Search Results - "Simon, David B."

Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans by Cruz, Dinna N, Simon, David B, Nelson-Williams, Carol, Farhi, Anita, Finberg, Karin, Burleson, Laura, Gill, John R, Lifton, Richard P

“…The relationship between salt homeostasis and blood pressure has remained difficult to establish from epidemiological studies of the general population…”
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Rare independent mutations in renal salt handling genes contribute to blood pressure variation by Larson, Martin G, Ji, Weizhen, Newton-Cheh, Christopher, O'Roak, Brian J, Foo, Jia Nee, Simon, David B, Zhao, Hongyu, Levy, Daniel, Lifton, Richard P, State, Matthew W

“…The effects of alleles in many genes are believed to contribute to common complex diseases such as hypertension. Whether risk alleles comprise a small number…”
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Human Hypertension Caused by Mutations in WNK Kinases by Wilson, Frederick H., Disse-Nicodème, Sandra, Choate, Keith A., Ishikawa, Kazuhiko, Nelson-Williams, Carol, Desitter, Isabelle, Gunel, Murat, Milford, David V., Lipkin, Graham W., Achard, Jean-Michel, Feely, Morgan P., Dussol, Bertrand, Berland, Yvon, Unwin, Robert J., Mayan, Haim, Simon, David B., Farfel, Zvi, Jeunemaitre, Xavier, Lifton, Richard P.

“…Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait…”
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Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption by SIMON, D. B, YIN LU, MCCREDIE, D, MILFORD, D, SANJAD, S, LIFTON, R. P, CHOATE, K. A, VELAZQUEZ, H, AL-SABBAN, E, PRAGA, M, CASARI, G, BETTINELLI, A, COLUSSI, G, RODRIGUEZ-SORIANO, J

“…Epithelia permit selective and regulated flux from apical to basolateral surfaces by transcellular passage through cells or paracellular flux between cells…”
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Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2CI cotransporter NKCC2 by Simon, David B, Karet, Fiona E, Hamdan, Jahed M, Pietro, Antonio Di, Sanjad, Sami A, Lifton, Richard P

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Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21 by Mansfield, Traci A, Simon, David B, Farfel, Zvi, Bia, Margaret, Tucci, Joseph R, Lebe, Marcel, Gutkin, Michael, Vialettes, Bernard, Christofilis, Marie A, Kauppinen-Makelin, Ritva, Mayan, Haim, Risch, Neil, Lifton, Richard P

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Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life by Cruz, Dinna N., Shaer, Andrea J., Bia, Margaret J., Lifton, Richard P., Simon, David B.

“…Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life. Gitelman's syndrome (GS), also called Gitelman's variant of…”
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Bartter syndrome and focal segmental glomerulosclerosis : a possible link between two diseases by SU, I. H, FRANK, R, GAUTHIER, B. G, VALDERRAMA, E, SIMON, D. B, LIFTON, R. P, TRACHTMAN, H

“…We describe a patient with signs and symptoms of classic Bartter syndrome. The patient tested negative for all known genetic abnormalities associated with this…”
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Mutations in the chloride channel gene, CLCNKB , cause Bartter's syndrome type III by Stone, Rosário, Bakkaloglu, Aysin, John, Eunice, Nayir, Ahmet, Trachtman, Howard, Alpay, Harika, Mansfield, Traci A, Simon, David B, Mendonca, Erica, Schurman, Scott, Sanjad, Sami A, Griswold, William, Nelson-Williams, Carol, Morales, Jose M, Brem, Andrew, Taylor, C. Mark, Lifton, Richard P, Richard, George A, Bindra, Ranjit S, Pilz, Daniela, Rodriguez-Soriano, Juan

“…Analysis of patients with inherited hypokalaemic alkalosis resulting from salt-wasting has proved fertile ground for identification of essential elements of…”
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Conversion from Epoetin Alfa to Darbepoetin Alfa for Management of Anaemia in a Community Chronic Kidney Disease Centre: A Retrospective Cohort Study by Gobin, Jaya, Cernii, Aura, McLean, Rosella, Finkelstein, Fredric O., Simon, David B.

“…Background: The management of anaemia in chronic kidney disease (CKD) to achieve current guideline goals is difficult and is hindered by multiple factors,…”
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Conversion from Epoetin Alfa to Darbepoetin Alfa for Management of Anaemia in a Community Chronic Kidney Disease Centre: A Retrospective Cohort Study by Gobin, Jaya, Cernii, Aura, McLean, Rosella, Finkelstein, Fredric O., Simon, David B.

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Calcimimetics for the Treatment of Secondary Hyperparathyroidism in Peritoneal Dialysis Patients by Francis, Jean, Simon, David B., Jeurgensen, Peter, Finkelstein, Fredric O.

“…Secondary hyperparathyroidism is a common complication in patients with end-stage renal disease. It has been associated with increased cardiovascular events…”
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A one-year trial of in-center daily hemodialysis with an emphasis on quality of life by Reynolds, Jeffrey T, Homel, Peter, Cantey, Lisa, Evans, Ellen, Harding, Pamela, Gotch, Frank, Wuerth, Diane, Finkelstein, Susan, Levin, Nathan, Kliger, Alan, Simon, David B, Finkelstein, Fredric O

“…Hemodialysis is associated with acute changes in several physiologic factors. Previous studies have suggested significant clinical and quality of life (QOL)…”
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Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes by Simon, David B, Lifton, Richard P

“…The successful merging of modern molecular genetics with basic renal physiology is exemplified by the recent description of the molecular basis of two classic…”
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Ion transporter mutations in Gitelmanʼs and Bartterʼs syndromes by Simon, David B, Lifton, Richard P

“…The application of modern techniques in molecular genetics to classic diseases in clinical nephrology is highlighted by the recent description of the molecular…”
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Genetic heterogeneity of Barter's syndrome revealed by mutations in the K + channel, ROMK by Simon, David B, Karet, Fiona E, Rodriguez-Soriano, Juan, Hamdan, Jahed H, DiPietro, Antonio, Trachtman, Howard, Sanjad, Sami A, Lifton, Richard P

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Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter by Karet, Fiona E, Gainza, Francisco J, Simon, David B, Iwata, Fujihiko, Cushner, Howard M, Koolen, Marianne, Nelson-Williams, Carol, Vaara, Ivar, Lifton, Richard P, Ellison, David, Johnson Bia, Margaret, Gitelman, Hillel J, Morey Molina, Antonio

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Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg$^{2+}$ Resorption by Simon, David B., Lu, Yin, Choate, Keith A., Velazquez, Heino, Al-Sabban, Essam, Praga, Manuel, Casari, Giorgio, Bettinelli, Alberto, Colussi, Giacomo, Rodriguez-Soriano, Juan, McCredie, David, Milford, David, Sanjad, Sami, Lifton, Richard P.

“…Epithelia permit selective and regulated flux from apical to basolateral surfaces by transcellular passage through cells or paracellular flux between cells…”
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Ion transporter and channel mutations in Bartter's and Gitelman's syndromes of inherited hypokalemic alkalosis by Simon, David B., Lifton, Richard P.

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Metabolic lung disease: diffuse metastatic pulmonary calcifications with progression to calciphylaxis in end-stage renal disease by Beyzaei, Arshan, Francis, Jean, Knight, Herbert, Simon, David B, Finkelstein, Frederic O

“…The goal of the present case report is to enhance recognition of the incidence of tissue calcifications, which are quite common in patients with end-stage…”
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