SCNN1Aとは - わかりやすく解説 Weblio辞書

ウィキペディア

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SCNN1A

出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2021/05/03 07:54 UTC 版)

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出典

^ ^a ^b ^c ^d ^e “Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases”. Gene 579 (2): 95–132. (April 2016). doi:10.1016/j.gene.2015.12.061. PMC: 4756657. PMID 26772908.
^ “Central mechanisms of osmosensation and systemic osmoregulation”. Nature Reviews. Neuroscience 9 (7): 519–31. (July 2008). doi:10.1038/nrn2400. PMID 18509340.
^ ^a ^b “Epithelial sodium transport and its control by aldosterone: the story of our internal environment revisited”. Physiological Reviews 95 (1): 297–340. (January 2015). doi:10.1152/physrev.00011.2014. PMID 25540145.
^ “Expression cloning of an epithelial amiloride-sensitive Na+ channel. A new channel type with homologies to Caenorhabditis elegans degenerins”. FEBS Letters 318 (1): 95–9. (February 1993). doi:10.1016/0014-5793(93)81336-x. PMID 8382172.
^ “Epithelial sodium channel related to proteins involved in neurodegeneration”. Nature 361 (6411): 467–70. (February 1993). doi:10.1038/361467a0. PMID 8381523.
^ “SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12”. Genomics 24 (1): 185–6. (November 1994). doi:10.1006/geno.1994.1599. PMID 7896277.
^ ^a ^b “Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel”. Human Genetics 102 (5): 576–81. (May 1998). doi:10.1007/s004390050743. PMID 9654208.
^ “Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit”. Biochemical and Biophysical Research Communications 252 (1): 208–13. (November 1998). doi:10.1006/bbrc.1998.9625. PMID 9813171.
^ “Gene: SCNN1A (ENSG00000111319) - Gene tree - Homo_sapiens - Ensembl genome browser 103”. asia.ensembl.org. 2021年5月2日閲覧。
^ “5' heterogeneity in epithelial sodium channel alpha-subunit mRNA leads to distinct NH2-terminal variant proteins”. The American Journal of Physiology 274 (5 Pt 1): C1312–23. (May 1998). doi:10.1152/ajpcell.1998.274.5.C1312. PMID 9612219.
^ “Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene”. Pediatric Research 46 (2): 208–14. (August 1999). doi:10.1203/00006450-199908000-00014. PMID 10447117.
^ “Cloning and functional studies of splice variants of the alpha-subunit of the amiloride-sensitive Na+ channel”. The American Journal of Physiology 274 (4 Pt 1): C1081–9. (April 1998). doi:10.1152/ajpcell.1998.274.4.C1081. PMID 9575806.
^ “A long isoform of the epithelial sodium channel alpha subunit forms a highly active channel”. Channels 9 (1): 30–43. (2015). doi:10.4161/19336950.2014.985478. PMC: 4594420. PMID 25517724.
^ ^a ^b ^c “Cell-specific expression of epithelial sodium channel alpha, beta, and gamma subunits in aldosterone-responsive epithelia from the rat: localization by in situ hybridization and immunocytochemistry”. The Journal of Cell Biology 127 (6 Pt 2): 1907–21. (December 1994). doi:10.1083/jcb.127.6.1907. PMC: 2120291. PMID 7806569.
^ ^a ^b “Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways”. Histochemistry and Cell Biology 137 (3): 339–53. (March 2012). doi:10.1007/s00418-011-0904-1. PMID 22207244.
^ “Localization of epithelial sodium channel (ENaC) and CFTR in the germinal epithelium of the testis, Sertoli cells, and spermatozoa”. J. Mol. Histol. 49 (2): 195–208. (April 2018). doi:10.1007/s10735-018-9759-2. PMID 29453757.
^ ^a ^b “Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages”. Histochemistry and Cell Biology 147 (6): 733–748. (January 2017). doi:10.1007/s00418-016-1535-3. PMID 28130590. https://zenodo.org/record/890756.
^ “The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene”. Molecular Endocrinology 15 (4): 575–88. (April 2001). doi:10.1210/me.15.4.575. PMID 11266509.
^ “Regulation and dysregulation of epithelial Na+ channels”. Clinical and Experimental Nephrology 16 (1): 35–43. (February 2012). doi:10.1007/s10157-011-0496-z. PMID 22038262.
^ “Mechanisms underlying rapid aldosterone effects in the kidney”. Annual Review of Physiology 73: 335–57. (2011). doi:10.1146/annurev-physiol-012110-142222. PMID 20809792.
^ “Membrane topology of the epithelial sodium channel in intact cells”. The American Journal of Physiology 267 (6 Pt 1): C1682–90. (December 1994). doi:10.1152/ajpcell.1994.267.6.C1682. PMID 7810611.
^ ^a ^b “Structure of acid-sensing ion channel 1 at 1.9 A resolution and low pH”. Nature 449 (7160): 316–23. (September 2007). doi:10.1038/nature06163. PMID 17882215.
^ “X-ray structure of acid-sensing ion channel 1-snake toxin complex reveals open state of a Na(+)-selective channel”. Cell 156 (4): 717–29. (February 2014). doi:10.1016/j.cell.2014.01.011. PMC: 4190031. PMID 24507937.
^ “Identification of the roles of conserved charged residues in the extracellular domain of an epithelial sodium channel (ENaC) subunit by alanine mutagenesis”. American Journal of Physiology. Renal Physiology 300 (4): F887–97. (April 2011). doi:10.1152/ajprenal.00648.2010. PMID 21209000.
^ “Conserved charged residues at the surface and interface of epithelial sodium channel subunits--roles in cell surface expression and the sodium self-inhibition response”. The FEBS Journal 281 (8): 2097–111. (April 2014). doi:10.1111/febs.12765. PMID 24571549.
^ “ASIC and ENaC type sodium channels: conformational states and the structures of the ion selectivity filters”. The FEBS Journal 284 (4): 525–545. (February 2017). doi:10.1111/febs.13840. PMID 27580245. https://zenodo.org/record/890906.
^ Noreng, Sigrid; Bharadwaj, Arpita; Posert, Richard; Yoshioka, Craig; Baconguis, Isabelle (2018-09-25). “Structure of the human epithelial sodium channel by cryo-electron microscopy”. eLife 7. doi:10.7554/eLife.39340. ISSN 2050-084X. PMC: 6197857. PMID 30251954.
^ “Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects”. The Journal of Clinical Endocrinology and Metabolism 73 (5): 936–44. (November 1991). doi:10.1210/jcem-73-5-936. PMID 1939532. https://zenodo.org/record/890914.
^ “Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping”. Human Molecular Genetics 5 (2): 293–9. (February 1996). doi:10.1093/hmg/5.2.293. PMID 8824886.
^ “Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1”. Nature Genetics 12 (3): 248–53. (March 1996). doi:10.1038/ng0396-248. PMID 8589714.
^ “A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families”. Nature Genetics 13 (2): 248–50. (June 1996). doi:10.1038/ng0696-248. PMID 8640238.
^ “Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes”. Journal of Clinical Endocrinology and Metabolism 87 (7): 3344–3350. (Jul 2002). doi:10.1210/jcem.87.7.8674. PMID 12107247.
^ “Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism”. Clinical Endocrinology 62 (5): 547–53. (May 2005). doi:10.1111/j.1365-2265.2005.02255.x. PMID 15853823.
^ “Aldosterone resistance: structural and functional considerations and new perspectives”. Molecular and Cellular Endocrinology 350 (2): 206–15. (March 2012). doi:10.1016/j.mce.2011.04.023. PMID 21664233.
^ “Expression of the epithelial sodium channel (ENaC) in the endometrium - Implications for fertility in a patient with pseudohypoaldosteronism”. The Journal of Steroid Biochemistry and Molecular Biology 183: 137–141. (October 2018). doi:10.1016/j.jsbmb.2018.06.007. PMID 29885352.
^ ^a ^b “The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel”. The Journal of Biological Chemistry 276 (11): 8597–601. (March 2001). doi:10.1074/jbc.C000906200. PMID 11244092.
^ “Identification of new partners of the epithelial sodium channel alpha subunit”. Comptes Rendus Biologies 326 (7): 615–24. (July 2003). doi:10.1016/s1631-0691(03)00154-9. PMID 14556380.
^ “Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits”. The Biochemical Journal 345 Pt 3 (3): 503–9. (February 2000). doi:10.1042/0264-6021:3450503. PMC: 1220784. PMID 10642508.
^ “Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel”. American Journal of Physiology. Renal Physiology 283 (3): F431–6. (September 2002). doi:10.1152/ajprenal.00080.2002. PMID 12167593.
^ “Vasopressin-inducible ubiquitin-specific protease 10 increases ENaC cell surface expression by deubiquitylating and stabilizing sorting nexin 3”. American Journal of Physiology. Renal Physiology 295 (4): F889–900. (October 2008). doi:10.1152/ajprenal.00001.2008. PMID 18632802.
^ “Nedd4-2 isoforms ubiquitinate individual epithelial sodium channel subunits and reduce surface expression and function of the epithelial sodium channel”. American Journal of Physiology. Renal Physiology 294 (5): F1157–65. (May 2008). doi:10.1152/ajprenal.00339.2007. PMC: 2424110. PMID 18322022.

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