Article
Human hypertension caused by mutations in WNK kinases.
Science (New York, N.Y.) - 10 Aug 2001
Wilson F H, Disse-Nicodème S, Choate K A, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford D V, Lipkin G W, Achard J M, Feely M P, Dussol B, Berland Y, Unwin R J, Mayan H, Simon D B, Farfel Z, Jeunemaitre X, Lifton R P
Abstract excerpt
Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion. Both genes encode members of the WNK family of serine-threonine kinases. Disease-causing mutations in WNK1 are large intronic deletions that increase WNK1...
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