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Results: 1 to 20 of 283

Related Citations for PubMed (Select 19462466)

1.

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascáková M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Férec C, Claustres M, Tümmler B, Cassiman JJ, Korbmacher C, Cuppens H.

Hum Mutat. 2009 Jul;30(7):1093-103. doi: 10.1002/humu.21011.

PMID:
19462466
2.

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

Mutesa L, Azad AK, Verhaeghe C, Segers K, Vanbellinghen JF, Ngendahayo L, Rusingiza EK, Mutwa PR, Rulisa S, Koulischer L, Cassiman JJ, Cuppens H, Bours V.

Chest. 2009 May;135(5):1233-42. doi: 10.1378/chest.08-2246. Epub 2008 Nov 18.

PMID:
19017867
3.

A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.

Rauh R, Diakov A, Tzschoppe A, Korbmacher J, Azad AK, Cuppens H, Cassiman JJ, Dötsch J, Sticht H, Korbmacher C.

J Physiol. 2010 Apr 15;588(Pt 8):1211-25. doi: 10.1113/jphysiol.2009.180224. Epub 2010 Mar 1.

4.

Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation.

Handschick M, Hedtfeld S, Tümmler B.

J Cyst Fibros. 2012 Jan;11(1):53-5. doi: 10.1016/j.jcf.2011.08.008. Epub 2011 Sep 13.

5.

Functional characterization of a partial loss-of-function mutation of the epithelial sodium channel (ENaC) associated with atypical cystic fibrosis.

Huber R, Krueger B, Diakov A, Korbmacher J, Haerteis S, Einsiedel J, Gmeiner P, Azad AK, Cuppens H, Cassiman JJ, Korbmacher C, Rauh R.

Cell Physiol Biochem. 2010;25(1):145-58. doi: 10.1159/000272059. Epub 2009 Dec 22.

PMID:
20054153
6.

Role of the amiloride-sensitive epithelial Na+ channel in the pathogenesis and as a therapeutic target for cystic fibrosis lung disease.

Mall MA.

Exp Physiol. 2009 Feb;94(2):171-4. doi: 10.1113/expphysiol.2008.042994. Epub 2008 Dec 5.

7.
8.

ENaCbeta and gamma genes as modifier genes in cystic fibrosis.

Viel M, Leroy C, Hubert D, Fajac I, Bienvenu T.

J Cyst Fibros. 2008 Jan;7(1):23-9. Epub 2007 Jun 7.

9.

Cystic fibrosis transmembrane conductance regulator differentially regulates human and mouse epithelial sodium channels in Xenopus oocytes.

Yan W, Samaha FF, Ramkumar M, Kleyman TR, Rubenstein RC.

J Biol Chem. 2004 May 28;279(22):23183-92. Epub 2004 Mar 26.

10.

The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.

Stanke F, Becker T, Cuppens H, Kumar V, Cassiman JJ, Jansen S, Radojkovic D, Siebert B, Yarden J, Ussery DW, Wienker TF, Tümmler B.

Hum Genet. 2006 Apr;119(3):331-43. Epub 2006 Feb 4.

PMID:
16463024
11.

Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.

Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H.

J Cyst Fibros. 2008 Mar;7(2):102-9. Epub 2007 Jul 27.

12.

cAMP-dependent activation of CFTR inhibits the epithelial sodium channel (ENaC) without affecting its surface expression.

Konstas AA, Koch JP, Korbmacher C.

Pflugers Arch. 2003 Jan;445(4):513-21. Epub 2002 Nov 30.

PMID:
12548398
13.

Cl- interference with the epithelial Na+ channel ENaC.

Bachhuber T, König J, Voelcker T, Mürle B, Schreiber R, Kunzelmann K.

J Biol Chem. 2005 Sep 9;280(36):31587-94. Epub 2005 Jul 18.

14.

Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC.

Suaud L, Yan W, Carattino MD, Robay A, Kleyman TR, Rubenstein RC.

Am J Physiol Cell Physiol. 2007 Apr;292(4):C1553-61. Epub 2006 Dec 20.

15.

Molecular proximity of cystic fibrosis transmembrane conductance regulator and epithelial sodium channel assessed by fluorescence resonance energy transfer.

Berdiev BK, Cormet-Boyaka E, Tousson A, Qadri YJ, Oosterveld-Hut HM, Hong JS, Gonzales PA, Fuller CM, Sorscher EJ, Lukacs GL, Benos DJ.

J Biol Chem. 2007 Dec 14;282(50):36481-8. Epub 2007 Oct 3.

16.

Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.

Kraus C, Reis A, Naehrlich L, Dötsch J, Korbmacher C, Rauh R.

Cell Physiol Biochem. 2007;19(5-6):239-48.

PMID:
17495464
17.

Extensive molecular analysis of patients bearing CFTR-related disorders.

Amato F, Bellia C, Cardillo G, Castaldo G, Ciaccio M, Elce A, Lembo F, Tomaiuolo R.

J Mol Diagn. 2012 Jan;14(1):81-9. doi: 10.1016/j.jmoldx.2011.09.001. Epub 2011 Oct 20.

18.

A mutation in the β-subunit of ENaC identified in a patient with cystic fibrosis-like symptoms has a gain-of-function effect.

Rauh R, Soell D, Haerteis S, Diakov A, Nesterov V, Krueger B, Sticht H, Korbmacher C.

Am J Physiol Lung Cell Mol Physiol. 2013 Jan 1;304(1):L43-55. doi: 10.1152/ajplung.00093.2012. Epub 2012 Oct 19.

19.

Effect of cytosolic pH on epithelial Na+ channel in normal and cystic fibrosis sweat ducts.

Reddy MM, Wang XF, Quinton PM.

J Membr Biol. 2008 Sep-Oct;225(1-3):1-11. doi: 10.1007/s00232-008-9126-4. Epub 2008 Oct 21.

PMID:
18937003
20.

Dual therapeutic utility of proteasome modulating agents for pharmaco-gene therapy of the cystic fibrosis airway.

Zhang LN, Karp P, Gerard CJ, Pastor E, Laux D, Munson K, Yan Z, Liu X, Godwin S, Thomas CP, Zabner J, Shi H, Caldwell CW, Peluso R, Carter B, Engelhardt JF.

Mol Ther. 2004 Dec;10(6):990-1002.

PMID:
15564131
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