Search Results - "KARET, F. E"

Impedance-based sensor for potassium ions by Day, C., Søpstad, S., Ma, H., Jiang, C., Nathan, A., Elliott, S.R., Karet Frankl, F.E., Hutter, T.

“…A conductometric sensor for potassium ions in solution is presented. Interdigitated, planar gold electrodes were coated with a potassium-selective polymer…”
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Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism by Semple, R. K., Achermann, J. C., Ellery, J., Farooqi, I. S., Karet, F. E., Stanhope, R. G., O’Rahilly, S., Aparicio, S. A.

“…It has recently been shown that loss-of-function mutations of the G protein-coupled receptor (GPR)54 lead to isolated hypogonadotropic hypogonadism (IHH) in…”
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High water vs. ad libitum water intake for autosomal dominant polycystic kidney disease: a randomized controlled feasibility trial by El-Damanawi, R, Lee, M, Harris, T, Cowley, L B, Bond, S, Pavey, H, Sandford, R N, Wilkinson, I B, Karet Frankl, F E, Hiemstra, T F

“…Abstract Background Vasopressin stimulates cyst growth in autosomal dominant polycystic kidney disease (ADPKD) and is a key therapeutic target. Evaluation of…”
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Urinary extracellular vesicles as a source of protein‐based biomarkers in feline chronic kidney disease and hypertension by Lawson, J. S., Syme, H. M., Antrobus, P. R., Karttunen, J. M., Stewart, S. E., Karet Frankl, F. E., Williams, T. L.

“…Objectives To validate a methodology for isolating feline urinary extracellular vesicles and characterise the urinary extracellular vesicle population and…”
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Mutations in the Chloride-Bicarbonate Exchanger Gene AE1 Cause Autosomal Dominant but not Autosomal Recessive Distal Renal Tubular Acidosis by Karet, F. E., Gainza, F. J., Gyory, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., Di Pietro, A., Walker, W. G., Lifton, R. P.

“…Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis,…”
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A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis by Borthwick, K J, Kandemir, N, Topaloglu, R, Kornak, U, Bakkaloglu, A, Yordam, N, Ozen, S, Mocan, H, Shah, G N, Sly, W S, Karet, F E

“…The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as…”
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Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss by Stover, E H, Borthwick, K J, Bavalia, C, Eady, N, Fritz, D M, Rungroj, N, Giersch, A B S, Morton, C C, Axon, P R, Akil, I, Al-Sabban, E A, Baguley, D M, Bianca, S, Bakkaloglu, A, Bircan, Z, Chauveau, D, Clermont, M-J, Guala, A, Hulton, S A, Kroes, H, Li Volti, G, Mir, S, Mocan, H, Nayir, A, Ozen, S, Rodriguez Soriano, J, Sanjad, S A, Tasic, V, Taylor, C M, Topaloglu, R, Smith, A N, Karet, F E

“…Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased…”
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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 gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness by Lifton, Richard P, Karet, Fiona E, Finberg, Karin E, Nelson, Raoul D, Nayir, Ahmet, Mocan, Hilal, Sanjad, Sami A, Rodriguez-Soriano, Juan, Santos, Fernando, Cremers, Cor W.R.J, Pietro, Antonio Di, Hoffbrand, Barry I, Winiarski, Jacek, Bakkaloglu, Aysin, Ozen, Seza, Dusunsel, Ruhan, Goodyer, Paul, Hulton, Sally A, Wu, Doris K, Skvorak, Anne B, Morton, Cynthia C, Cunningham, Michael J, Jha, Vivekanand

“…H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We…”
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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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Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34 by Karet, Fiona E., Finberg, Karin E., Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A., Sanjad, Sami A., Al-Sabban, Essam A., Medina, Juan F., Lifton, Richard P.

“…Failure of distal nephrons to excrete excess acid results in the “distal renal tubular acidoses” (dRTA). Early childhood features of autosomal recessive dRTA…”
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Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements by Berry, Miriam R, Robinson, Caroline, Karet Frankl, Fiona E

“…Gitelman syndrome (GS) is a rare inherited disorder caused by mutations in SLC12A3, encoding the thiazide-sensitive transporter NCCT (sodium chloride…”
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Localization of endothelin peptides in human kidney by Karet, Fiona E., Davenport, Anthony P.

“…Localization of endothelin peptides in human kidney. We investigated the synthesis and localization of endothelin isoforms in the human kidney using the…”
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High water vs. ad libitum water intake for autosomal dominant polycystic kidney disease: a randomized controlled feasibility trial by El-Damanawi, R, Lee, M, Harris, T, Cowley, L B, Bond, S, Pavey, H, Sandford, R N, Wilkinson, I B, Karet Frankl, F E, Hiemstra, T F

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An endothelin-1 mediated autocrine growth loop involved in human renal tubular regeneration by Ong, Albert C.M., Jowett, Terence P., Firth, John D., Burton, Stephen, Karet, Fiona E., Fine, Leon G.

“…An endothelin-1 mediated autocrine growth loop involved in human renal tubular regeneration. Renal tubules have the capacity to regenerate following injury. We…”
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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome by Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A

“…ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular…”
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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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Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing by Karet, Fiona E, Smith, Annabel N, Skaug, Jennifer, Choate, Keith A, Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A, Sanjad, Sami A, Al-Sabban, Essam A, Lifton, Richard P, Scherer, Stephen W

“…The multi-subunit H+-ATPase pump is present at particularly high density on the apical (luminal) surface of α-intercalated cells of the cortical collecting…”
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Lipoprotein glomerulopathy: a new role for apolipoprotein E? by Karet, F E, Lifton, R P

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Replacing the short ammonium chloride test by Viljoen, A., Norden, A.G.W., Karet, F.E.

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