CFTR c.4108G>A ;(p.D1370N)

Variant ID: 7-117304886-G-A

NM_000492.3(CFTR):c.4108G>A;(p.D1370N)

This variant was identified in 22 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: D1370N
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: D1370N
PubMed Link: 34870594
Variant Present in the following documents:
  • Main text
  • elife-74693.pdf
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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: D1370N
PubMed Link: 30107029
Variant Present in the following documents:
  • Main text
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Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: D1370N
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
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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: D1370N
PubMed Link: 29079713
Variant Present in the following documents:
  • Main text
  • JGP_201711886.pdf
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Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions.

Elife
Sorum, Ben B; Töröcsik, Beáta B; Csanády, László L
Publication Date: 2017-09-25

Variant appearance in text: CFTR: D1370N
PubMed Link: 28944753
Variant Present in the following documents:
  • Main text
  • elife-29013.pdf
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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: D1370N
PubMed Link: 25512598
Variant Present in the following documents:
  • Main text
  • JGP_201411272.pdf
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ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.

The Journal Of Biological Chemistry
Randak, Christoph O CO; Dong, Qian Q; Ver Heul, Amanda R AR; Elcock, Adrian H AH; Welsh, Michael J MJ
Publication Date: 2013-09-20

Variant appearance in text: CFTR: D1370N
PubMed Link: 23921386
Variant Present in the following documents:
  • Main text
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Demonstration of phosphoryl group transfer indicates that the ATP-binding cassette (ABC) transporter cystic fibrosis transmembrane conductance regulator (CFTR) exhibits adenylate kinase activity.

The Journal Of Biological Chemistry
Randak, Christoph O CO; Ver Heul, Amanda R AR; Welsh, Michael J MJ
Publication Date: 2012-10-19

Variant appearance in text: CFTR: D1370N
PubMed Link: 22948143
Variant Present in the following documents:
  • Main text
  • zbc36105.pdf
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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: D1370N
PubMed Link: 21078867
Variant Present in the following documents:
  • Main text
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State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2010-12-24

Variant appearance in text: CFTR: D1370N
PubMed Link: 20952391
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: D1370N
PubMed Link: 20876359
Variant Present in the following documents:
  • Main text
  • JGP_201010434.pdf
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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: D1370N
PubMed Link: 19966305
Variant Present in the following documents:
  • Main text
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Direct sensing of intracellular pH by the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel.

The Journal Of Biological Chemistry
Chen, Jeng-Haur JH; Cai, Zhiwei Z; Sheppard, David N DN
Publication Date: 2009-12-18

Variant appearance in text: CFTR: D1370N
PubMed Link: 19837660
Variant Present in the following documents:
  • Main text
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Review. ATP hydrolysis-driven gating in cystic fibrosis transmembrane conductance regulator.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences
Muallem, Daniella D; Vergani, Paola P
Publication Date: 2009-01-27

Variant appearance in text: CFTR: D1370N
PubMed Link: 18957373
Variant Present in the following documents:
  • Main text
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A mutation in CFTR modifies the effects of the adenylate kinase inhibitor Ap5A on channel gating.

Biophysical Journal
Dong, Qian Q; Randak, Christoph O CO; Welsh, Michael J MJ
Publication Date: 2008-12

Variant appearance in text: CFTR: D1370N
PubMed Link: 18805924
Variant Present in the following documents:
  • Main text
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Control of the CFTR channel's gates.

Biochemical Society Transactions
Vergani, P P; Basso, C C; Mense, M M; Nairn, A C AC; Gadsby, D C DC
Publication Date: 2005-11

Variant appearance in text: CFTR: D1370N
PubMed Link: 16246032
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: D1370N
PubMed Link: 15767296
Variant Present in the following documents:
  • Main text
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CFTR gating I: Characterization of the ATP-dependent gating of a phosphorylation-independent CFTR channel (DeltaR-CFTR).

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

Variant appearance in text: CFTR: D1370N
PubMed Link: 15767295
Variant Present in the following documents:
  • Main text
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ADP inhibits function of the ABC transporter cystic fibrosis transmembrane conductance regulator via its adenylate kinase activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Randak, Christoph O CO; Welsh, Michael J MJ
Publication Date: 2005-02-08

Variant appearance in text: CFTR: D1370N
PubMed Link: 15684079
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: D1370N
PubMed Link: 12508051
Variant Present in the following documents:
  • Main text
  • 20028673.pdf
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Regulation of CFTR Cl- channel gating by ATP binding and hydrolysis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ikuma, M M; Welsh, M J MJ
Publication Date: 2000-07-18

Variant appearance in text: CFTR: D1370N
PubMed Link: 10880569
Variant Present in the following documents:
  • Main text
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CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.

The Journal Of General Physiology
Wilkinson, D J DJ; Mansoura, M K MK; Watson, P Y PY; Smit, L S LS; Collins, F S FS; Dawson, D C DC
Publication Date: 1996-01

Variant appearance in text: CFTR: D1370N
PubMed Link: 8741733
Variant Present in the following documents:
  • jg1071103.pdf
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