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Results: 1 to 20 of 122

1.

Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel.

Snyder PM, Price MP, McDonald FJ, Adams CM, Volk KA, Zeiher BG, Stokes JB, Welsh MJ.

Cell. 1995 Dec 15;83(6):969-78.

PMID:
8521520
[PubMed - indexed for MEDLINE]
Free Article
2.

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.

PMID:
12473862
[PubMed - indexed for MEDLINE]
3.

Inhibition of the epithelial Na+ channel by interaction of Nedd4 with a PY motif deleted in Liddle's syndrome.

Goulet CC, Volk KA, Adams CM, Prince LS, Stokes JB, Snyder PM.

J Biol Chem. 1998 Nov 6;273(45):30012-7.

PMID:
9792722
[PubMed - indexed for MEDLINE]
Free Article
4.

Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome.

Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC.

EMBO J. 1996 May 15;15(10):2381-7.

PMID:
8665845
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The NH(2) terminus of the epithelial sodium channel contains an endocytic motif.

Chalfant ML, Denton JS, Langloh AL, Karlson KH, Loffing J, Benos DJ, Stanton BA.

J Biol Chem. 1999 Nov 12;274(46):32889-96.

PMID:
10551853
[PubMed - indexed for MEDLINE]
Free Article
6.

Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension.

Melander O, Orho M, Fagerudd J, Bengtsson K, Groop PH, Mattiasson I, Groop L, Hulthén UL.

Hypertension. 1998 May;31(5):1118-24.

PMID:
9576123
[PubMed - indexed for MEDLINE]
Free Article
7.

The activity of the epithelial sodium channel is regulated by clathrin-mediated endocytosis.

Shimkets RA, Lifton RP, Canessa CM.

J Biol Chem. 1997 Oct 10;272(41):25537-41.

PMID:
9325269
[PubMed - indexed for MEDLINE]
Free Article
8.

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.

Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JR Jr, Ulick S, Milora RV, Findling JW, et al.

Cell. 1994 Nov 4;79(3):407-14.

PMID:
7954808
[PubMed - indexed for MEDLINE]
9.

Epithelial Na+ channel mutants causing Liddle's syndrome retain ability to respond to aldosterone and vasopressin.

Auberson M, Hoffmann-Pochon N, Vandewalle A, Kellenberger S, Schild L.

Am J Physiol Renal Physiol. 2003 Sep;285(3):F459-71. Epub 2003 May 20.

PMID:
12759227
[PubMed - indexed for MEDLINE]
Free Article
10.

Conservation of pH sensitivity in the epithelial sodium channel (ENaC) with Liddle's syndrome mutation.

Konstas AA, Mavrelos D, Korbmacher C.

Pflugers Arch. 2000 Dec;441(2-3):341-50.

PMID:
11211122
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
9118951
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Charged residues in the M2 region of alpha-hENaC play a role in channel conductance.

Langloh AL, Berdiev B, Ji HL, Keyser K, Stanton BA, Benos DJ.

Am J Physiol Cell Physiol. 2000 Feb;278(2):C277-91.

PMID:
10666023
[PubMed - indexed for MEDLINE]
Free Article
13.

Acute downregulation of ENaC by EGF involves the PY motif and putative ERK phosphorylation site.

Falin RA, Cotton CU.

J Gen Physiol. 2007 Sep;130(3):313-28.

PMID:
17724164
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Regulation of a cloned epithelial Na+ channel by its beta- and gamma-subunits.

Awayda MS, Tousson A, Benos DJ.

Am J Physiol. 1997 Dec;273(6 Pt 1):C1889-99.

PMID:
9435494
[PubMed - indexed for MEDLINE]
Free Article
15.

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.

PMID:
8524790
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome.

Staub O, Dho S, Henry P, Correa J, Ishikawa T, McGlade J, Rotin D.

EMBO J. 1996 May 15;15(10):2371-80.

PMID:
8665844
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
7777572
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP.

Nat Genet. 1995 Sep;11(1):76-82.

PMID:
7550319
[PubMed - indexed for MEDLINE]
19.

A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome.

Sawathiparnich P, Sumboonnanonda A, Weerakulwattana P, Limwongse C.

J Pediatr Endocrinol Metab. 2009 Jan;22(1):85-9.

PMID:
19344079
[PubMed - indexed for MEDLINE]
20.

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.

Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, Corvol P, Barbry P.

J Hypertens. 1997 Oct;15(10):1091-100.

PMID:
9350583
[PubMed - indexed for MEDLINE]

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