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WNK1-related Familial Hyperkalemic Hypertension results from an increased expression of L-WNK1 specifically in the distal nephron.
Vidal-Petiot E, Elvira-Matelot E, Mutig K, Soukaseum C, Baudrie V, Wu S, Cheval L, Huc E, Cambillau M, Bachmann S, Doucet A, Jeunemaitre X, Hadchouel J. Vidal-Petiot E, et al. Proc Natl Acad Sci U S A. 2013 Aug 27;110(35):14366-71. doi: 10.1073/pnas.1304230110. Epub 2013 Aug 12. Proc Natl Acad Sci U S A. 2013. PMID: 23940364 Free PMC article.
WNK1 kinase balances T cell adhesion versus migration in vivo.
Köchl R, Thelen F, Vanes L, Brazão TF, Fountain K, Xie J, Huang CL, Lyck R, Stein JV, Tybulewicz VL. Köchl R, et al. Nat Immunol. 2016 Sep;17(9):1075-83. doi: 10.1038/ni.3495. Epub 2016 Jul 11. Nat Immunol. 2016. PMID: 27400149 Free PMC article.
Decreased ENaC expression compensates the increased NCC activity following inactivation of the kidney-specific isoform of WNK1 and prevents hypertension.
Hadchouel J, Soukaseum C, Büsst C, Zhou XO, Baudrie V, Zürrer T, Cambillau M, Elghozi JL, Lifton RP, Loffing J, Jeunemaitre X. Hadchouel J, et al. Proc Natl Acad Sci U S A. 2010 Oct 19;107(42):18109-14. doi: 10.1073/pnas.1006128107. Epub 2010 Oct 4. Proc Natl Acad Sci U S A. 2010. PMID: 20921400 Free PMC article.