Sort by
Items per page

Send to

Choose Destination

Search results

Items: 33


Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate.

Ruiz A, Gautschi I, Schild L, Bonny O.

Front Physiol. 2018 Jun 18;9:476. doi: 10.3389/fphys.2018.00476. eCollection 2018.


A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.

Salih M, Gautschi I, van Bemmelen MX, Di Benedetto M, Brooks AS, Lugtenberg D, Schild L, Hoorn EJ.

J Am Soc Nephrol. 2017 Nov;28(11):3291-3299. doi: 10.1681/ASN.2016111163. Epub 2017 Jul 14.


Proton and non-proton activation of ASIC channels.

Gautschi I, van Bemmelen MX, Schild L.

PLoS One. 2017 Apr 6;12(4):e0175293. doi: 10.1371/journal.pone.0175293. eCollection 2017.


Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron.

Ansermet C, Moor MB, Centeno G, Auberson M, Hu DZ, Baron R, Nikolaeva S, Haenzi B, Katanaeva N, Gautschi I, Katanaev V, Rotman S, Koesters R, Schild L, Pradervand S, Bonny O, Firsov D.

J Am Soc Nephrol. 2017 Apr;28(4):1073-1078. doi: 10.1681/ASN.2016070726. Epub 2016 Oct 31.


The Human Acid-Sensing Ion Channel ASIC1a: Evidence for a Homotetrameric Assembly State at the Cell Surface.

van Bemmelen MX, Huser D, Gautschi I, Schild L.

PLoS One. 2015 Aug 7;10(8):e0135191. doi: 10.1371/journal.pone.0135191. eCollection 2015.


Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.

García Segarra N, Gautschi I, Mittaz-Crettol L, Kallay Zetchi C, Al-Qusairi L, Van Bemmelen MX, Maeder P, Bonafé L, Schild L, Roulet-Perez E.

J Neurol Sci. 2014 Jul 15;342(1-2):69-78. doi: 10.1016/j.jns.2014.04.027. Epub 2014 Apr 27.


Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea.

Faller N, Gautschi I, Schild L.

PLoS One. 2014 Apr 10;9(4):e94267. doi: 10.1371/journal.pone.0094267. eCollection 2014.


Licorice-induced hypertension and common variants of genes regulating renal sodium reabsorption.

Miettinen HE, Piippo K, Hannila-Handelberg T, Paukku K, Hiltunen TP, Gautschi I, Schild L, Kontula K.

Ann Med. 2010 Sep;42(6):465-74. doi: 10.3109/07853890.2010.499133.


Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.

Riepe FG, van Bemmelen MX, Cachat F, Plendl H, Gautschi I, Krone N, Holterhus PM, Theintz G, Schild L.

Clin Endocrinol (Oxf). 2009 Feb;70(2):252-8. doi: 10.1111/j.1365-2265.2008.03314.x.


Cadmium trapping in an epithelial sodium channel pore mutant.

Takeda AN, Gautschi I, van Bemmelen MX, Schild L.

J Biol Chem. 2007 Nov 2;282(44):31928-36. Epub 2007 Sep 5.


A gating mutation in the internal pore of ASIC1a.

Pfister Y, Gautschi I, Takeda AN, van Bemmelen M, Kellenberger S, Schild L.

J Biol Chem. 2006 Apr 28;281(17):11787-91. Epub 2006 Feb 23.


Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

Hannila-Handelberg T, Kontula K, Tikkanen I, Tikkanen T, Fyhrquist F, Helin K, Fodstad H, Piippo K, Miettinen HE, Virtamo J, Krusius T, Sarna S, Gautschi I, Schild L, Hiltunen TP.

BMC Med Genet. 2005 Jan 20;6:4.


Intracellular thiol-mediated modulation of epithelial sodium channel activity.

Kellenberger S, Gautschi I, Pfister Y, Schild L.

J Biol Chem. 2005 Mar 4;280(9):7739-47. Epub 2004 Dec 28.


Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.

Fodstad H, Swan H, Auberson M, Gautschi I, Loffing J, Schild L, Kontula K.

J Mol Cell Cardiol. 2004 Aug;37(2):593-602.


Mutations in the epithelial Na+ channel ENaC outer pore disrupt amiloride block by increasing its dissociation rate.

Kellenberger S, Gautschi I, Schild L.

Mol Pharmacol. 2003 Oct;64(4):848-56.


Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome.

Pradervand S, Vandewalle A, Bens M, Gautschi I, Loffing J, Hummler E, Schild L, Rossier BC.

J Am Soc Nephrol. 2003 Sep;14(9):2219-28.


Affinity and specificity of interactions between Nedd4 isoforms and the epithelial Na+ channel.

Henry PC, Kanelis V, O'Brien MC, Kim B, Gautschi I, Forman-Kay J, Schild L, Rotin D.

J Biol Chem. 2003 May 30;278(22):20019-28. Epub 2003 Mar 22.


Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit.

Hiltunen TP, Hannila-Handelberg T, Petäjäniemi N, Kantola I, Tikkanen I, Virtamo J, Gautschi I, Schild L, Kontula K.

J Hypertens. 2002 Dec;20(12):2383-90.


An external site controls closing of the epithelial Na+ channel ENaC.

Kellenberger S, Gautschi I, Schild L.

J Physiol. 2002 Sep 1;543(Pt 2):413-24.


Permeability properties of ENaC selectivity filter mutants.

Kellenberger S, Auberson M, Gautschi I, Schneeberger E, Schild L.

J Gen Physiol. 2001 Dec;118(6):679-92.


Identification of a highly conserved sequence at the N-terminus of the epithelial Na+ channel alpha subunit involved in gating.

Gründer S, Jaeger NF, Gautschi I, Schild L, Rossier BC.

Pflugers Arch. 1999 Oct;438(5):709-15.


On the molecular basis of ion permeation in the epithelial Na+ channel.

Kellenberger S, Hoffmann-Pochon N, Gautschi I, Schneeberger E, Schild L.

J Gen Physiol. 1999 Jul;114(1):13-30.


The heterotetrameric architecture of the epithelial sodium channel (ENaC).

Firsov D, Gautschi I, Merillat AM, Rossier BC, Schild L.

EMBO J. 1998 Jan 15;17(2):344-52.


Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination.

Staub O, Gautschi I, Ishikawa T, Breitschopf K, Ciechanover A, Schild L, Rotin D.

EMBO J. 1997 Nov 3;16(21):6325-36.


A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.

Gründer S, Firsov D, Chang SS, Jaeger NF, Gautschi I, Schild L, Lifton RP, Rossier BC.

EMBO J. 1997 Mar 3;16(5):899-907.


Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach.

Firsov D, Schild L, Gautschi I, Mérillat AM, Schneeberger E, Rossier BC.

Proc Natl Acad Sci U S A. 1996 Dec 24;93(26):15370-5.


A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP.

Proc Natl Acad Sci U S A. 1995 Dec 5;92(25):11495-9.


A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system.

Schild L, Canessa CM, Shimkets RA, Gautschi I, Lifton RP, Rossier BC.

Proc Natl Acad Sci U S A. 1995 Jun 6;92(12):5699-703.


Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits.

Canessa CM, Schild L, Buell G, Thorens B, Gautschi I, Horisberger JD, Rossier BC.

Nature. 1994 Feb 3;367(6462):463-7.


Supplemental Content

Loading ...
Support Center