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