.

The Journal Of Physiology
Zhou, Zhen Z; Wang, Xiaohui X; Li, Min M; Sohma, Yoshiro Y; Zou, Xiaoqin X; Hwang, Tzyh-Chang TC
Publication Date: 2005-12-01

Variant appearance in text: CFTR: E1371S
PubMed Link: 16223764
Variant Present in the following documents:
  • Main text
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CFTR gating II: Effects of nucleotide binding on the stability of open states.

The Journal Of General Physiology
Bompadre, Silvia G SG; Cho, Jeong Han JH; Wang, Xiaohui X; Zou, Xiaoqin X; Sohma, Yoshiro Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2005-04

Variant appearance in text: CFTR: E1371S
PubMed Link: 15767296
Variant Present in the following documents:
  • Main text
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On the mechanism of MgATP-dependent gating of CFTR Cl- channels.

The Journal Of General Physiology
Vergani, Paola P; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2003-01

Variant appearance in text: CFTR: E1371S
PubMed Link: 12508051
Variant Present in the following documents:
  • Main text
  • 20028673.pdf
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