An Extended Nomenclature for Mammalian V-ATPase Subunit Genes and Splice Variants

por Miranda, Kevin C., Karet, Fiona E., Brown, Dennis
Publicado 2010

Life-threatening metabolic alkalosis in Pendred syndrome

por Kandasamy, Narayanan, Fugazzola, Laura, Evans, Mark, Chatterjee, Krishna, Karet, Fiona
Publicado 2011

The d subunit plays a central role in human vacuolar H(+)-ATPases

por Smith, Annabel N., Francis, Richard W., Sorrell, Sara L., Karet, Fiona E.
Publicado 2008

Importance of early audiologic assessment in distal renal tubular acidosis

por Swayamprakasam, Anand P, Stover, Elizabeth, Norgett, Elizabeth, Blake-Palmer, Katherine G, Cunningham, Michael J, Karet, Fiona E
Publicado 2010

RhCG is the major putative ammonia transporter expressed in the human kidney, and RhBG is not expressed at detectable levels

por Brown, Alice C. N., Hallouane, Dalila, Mawby, William J., Karet, Fiona E., Saleem, Moin A., Howie, Alexander J., Toye, Ashley M.
Publicado 2009

Human H(+)ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1

por Su, Ya, Blake-Palmer, Katherine G., Sorrell, Sara, Javid, Babak, Bowers, Katherine, Zhou, Aiwu, Chang, Simon H., Qamar, Seema, Karet, Fiona E.
Publicado 2008

Glyceraldehyde 3-phosphate dehydrogenase is required for band 3 (anion exchanger 1) membrane residency in the mammalian kidney

por Su, Ya, Blake-Palmer, Katherine G., Fry, Andrew C., Best, Alison, Brown, Alice C. N., Hiemstra, Thomas F., Horita, Shoko, Zhou, Aiwu, Toye, Ashley M., Karet, Fiona E.
Publicado 2011

SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause

por Zhou, Junhua, Cabrera, Claudia P, Azizan, Elena A B, Fernandes-Rosa, Fabio, Cottrell, Emily, Amar, Laurence, Argentesi, Giulia, Wu, Xilin, Marker, Alison, Jordan, Suzanne, Polubothu, Satyamaanasa, Berney, Daniel M, Tuthill, Antoinette, Karet, Fiona E, Metherell, Louise, Teo, Ada, Thakker, Rajesh V, Drake, William, Boulkroun, Sheerazed, Kinsler, Veronica, Storr, Helen Louise, Zennaro, Maria-Christina, Brown, Morris Jonathan
Publicado 2020

Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities

por 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.
Publicado 2012