Citations for
1LIDLS1, LIDLS2, LIDLS3, SCNN1A, SCNN1B, SCNN1G
A Family with Liddle Syndrome Caused by a Novel Stop-Gain Mutation in the γ Subunit of Epithelial Sodium Channels
Wang X, Cao C, Yao Q, Guo L, Li C, Li J.
Nephron. 146(6):647-651. doi: 10.1159/000525002. Epub 2022 Jun 3. 2022
2PCSK9, SCNN1A, SCNN1B, SCNN1G
Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9).
Sharotri V, Collier DM, Olson DR, Zhou R, Snyder PM.
J Biol Chem 287(23):19266-74. doi: 10.1074/jbc.M112.363382. Epub 2012 Apr 9. 2012
3PSALD, SCNN1B, SCNN1G
Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC.
Edelheit O, Hanukoglu I, Shriki Y, Tfilin M, Dascal N, Gillis D, Hanukoglu A.
J Steroid Biochem Mol Biol 119(1-2):84-8. Epub 2010 Jan 12.PMID: 20064610 2010
4SCNN1A, SCNN1B, SCNN1D, SCNN1G
Regulation of ENaC-mediated sodium transport by glucocorticoids in Reissner's membrane epithelium.
Kim SH, Kim KX, Raveendran NN, Wu T, Pondugula SR, Marcus DC.
Am J Physiol Cell Physiol 296(3):C544-57. Epub 2009 Jan 14.PMID: 19144862 2009
5SCNN1A, SCNN1B, SCNN1B, SCNN1G
Conditional gene targeting of the ENaC subunit genes Scnn1b and Scnn1g.
Mérillat AM, Charles RP, Porret A, Maillard M, Rossier B, Beermann F, Hummler E.
Am J Physiol Renal Physiol 296(2):F249-56. Epub 2008 Nov 26.PMID: 19036848 2009
6CASR, KCNJ1, NR3C2, SCNN1G, SNN1B
Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population.
Tobin MD, Tomaszewski M, Braund PS, Hajat C, Raleigh SM, Palmer TM, Caulfield M, Burton PR, Samani NJ.
Hypertension 51(6):1658-64. Epub 2008 Apr 28. 2008
7SCNN1A, SCNN1B, SCNN1D, SCNN1G
Epithelial sodium channel in a human trophoblast cell line (BeWo).
del Mónaco S, Assef Y, Kotsias BA.
J Membr Biol 223(3):127-39. Epub 2008 Jul 30.PMID: 18665318 2008
8SCNN1A, SCNN1B, SCNN1D, SCNN1G
Acute downregulation of ENaC by EGF involves the PY motif and putative ERK phosphorylation site.
Falin RA, Cotton CU.
J Gen Physiol 130(3):313-28.PMID: 17724164 2007
9PSALD, SCNN1B, NEDD4L, SCNN1G
Liddle's syndrome mutations increase Na+ transport through dual effects on epithelial Na+ channel surface expression and proteolytic cleavage.
Knight KK, Olson DR, Zhou R, Snyder PM.
Proc Natl Acad Sci U S A [Epub ahead of print] 2006
10CF, SCNN1B, SCNN1G, TNFRSF1A
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, Tummler B.
Hum Genet 119(3):331-43. Epub 2006 Feb 4. 2006
11CYPHB1, CYPHB2, NR3C2, HSD11B2, SCNN1B, SCNN1G, PSALD, PHA2C, WNK1, PHA2B, WNK4, DIDAN, PPARG, MTHHH, MT-TI
The genetic dissection of essential hypertension.
Cowley AW Jr.
Nat Rev Genet 7(11):829-40. Epub 2006 Oct 10. Review. 2006
12NEDD4L, SCNN1G
14-3-3 proteins modulate the expression of epithelial Na+ channels by phosphorylation-dependent interaction with Nedd4-2 ubiquitin ligase.
Ichimura T, Yamamura H, Sasamoto K, Tominaga Y, Taoka M, Kakiuchi K, Shinkawa T, Takahashi N, Shimada S, Isobe T.
J Biol Chem 280(13):13187-94. Epub 2005 Jan 26. 2005
13PSALD, SCNN1B, SCNN1G
Overexpression of the epithelial Na+ channel gamma subunit in collecting duct cells: interactions of Liddle's mutations and steroids on expression and function.
Volk KA, Husted RF, Sigmund RD, Stokes JB.
J Biol Chem 280(18):18348-54. Epub 2005 Mar 8. 2005
14COMMD1, SCNN1B, SCNN1D, SCNN1G
Identification of Murr1 as a regulator of the human delta epithelial sodium channel.
Biasio W, Chang T, McIntosh CJ, McDonald FJ.
J Biol Chem 279(7):5429-34. Epub 2003 Nov 27. 2004
15PHA1A1, PHA1B, SCNN1A, SCNN1B, SCNN1G
Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes.
Saxena A, Hanukoglu I, Saxena D, Thompson RJ, Gardiner RM, Hanukoglu A.
J Clin Endocrinol Metab 87(7):3344-50. 2002
16SCNN1A, SCNN1B, SCNN1G
Identification of cytoplasmic domains within the epithelial Na+ channel reactive at the plasma membrane.
Hendron E, Patel P, Hausenfluke M, Gamper N, Shapiro MS, Booth RE, Stockand JD.
J Biol Chem 277(37):34480-8. Epub 2002 Jul 01. 2002
17SCNN1G
Human amiloride-sensitive epithelial Na+ channel gamma subunit promoter: functional analysis and identification of a polypurine-polypyrimidine tract with the potential for triplex DNA formation.
Auerbach SD, Loftus RW, Itani OA, Thomas CP.
Biochem J 347 Pt 1:105-14. 2000
18NEDD4, PSALD, SCNN1B, SCNN1G
Defective regulation of the epithelial Na+ channel by nedd4 in Liddle's syndrome.
Abriel H, et al.
J Clin Invest 103(5):667-73. 1999
19SCNN1G
SacI identifies a biallelic polymorphism in the coding sequence of the gamma subunit of the epithelial sodium channel (ENaC) : a candidate gene for hypertension.
Viaplana R, et al.
Clin Genet 54 : 104-105. 1998
20PSALD, SCNN1B, SCNN1G
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 273 : 30012-30017. 1998
21PHA1A1, PHA1B, SCNN1A, SCNN1B, SCNN1G
Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping.
Strautnieks SS, et al.
Hum Mol Genet 5 : 293-299. 1996
22PHA1A1, SCNN1G
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.
Strautnieks SS, et al.
Nat Genet 13 : 248-250. 1996
23SCNN1G
Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel.
Thomas CP, et al.
J Biol Chem 271 : 26062-26066. 1996
24PSALD, SCNN1B, SCNN1G
Hypertension caused by a truncated epithelial sodium channel gamma subunit : genetic heterogeneity of Liddle syndrome.
Hansson JH, et al.
Nat Genet 11 : 76-82. 1995
25PSALD, SCNN1B, SCNN1G
Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel.
Snyder PM, et al.
Cell 83 : 969-978. 1995
26SCNN1G, SCNN1B
Cloning, chromosomal localization and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel.
Voilley N, et al.
Genomics 28 : 560-565. 1995
27SCNN1G
Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel.
Waldmann R, Champigny G, Bassilana F, Voilley N, Lazdunski M.
J Biol Chem 270(46):27411-4.PMID: 7499195 1995