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1 to 25 of 76  Show
  1. 1
    "Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel."
    Thomas C.P., Doggett N.A., Fisher R., Stokes J.B.
    J. Biol. Chem. 271:26062-26066(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
    Category: Sequences.
    Source: UniProtKB/TrEMBL (unreviewed).

    This publication is cited by 5 other entries.

  2. 2
    "Polymorphism (-173G>A) in promoter of human epithelial sodium channel gamma subunit gene (SCNN1G) and association analysis in essential hypertension."
    Morris B., Benjafield A., Ishikawa K., Iawi N.
    Hum Mutat 17:157-157(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech, Sequences.
    Annotation: Not Associated with CARDIOVASCULAR: hypertension. [GAD:133974, GAD:133973]. Observational study of gene-disease association. (HuGE Navigator). [GeneRIF:6340].
    Source: GAD:133974, GeneRIF:6340, GAD:133973.

    This publication is mapped to 6 other entries.

  3. 3
    "Association of sodium channel gamma-subunit promoter variant with blood pressure."
    Iwai N., Baba S., Mannami T., Katsuya T., Higaki J., Ogihara T., Ogata J.
    Hypertension 38:86-89(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech, Sequences.
    Annotation: Associated with CARDIOVASCULAR: hypertension. [GAD:133975]. Observational study of gene-disease association. (HuGE Navigator). [GeneRIF:6340].
    Source: GAD:133975, GeneRIF:6340.

    This publication is mapped to 6 other entries.

  4. 4
    "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 R.J., Gardiner R.M., Hanukoglu A.
    J. Clin. Endocrinol. Metab. 87:3344-3350(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel gamma-subunit gene.
    Source: GeneRIF:6340.

    This publication is cited by 2 and mapped to 12 other entries.

  5. 5
    "Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit."
    Hiltunen T.P., Hannila-Handelberg T., Petaejaeniemi N., Kantola I., Tikkanen I., Virtamo J., Gautschi I., Schild L., Kontula K.
    J. Hypertens. 20:2383-2390(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: GammaENaC Asn530Ser mutation increases channel open probability and is consistent with abnormally high sodium reabsorption in distal nephron. First mutation in extracellular domain of ENaC subunit with increased ENaC activity and Liddle's syndrome.
    Source: GeneRIF:6340.

    This publication is mapped to 5 other entries.

  6. 6
    "Functional interaction of CFTR and ENaC in sweat glands."
    Reddy M.M., Quinton P.M.
    Pflugers Arch 445:499-503(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Not only are CFTR and ENaC activated together in duct salt absorption but ENaC activation depends on functioning CFTR.
    Source: GeneRIF:6340.

    This publication is mapped to 73 other entries.

  7. 7
    "Cytokine-dependent transcriptional down-regulation of epithelial sodium channel in ulcerative colitis."
    Amasheh S., Barmeyer C., Koch C.S., Tavalali S., Mankertz J., Epple H.J., Gehring M.M., Florian P., Kroesen A.J., Zeitz M., Fromm M., Schulzke J.D.
    Gastroenterology 126:1711-1720(2004) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: in ulcerative colitis elevated proinflammatory cytokines selectively impair beta- and gamma-ENaC expression which contributes to diarrhea by reducing colonic sodium absorption.
    Source: GeneRIF:6340.

    This publication is mapped to 10 other entries.

  8. 8
    "Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives."
    Kamide K., Tanaka C., Takiuchi S., Miwa Y., Yoshii M., Horio T., Kawano Y., Miyata T.
    Hypertens Res 27:333-338(2004) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: The roles of these missense mutations in the SCNN1B or SCNN1G gene identified in hypertensive patients are not clear in the pathogenesis of hypertension and the regulation of electrolytes; Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:6340.

    This publication is mapped to 10 other entries.

  9. 9
    "cAMP and serum and glucocorticoid-inducible kinase (SGK) regulate the epithelial Na(+) channel through convergent phosphorylation of Nedd4-2."
    Snyder P.M., Olson D.R., Kabra R., Zhou R., Steines J.C.
    J. Biol. Chem. 279:45753-45758(2004) [PubMed] [Europe PMC] [Abstract]
    Category: PTM / Processing.
    Annotation: cAMP regulates ENaC in part by phosphorylation and inhibition of Nedd4-2. Moreover Nedd4-2 is a central convergence point for kinase regulation of Na(+) transport.
    Source: GeneRIF:6340.

    This publication is mapped to 30 other entries.

  10. 10
    "Overexpression of epithelial sodium channels in epithelium of human urinary bladder with outlet obstruction."
    Araki I., Du S., Kamiyama M., Mikami Y., Matsushita K., Komuro M., Furuya Y., Takeda M.
    Urology 64:1255-1260(2004) [PubMed] [Europe PMC] [Abstract]
    Category: Expression.
    Annotation: The ENaC expressed in the bladder epithelium might be implicated in the mechanosensory transduction in the bladder afferent pathways thereby inducing detrusor instability by outlet obstruction.
    Source: GeneRIF:6340.

    This publication is mapped to 15 other entries.

  11. 11
    "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 H.E., Virtamo J., Krusius T., Sarna S., Gautschi I., Schild L., Hiltunen T.P.
    BMC Med Genet 6:4-4(2005) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator); Common variants of the ENaC gamma subunit confer susceptibility to human essential hypertension.
    Source: GeneRIF:6340.

    This publication is mapped to 10 other entries.

  12. 12
    "ClC-5 chloride channel alters expression of the epithelial sodium channel (ENaC)."
    Mo L., Wills N.K.
    J Membr Biol 202:21-37(2004) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Subcellular Location.
    Annotation: We conclude that overexpression of ClC-5 specifically amino acids 347-647 can alter the normal translation or trafficking of ENaC and other ion transport proteins by a mechanism that is independent of the chloride conductance of ClC-5.
    Source: GeneRIF:6340.

    This publication is mapped to 10 other entries.

  13. 13
    "A multilocus approach to the antihypertensive pharmacogenetics of hydrochlorothiazide."
    Maitland-van der Zee A.H., Turner S.T., Schwartz G.L., Chapman A.B., Klungel O.H., Boerwinkle E.
    Pharmacogenet Genomics 15:287-293(2005) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:6340.

    This publication is mapped to 6 other entries.

  14. 14
    "WNK1 kinase polymorphism and blood pressure response to a thiazide diuretic."
    Turner S.T., Schwartz G.L., Chapman A.B., Boerwinkle E.
    Hypertension 46:758-765(2005) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:6340.

    This publication is mapped to 19 other entries.

  15. 15
    "Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction."
    Ji H.L., Su X.F., Kedar S., Li J., Barbry P., Smith P.R., Matalon S., Benos D.J.
    J. Biol. Chem. 281:8233-8241(2006) [PubMed] [Europe PMC] [Abstract]
    Category: Interaction.
    Annotation: the interactions of delta-ENaC with alpha beta gamma-human epithelial sodium channel subunits could account for heterogeneity of native epithelial channels.
    Source: GeneRIF:6340.

    This publication is cited by 2 and mapped to 18 other entries.

  16. 16
    "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 J.J., Jansen S., Radojkovic D., Siebert B., Yarden J., Ussery D.W., Wienker T.F., Tummler B.
    Hum Genet 119:331-343(2006) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator); SCNN1G is a modulator in Cystic Fibrosis.
    Source: GeneRIF:6340.

    This publication is mapped to 18 other entries.

  17. 17
    "Rab27a regulates epithelial sodium channel (ENaC) activity through synaptotagmin-like protein (SLP-5) and Munc13-4 effector mechanism."
    Saxena S.K., Horiuchi H., Fukuda M.
    Biochem Biophys Res Commun 344:651-657(2006) [PubMed] [Europe PMC] [Abstract]
    Category: Interaction.
    Annotation: These observations decisively prove that Rab27a inhibits ENaC function through a complex mechanism that involves GTP/GDP status and protein-protein interactions involving Munc13-4 and SLP-5 effector proteins.
    Source: GeneRIF:6340.

    This publication is mapped to 13 other entries.

  18. 18
    "14-3-3 Mediates phosphorylation-dependent inhibition of the interaction between the ubiquitin E3 ligase Nedd4-2 and epithelial Na+ channels."
    Nagaki K., Yamamura H., Shimada S., Saito T., Hisanaga S., Taoka M., Isobe T., Ichimura T.
    Biochemistry 45:6733-6740(2006) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: 14-3-3 inhibits the interaction between the WW domains of hNedd4-2 and the PY motif of the epithelial Na(+) channel ENaC.
    Source: GeneRIF:6340.

    This publication is mapped to 14 other entries.

  19. 19
    "Epithelial Na+ channels are fully activated by furin- and prostasin-dependent release of an inhibitory peptide from the gamma-subunit."
    Bruns J.B., Carattino M.D., Sheng S., Maarouf A.B., Weisz O.A., Pilewski J.M., Hughey R.P., Kleyman T.R.
    J Biol Chem 282:6153-6160(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: A synthetic peptide corresponding to the fragment cleaved from the gamma subunit is a reversible inhibitor of endogenous ENaCs in cells; results suggest that multiple proteases cleave ENaC gamma subunits to fully activate the channel.
    Source: GeneRIF:6340.

    This publication is mapped to 22 other entries.

  20. 20
    "Butyrate induces intestinal sodium absorption via Sp3-mediated transcriptional up-regulation of epithelial sodium channels."
    Zeissig S., Fromm A., Mankertz J., Weiske J., Zeitz M., Fromm M., Schulzke J.D.
    Gastroenterology 132:236-248(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Concerted action of short chain fatty acids and corticosteroid hormones is required for induction of ENaC and maintenance of intestinal electrogenic sodium absorption.
    Source: GeneRIF:6340.

    This publication is mapped to 18 other entries.

  21. 21
    "Epithelial sodium channel (ENaC) is multi-ubiquitinated at the cell surface."
    Wiemuth D., Ke Y., Rohlfs M., McDonald F.J.
    Biochem J 405:147-155(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Results support a model whereby ubiquitin and clathrin adaptor binding sites act in concert to remove ENaC from the cell surface.
    Source: GeneRIF:6340.

    This publication is mapped to 15 other entries.

  22. 22
    "CFTR stabilizes ENaC at the plasma membrane."
    Lu C., Jiang C., Pribanic S., Rotin D.
    J. Cyst. Fibros. 6:419-422(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Subcellular Location.
    Annotation: This study found that co-expressed cystic fibrosis transmembrane conductance regulator (CFTR) stabilizes epithelial sodium channel(ENaC) at the plasma membrane suggesting that CFTR regulates ENaC stability not just opening.
    Source: GeneRIF:6340.

    This publication is mapped to 77 other entries.

  23. 23
    "Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs."
    Vormfelde S.V., Sehrt D., Toliat M.R., Schirmer M., Meineke I., Tzvetkov M., Nurnberg P., Brockmoller J.
    Clin Pharmacol Ther 82:300-309(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator).
    Source: GeneRIF:6340.

    This publication is mapped to 27 other entries.

  24. 24
    "ENaCbeta and gamma genes as modifier genes in cystic fibrosis."
    Viel M., Leroy C., Hubert D., Fajac I., Bienvenu T.
    J Cyst Fibros 7:23-29(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Not Associated with OTHER: cystic fibrosis. [GAD:153271]. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator); genetic variants in ENaCgamma (epithelial sodium channel gamma) genes do not modulate disease severity in the majority of CF patients. [GeneRIF:6340].
    Source: GAD:153271, GeneRIF:6340.

    This publication is mapped to 77 other entries.

  25. 25
    "Selective genotyping reveals association between the epithelial sodium channel gamma-subunit and systolic blood pressure."
    Busst C.J., Scurrah K.J., Ellis J.A., Harrap S.B.
    Hypertension 50:672-678(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator); Relatively common polymorphisms in the SCNN1G gene are associated with high systolic blood pressure in the general Australian white population.
    Source: GeneRIF:6340.

    This publication is mapped to 6 other entries.

1 to 25 of 76  Show
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