Search Results - "SIMON, D. B"

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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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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Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK by SIMON, D. B, KARET, F. E, RODRIGUEZ-SORIANO, J, HAMDAN, J. H, DIPIETRO, A, TRACHTMAN, H, SANJAD, S. A, LIFTON, R. P

“…Mutations in the Na-K-2Cl cotransporter (NKCC2), a mediator of renal salt reabsorption, cause Bartter's syndrome, featuring salt wasting, hypokalaemic…”
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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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Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter by SIMON, D. B, NELSON-WILLIAMS, C, GAINZA, F. J, GITELMAN, H. J, LIFTON, R. P, BIA, M. J, ELLISON, D, KARET, F. E, MOLINA, A. M, VAARA, I, IWATA, F, CUSHNER, H. M, KOOLEN, M

“…Maintenance of fluid and electrolyte homeostasis is critical for normal neuromuscular function. Bartter's syndrome is an autosomal recessive disease…”
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The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes by Simon, D B, Lifton, R P

“…Hypokalemic alkalosis with low blood pressure can be caused by a number of medications or alternatively as an autosomal recessive genetic trait. Molecular…”
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The role of Cas8 in type I CRISPR interference by Cass, Simon D B, Haas, Karina A, Stoll, Britta, Alkhnbashi, Omer S, Sharma, Kundan, Urlaub, Henning, Backofen, Rolf, Marchfelder, Anita, Bolt, Edward L

“…CRISPR (clustered regularly interspaced short palindromic repeat) systems provide bacteria and archaea with adaptive immunity to repel invasive genetic…”
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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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Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2 by Simon, D B, Karet, F E, Hamdan, J M, DiPietro, A, Sanjad, S A, Lifton, R P

“…Inherited hypokalaemic alkalosis with low blood pressure can be divided into two groups-Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and…”
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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 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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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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Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21 by Mansfield, T A, Simon, D B, Farfel, Z, Bia, M, Tucci, J R, Lebel, M, Gutkin, M, Vialettes, B, Christofilis, M A, Kauppinen-Makelin, R, Mayan, H, Risch, N, Lifton, R P

“…Essential hypertension is a common multifactorial trait. The molecular basis of a number of rare diseases that after blood pressure in humans has been…”
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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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The Effect of Dofetilide on Ventricular Defibrillation Thresholds by SIMON, RON D. B., STURDIVANT, J. LACY, LEMAN, ROBERT B., WHARTON, J. MARCUS, GOLD, MICHAEL R.

“…Introduction: High defibrillation threshold (DFT) with an inadequate defibrillation safety margin remains an infrequent but troubling problem associated with…”
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An Early Community-Based Intervention for the Prevention of Substance Abuse and Other Delinquent Behavior by Hanlon, Thomas E, Bateman, Richard W, Simon, Betsy D, O'Grady, Kevin E, Carswell, Steven B

“…Evaluated an early intervention, risk-reduction strategy in comparison with a standard intervention approach in the treatment of inner-city youth at risk of…”
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Symptomatic osseous sarcoidosis with findings on bone scan by Silver, H M, Shirkhoda, A, Simon, D B

“…Twenty-one years after the onset of sarcoidosis, a 51-year-old woman experienced pain in the lower portion of her back, which proved to be the result of…”
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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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A Randomized Prospective Study of Single Coil Versus Dual Coil Defibrillation in Patients with Ventricular Arrhythmias Undergoing Implantable Cardioverter Defibrillator Therapy by RINALDI, C. ALDO, SIMON, RON D.B., GEELEN, PETER, REEK, SVEN, BASZKO, ARTUR, KUEHL, MARTIN, GILL, JASWINDER S.

“…ICD implantation is standard therapy for malignant ventricular arrhythmias. The advantage of dual and single coil defibrillator leads in the successful…”
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Clinical spectrum of fascial inflammation by Simon, D B, Ringel, S P, Sufit, R L

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