Jentsch TJ - Search Results

1

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

Fernandes-Rosa FL, Daniil G, Orozco IJ, Göppner C, El Zein R, Jain V, Boulkroun S, Jeunemaitre X, Amar L, Lefebvre H, Schwarzmayr T, Strom TM, Jentsch TJ, Zennaro MC. Fernandes-Rosa FL, et al. Among authors: jentsch tj. Nat Genet. 2018 Mar;50(3):355-361. doi: 10.1038/s41588-018-0053-8. Epub 2018 Feb 5. Nat Genet. 2018. PMID: 29403012 Free article.

2

A chloride channel widely expressed in epithelial and non-epithelial cells.

Thiemann A, Gründer S, Pusch M, Jentsch TJ. Thiemann A, et al. Among authors: jentsch tj. Nature. 1992 Mar 5;356(6364):57-60. doi: 10.1038/356057a0. Nature. 1992. PMID: 1311421

3

Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion.

Pusch M, Ludewig U, Rehfeldt A, Jentsch TJ. Pusch M, et al. Among authors: jentsch tj. Nature. 1995 Feb 9;373(6514):527-31. doi: 10.1038/373527a0. Nature. 1995. PMID: 7845466

4

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC. Meyer-Kleine C, et al. Among authors: jentsch tj. Am J Hum Genet. 1995 Dec;57(6):1325-34. Am J Hum Genet. 1995. PMID: 8533761 Free PMC article.

5

Chloride channels: an emerging molecular picture.

Jentsch TJ, Günther W. Jentsch TJ, et al. Bioessays. 1997 Feb;19(2):117-26. doi: 10.1002/bies.950190206. Bioessays. 1997. PMID: 9046241 Review.

6

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ. Kubisch C, et al. Among authors: jentsch tj. Hum Mol Genet. 1998 Oct;7(11):1753-60. doi: 10.1093/hmg/7.11.1753. Hum Mol Genet. 1998. PMID: 9736777

7

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.

Schroeder BC, Kubisch C, Stein V, Jentsch TJ. Schroeder BC, et al. Among authors: jentsch tj. Nature. 1998 Dec 17;396(6712):687-90. doi: 10.1038/25367. Nature. 1998. PMID: 9872318

8

ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.

Piwon N, Günther W, Schwake M, Bösl MR, Jentsch TJ. Piwon N, et al. Among authors: jentsch tj. Nature. 2000 Nov 16;408(6810):369-73. doi: 10.1038/35042597. Nature. 2000. PMID: 11099045

9

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.

Estévez R, Boettger T, Stein V, Birkenhäger R, Otto E, Hildebrandt F, Jentsch TJ. Estévez R, et al. Among authors: jentsch tj. Nature. 2001 Nov 29;414(6863):558-61. doi: 10.1038/35107099. Nature. 2001. PMID: 11734858

10

Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins.

Scheel O, Zdebik AA, Lourdel S, Jentsch TJ. Scheel O, et al. Among authors: jentsch tj. Nature. 2005 Jul 21;436(7049):424-7. doi: 10.1038/nature03860. Nature. 2005. PMID: 16034422

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