Article
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Nature - 22 Jan 2012
Boyden Lynn M, Choi Murim, Choate Keith A, Nelson-Williams Carol J, Farhi Anita, Toka Hakan R, Tikhonova Irina R, Bjornson Robert, Mane Shrikant M, Colussi Giacomo, Lebel Marcel, Gordon Richard D, Semmekrot Ben A, Poujol Alain, Välimäki Matti J, De Ferrari Maria E, Sanjad Sami A, Gutkin Michael, Karet Fiona E, Tucci Joseph R, Stockigt Jim R, Keppler-Noreuil Kim M, Porter Craig C, Anand Sudhir K, Whiteford Margo L, Davis Ira D, Dewar Stephanie B, Bettinelli Alberto, Fadrowski Jeffrey J, Belsha Craig W, Hunley Tracy E, Nelson Raoul D, Trachtman Howard, Cole Trevor R P, Pinsk Maury, Bockenhauer Detlef, Shenoy Mohan, Vaidyanathan Priya, Foreman John W, Rasoulpour Majid, Thameem Farook, Al-Shahrouri Hania Z, Radhakrishnan Jai, Gharavi Ali G, Goilav Beatrice, Lifton Richard P
Abstract excerpt
Hypertension affects one billion people and is a principal reversible risk factor for cardiovascular disease. Pseudohypoaldosteronism type II (PHAII), a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis, has revealed previously unrecognized physiology orchestrating the balance between renal salt reabsorption and K(+) and H(+) excretion. Here we used exome sequencing to identify...
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