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Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis
Louis-Dit-Picard, Hélène, Kouranti, Ilektra, Rafael, Chloé, Loisel-Ferreira, Irmine, Chavez-Canales, Maria, Abdel-Khalek, Waed, Argaiz, Eduardo R., Baron, Stéphanie, Vacle, Sarah, Migeon, Tiffany, Coleman, Richard, Do Cruzeiro, Marcio, Hureaux, Marguerite, Thurairajasingam, Nirubiah, Decramer, Stéphane, Girerd, Xavier, O’Shaugnessy, Kevin, Mulatero, Paolo, Roussey, Gwenaëlle, Tack, Ivan, Unwin, Robert, Vargas-Poussou, Rosa, Staub, Olivier, Grimm, Richard, Welling, Paul A., Gamba, Gerardo, Clauser, Eric, Hadchouel, Juliette, Jeunemaitre, Xavier
Published in The Journal of clinical investigation (01.12.2020)
Published in The Journal of clinical investigation (01.12.2020)
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WNK signalling pathways in blood pressure regulation
Murthy, Meena, Kurz, Thimo, O’Shaughnessy, Kevin M.
Published in Cellular and molecular life sciences : CMLS (01.04.2017)
Published in Cellular and molecular life sciences : CMLS (01.04.2017)
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Reducing αENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K + loading
Poulsen, Søren Brandt, Praetorius, Jeppe, Damkier, Helle H., Miller, Lance, Nelson, Raoul D., Hummler, Edith, Christensen, Birgitte Mønster
Published in American journal of physiology. Renal physiology (15.02.2016)
Published in American journal of physiology. Renal physiology (15.02.2016)
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Recurrence of the R947X Mutation in Unrelated Families with Autosomal Dominant Pseudohypoaldosteronism Type 1: Evidence for a Mutational Hot Spot in the Mineralocorticoid Receptor Gene
Fernandes-Rosa, Fabio L., de Castro, Margaret, Latronico, Ana Claudia, Sippell, Wolfgang G., Riepe, Felix G., Antonini, Sonir R.
Published in The journal of clinical endocrinology and metabolism (01.09.2006)
Published in The journal of clinical endocrinology and metabolism (01.09.2006)
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Journal Article