Search Results - "Jeck, Nikola"

Safety and efficacy of sucroferric oxyhydroxide in pediatric patients with chronic kidney disease by Greenbaum, Larry A., Jeck, Nikola, Klaus, Günter, Fila, Marc, Stoica, Cristina, Fathallah-Shaykh, Sahar, Paredes, Ana, Wickman, Larysa, Nelson, Raoul, Swinford, Rita D., Abitbol, Carolyn Larkins, Balgradean, Mihaela, Jankauskiene, Augustina, Perrin, Amandine, Enoiu, Milica, Ahn, Sun-Young

“…Background Pediatric patients with advanced chronic kidney disease (CKD) are often prescribed oral phosphate binders (PBs) for the management of…”
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Salt handling in the distal nephron: lessons learned from inherited human disorders by Jeck, Nikola, Schlingmann, Karl P, Reinalter, Stephan C, Kömhoff, Martin, Peters, Melanie, Waldegger, Siegfried, Seyberth, Hannsjörg W

“…The molecular basis of inherited salt-losing tubular disorders with secondary hypokalemia has become much clearer in the past two decades. Two distinct…”
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Late-onset manifestation of antenatal bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter by PRESSLER, Carsten A, HEINZINGER, Jolanta, JECK, Nikola, WALDEGGER, Petra, PECHMANN, Ulla, REINALTER, Stephan, KONRAD, Martin, BEETZ, Rolf, SEYBERTH, Hannsjörg W, WALDEGGER, Siegfried

“…Genetic defects of the Na+-K+-2Cl- (NKCC2) sodium potassium chloride co-transporter result in severe, prenatal-onset renal salt wasting accompanied by…”
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Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome by KONRAD, M, VOLLMER, M, GUAY-WOODFORD, L, KNOERS, N. V. A. M, SEYBERTH, H. W, FELDMANN, D, HILDEBRANDT, F, LEMMINK, H. H, VAN DEN HEUVEL, L. P. W. J, JECK, N, VARGAS-POUSSOU, R, LAKINGS, A, RUF, R, DESCHENES, G, ANTIGNAC, C

“…Inherited hypokalemic renal tubulopathies are differentiated into at least three clinical subtypes: (1) the Gitelman variant of Bartter syndrome (GS); (2)…”
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Deletion of exons 2–4 in the BSND gene causes severe antenatal Bartter syndrome by Bircan, Zelal, Harputluoglu, Filiz, Jeck, Nikola

“…BSND gene mutations usually cause severe forms of antenatal Bartter syndrome and sensorineural deafness (SND). Chronic renal failure and transient…”
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A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity by Jeck, Nikola, Waldegger, Petra, Doroszewicz, Jolanta, Seyberth, Hannsjörg, Waldegger, Siegfried

“…A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity. Tubular transepithelial reabsorption of chloride along the…”
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Cyclooxygenase-2 expression is associated with the renal macula densa of patients with Bartter-like syndrome by Kömhoff, Martin, Jeck, Nikola D.M., Seyberth, Hannsjörg W., Gröne, Hermann J., Nüsing, Rolf M., Breyer, Matthew D.

“…Cyclooxygenase-2 expression is associated with the renal macula densa of patients with Bartter-like syndrome. Bartter-like syndrome (BLS) is a heterogeneous…”
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Mutations in the chloride channel gene, CLCNKB, leading to a mixed bartter-gitelman phenotype by JECK, Nikola, KONRAD, Martin, PETERS, Melanie, WEBER, Stefanie, BONZEL, Klaus E, SEYBERTH, Hannsjörg W

“…Gitelman syndrome is an inherited renal disorder characterized by impaired NaCl reabsorption in the distal convoluted tubule and secondary hypokalemic…”
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Salt wasting and deafness resulting from mutations in two chloride channels by SCHLINGMANN, Karl P, KONRAD, Martin, JECK, Nikola, WALDEGGER, Petra, REINALTER, Stephan C, HOLDER, Martin, SEYBERTH, Hannsjörg W, WALDEGGER, Siegfried

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Activating Mutation of the Renal Epithelial Chloride Channel ClC-Kb Predisposing to Hypertension by Jeck, Nikola, Waldegger, Siegfried, Lampert, Angelika, Boehmer, Christoph, Waldegger, Petra, Lang, Philipp A, Wissinger, Bernd, Friedrich, Björn, Risler, Teut, Moehle, Robert, Lang, Undine E, Zill, Peter, Bondy, Brigitta, Schaeffeler, Elke, Asante-Poku, Stephen, Seyberth, Hannsjörg, Schwab, Matthias, Lang, Florian

“…The chloride channel ClC-Kb is expressed in the basolateral cell membrane of the distal nephron and participates in renal NaCl reabsorption. Loss-of-function…”
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A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies by Coto, Eliecer, Rodriguez, Julian, Jeck, Nikola, Alvarez, Victoria, Stone, Rosario, Loris, Cesar, Rodriguez, Luis M., Fischbach, Michel, Seyberth, Hannsjörg W., Santos, Fernando

“…A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Gitel syndrome is an inherited tubular disorder characterized…”
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Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome by Jeck, Nikola, Derst, Christian, Wischmeyer, Erhard, Ott, Henning, Weber, Stefanie, Rudin, Christoph, Seyberth, Hannsjörg W., Daut, Jürgen, Karschin, Andreas, Konrad, Martin

“…Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. The renal K+ channel ROMK (Kir1.1) controls salt reabsorption in the…”
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Response: ClC-Kb Mutation Revisited by Jeck, Nikola, Waldegger, Siegfried, Wissinger, Bernd, Schwab, Matthias, Lang, Florian

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Strict Blood-Pressure Control and Progression of Renal Failure in Children by Wühl, Elke, Trivelli, Antonella, Picca, Stefano, Litwin, Mieczyslaw, Peco-Antic, Amira, Zurowska, Aleksandra, Testa, Sara, Jankauskiene, Augustina, Emre, Sevinc, Caldas-Afonso, Alberto, Anarat, Ali, Niaudet, Patrick, Mir, Sevgi, Bakkaloglu, Aysin, Enke, Barbara, Montini, Giovanni, Wingen, Ann-Margret, Sallay, Peter, Jeck, Nikola, Berg, Ulla, Caliskan, Salim, Wygoda, Simone, Hohbach-Hohenfellner, Katharina, Dusek, Jiri, Urasinski, Tomasz, Arbeiter, Klaus, Neuhaus, Thomas, Gellermann, Jutta, Drozdz, Dorota, Fischbach, Michel, Möller, Kristina, Wigger, Marianne, Peruzzi, Licia, Mehls, Otto, Schaefer, Franz

“…This study assessed the long-term renoprotective effect of intensified blood-pressure control among children receiving a fixed high dose of an…”
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A Hyperprostaglandin E Syndrome Mutation in Kir1.1 (Renal Outer Medullary Potassium) Channels Reveals a Crucial Residue for Channel Function in Kir1.3 Channels by Derst, Christian, Wischmeyer, Erhard, Preisig-Müller, Regina, Spauschus, Alexander, Konrad, Martin, Hensen, Peter, Jeck, Nikola, Seyberth, Hannsjörg W., Daut, Jürgen, Karschin, Andreas

“…Loss of function mutations in kidney Kir1.1 (renal outer medullary potassium channel, KCNJ1) inwardly rectifying potassium channels can be found in patients…”
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Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies by Gee, Heon Yung, Otto, Edgar A, Hurd, Toby W, Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A, Fang, Humphrey, Kohl, Stefan, Allen, Susan J, Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L, Weber, Stefanie, Vester, Udo, Davis, Erica E, Katsanis, Nicholas, Fathy, Hanan M, Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A, Al Attrach, Ibrahim, Al Hassoun, Ibrahim, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F, Attanasio, Massimo, Lewis, Richard A, Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W, Levy, Shawn, Hildebrandt, Friedhelm

“…Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive…”
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CNDP1 genotype and renal survival in pediatric nephropathies by Peters, Verena, Kebbewar, Moustafa, Janssen, Bart, Hoffmann, Georg F, Möller, Kristina, Wygoda, Simone, Charbit, Marina, Fernandes-Teixeira, Ana, Jeck, Nikola, Zschocke, Johannes, Schmitt, Claus Peter, Schäfer, Franz, Wühl, Elke

“…The risk of developing type II diabetic nephropathy (DN) is lower in patients carrying the CNDP1 Mannheim polymorphism (homozygosity for the five leucine…”
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Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies by Peters, Melanie, Jeck, Nikola, Reinalter, Stephan, Leonhardt, Andreas, Tönshoff, Burkhard, Klaus G, G ünter, Konrad, Martin, Seyberth, Hannsjörg W

“…Hypokalemic salt-losing tubulopathies (Bartter-like syndromes) comprise a set of clinically and genetically distinct inherited renal disorders. Mutations in…”
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Barttin increases surface expression and changes current properties of ClC-K channels by Waldegger, Siegfried, Jeck, Nikola, Barth, Petra, Peters, Melanie, Vitzthum, Helga, Wolf, Konrad, Kurtz, Armin, Konrad, Martin, Seyberth, Hannsjörg W

“…The term Bartter syndrome encompasses a heterogeneous group of autosomal recessive salt-losing nephropathies that are caused by disturbed transepithelial…”
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Reduced systolic myocardial function in children with chronic renal insufficiency by CHINALI, Marcello, DE SIMONE, Giovanni, PERUZZI, Licia, TESTA, Sara, MEHLS, Otto, WÜHL, Elke, SCHAEFER, Franz, CHIARA MATTEUCCI, Maria, PICCA, Stefano, MASTROSTEFANO, Antonio, ANARAT, Ali, CALISKAN, Salim, JECK, Nikola, NEUHAUS, Thomas J, PECO-ANTIC, Amira

“…Increased left ventricular (LV) mass in children with chronic renal insufficiency (CRI) might be adaptive to sustain myocardial performance in the presence of…”
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