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Nikola Jeck

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TOP 3
Nikola Jeck; Hannsjörg W Seyberth
Loop disorders: insights derived from defined genotypes.
Eva Riveira-Munoz; Olivier Devuyst; Hendrica Belge; Nikola Jeck; Laurence Strompf; Rosa Vargas-Poussou; Xavier Jeunemaître; Anne BLANCHARD; Nine V A M Knoers; Martin Konrad; Karin Dahan
Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.
Martin C Sassen; Nikola Jeck; Günter Klaus
Can renal tubular hypokalemic disorders be accurately diagnosed on the basis of the diuretic response to thiazide?

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All Publications

2011: Nikola Jeck; Hannsjörg W Seyberth
Loop disorders: insights derived from defined genotypes.
Nephron. Physiology 2011;118(1):p7-14.
2008: Eva Riveira-Munoz; Olivier Devuyst; Hendrica Belge; Nikola Jeck; Laurence Strompf; Rosa Vargas-Poussou; Xavier Jeunemaître; Anne BLANCHARD; Nine V A M Knoers; Martin Konrad; Karin Dahan
Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008;23(10):3120-5.
2007: Martin C Sassen; Nikola Jeck; Günter Klaus
Can renal tubular hypokalemic disorders be accurately diagnosed on the basis of the diuretic response to thiazide?
Nature clinical practice. Nephrology 2007;3(10):528-9.
2007: Marcello Chinali; Giovanni de Simone; Maria Chiara Matteucci; Stefano Picca; Antonio Mastrostefano; Ali Anarat; Salim Caliskan; Nikola Jeck; Thomas J Neuhaus; Amira Peco-Antic; Licia Peruzzi; Sara Testa; Otto Mehls; Elke Wühl; Franz Schaefer
Reduced systolic myocardial function in children with chronic renal insufficiency.
Journal of the American Society of Nephrology : JASN 2007;18(2):593-8.
2006: Carsten A Pressler; Jolanta Heinzinger; Nikola Jeck; Petra Waldegger; Ulla Pechmann; Stephan C Reinalter; Martin Konrad; Rolf Beetz; Hannsjörg W Seyberth; Siegfried Waldegger
Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter.
Journal of the American Society of Nephrology : JASN 2006;17(8):2136-42.
2006: Andreas Frey; Angelika Lampert; Siegfried Waldegger; Nikola Jeck; Petra Waldegger; Ferruh Artunc; Guiscard Seebohm; Undine E Lang; Susan Kupka; Markus Pfister; Julia Hoppe; Christian Gerloff; Elke Schaeffeler; Matthias Schwab; Florian Lang
Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.
Hearing research 2006;214(1-2):68-75.
2006: Juan José Gorgojo; Sergio Donnay; Nikola Jeck; Martin Konrad
A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.
Hormone research 2006;65(2):62-8.
2005: Pavel Horak; Nikola Jeck; Zdenek Frysak; Josef Zadrazil
Gitelman's syndrome in late adulthood.
Clinical endocrinology 2005;63(6):697-9.
2005: Nesrin Besbas; Fatih Ozaltin; Nikola Jeck; Hannsjörg W Seyberth; Michael Ludwig
CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2005;20(7):1476-9.
2005: Nikola Jeck; Karl P Schlingmann; Stephan C Reinalter; Martin Kömhoff; Melanie Peters; Siegfried Waldegger; Hannsjörg W Seyberth
Salt handling in the distal nephron: lessons learned from inherited human disorders.
American journal of physiology. Regulatory, integrative and comparative physiology 2005;288(4):R782-95.
2005: Jolanta Doroszewicz; Petra Waldegger; Nikola Jeck; Hannsjörg W Seyberth; Siegfried Waldegger
pH dependence of extracellular calcium sensing receptor activity determined by a novel technique.
Kidney international 2005;67(1):187-92.
2004: Stephan C Reinalter; Nikola Jeck; Melanie Peters; Hannsjörg W Seyberth
Pharmacotyping of hypokalaemic salt-losing tubular disorders.
Acta physiologica Scandinavica 2004;181(4):513-21.
2004: Nikola Jeck; Siegfried Waldegger; Angelika Lampert; Christoph Boehmer; Petra Waldegger; Philipp A Lang; Bernd Wissinger; Björn Friedrich; Teut Risler; Robert Moehle; Undine E Lang; Peter Zill; Brigitta Bondy; Elke Schaeffeler; Stephen Asante-Poku; Hannsjörg W Seyberth; Matthias Schwab; Florian Lang
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension.
Hypertension 2004;43(6):1175-81.
2004: Karl P Schlingmann; Martin Konrad; Nikola Jeck; Petra Waldegger; Stephan C Reinalter; Martin Holder; Hannsjörg W Seyberth; Siegfried Waldegger
Salt wasting and deafness resulting from mutations in two chloride channels.
The New England journal of medicine 2004;350(13):1314-9.
2004: Nikola Jeck; Petra Waldegger; Jolanta Doroszewicz; Hannsjörg W Seyberth; Siegfried Waldegger
A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity.
Kidney international 2004;65(1):190-7.
2004: Eliecer Coto; Julian Rodriguez; Nikola Jeck; Victoria Alvarez; Rosario Stone; Cesar Loris; Luis M Rodriguez; Michel Fischbach; Hannsjörg W Seyberth; Fernando Santos
A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies.
Kidney international 2004;65(1):25-9.
2003: Melanie Peters; Saskia Ermert; Nikola Jeck; Christian Derst; Ulla Pechmann; Stefanie Weber; Karl P Schlingmann; Hannsjörg W Seyberth; Siegfried Waldegger; Martin Konrad
Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome.
Kidney international 2003;64(3):923-32.
2003: Gal Finer; Hanna Shalev; Ohad Birk; Dalia Galron; Nikola Jeck; Levana Sinai-Treiman; Daniel Landau
Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.
The Journal of pediatrics 2003;142(3):318-23.
2002: Stephan C Reinalter; Nikola Jeck; Christoph Brochhausen; Bernhard Watzer; Rolf M Nüsing; Hannsjörg W Seyberth; Martin Kömhoff
Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome.
Kidney international 2002;62(1):253-60.
2002: Siegfried Waldegger; Nikola Jeck; Petra Barth; Melanie Peters; Helga Vitzthum; Konrad Wolf; Armin Kurtz; Martin Konrad; Hannsjörg W Seyberth
Barttin increases surface expression and changes current properties of ClC-K channels.
Pflügers Archiv : European journal of physiology 2002;444(3):411-8.
2002: Nannette Marr; Daniel G Bichet; Michèle Lonergan; Marie-Françoise Arthus; Nikola Jeck; Hannsjörg W Seyberth; Walter Rosenthal; Carel H van Os; Alexander Oksche; Peter M T Deen
Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
Human molecular genetics 2002;11(7):779-89.
2002: Melanie Peters; Nikola Jeck; Stephan C Reinalter; Andreas Leonhardt; Burkhard Tönshoff; G ünter Klaus G; Martin Konrad; Hannsjörg W Seyberth
Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.
The American journal of medicine 2002;112(3):183-90.
2001: Günter Klaus; Nikola Jeck; Martin Konrad; B Förster; M Soergel
Risk of steroid withdrawal in pediatric renal transplant patients with suspected steroid toxicity.
Clinical nephrology 2001;56(6):S37-42.
2001: Ralf Birkenhäger; Edgar Otto; M J Schürmann; Martin Vollmer; Eva-Maria Ruf; I Maier-Lutz; Frank Beekmann; Andrea Fekete; Heymut Omran; D Feldmann; D V Milford; Nikola Jeck; Martin Konrad; D Landau; Nine V A M Knoers; Corinne Antignac; Ralf Sudbrak; Andreas Kispert; Friedhelm Hildebrandt
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Nature genetics 2001;29(3):310-4.
2001: Nikola Jeck; Stephan C Reinalter; T Henne; W Marg; R Mallmann; K Pasel; Martin Vollmer; Günter Klaus; Andreas Leonhardt; Hannsjörg W Seyberth; Martin Konrad
Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.
Pediatrics 2001;108(1):E5.
2001: Nikola Jeck; Christian Derst; Erhard Wischmeyer; H Ott; Stefanie Weber; C Rudin; Hannsjörg W Seyberth; Jürgen Daut; Andreas Karschin; Martin Konrad
Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.
Kidney international 2001;59(5):1803-11.
2001: Melanie Peters; Nikola Jeck; Hannsjörg W Seyberth; Martin Konrad
Hereditary hypokalemic salt-losing tubulopathies: Bartter-like syndromes.
Contributions to nephrology 2001;(136):157-73.
2000: Stefanie Weber; M Soergel; Nikola Jeck; Martin Konrad
Atypical distal renal tubular acidosis confirmed by mutation analysis.
Pediatric nephrology (Berlin, Germany) 2000;15(3-4):201-4.
2000: Martin Kömhoff; Nikola Jeck; Hannsjörg W Seyberth; Hermann-Josef Gröne; Rolf M Nüsing; Matthew D Breyer
Cyclooxygenase-2 expression is associated with the renal macula densa of patients with Bartter-like syndrome.
Kidney international 2000;58(6):2420-4.
2000: Nikola Jeck; Martin Konrad; Melanie Peters; Stefanie Weber; Klaus-Eugen Bonzel; Hannsjörg W Seyberth
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.
Pediatric research 2000;48(6):754-8.
2000: Hubert Scharnagl; M Schliack; R Löser; Markus Nauck; H Gierens; Nikola Jeck; Heinrich Wieland; Werner Gross; Winfried März
The effects of lifibrol (K12.148) on the cholesterol metabolism of cultured cells: evidence for sterol independent stimulation of the LDL receptor pathway.
Atherosclerosis 2000;153(1):69-80.
2000: Martin Konrad; Martin Vollmer; HH Lemmink; Lambert P van den Heuvel; Nikola Jeck; Rosa Vargas-Poussou; A Lakings; Rainer G Ruf; Georges Deschênes; Corinne Antignac; Lisa M Guay-Woodford; Nine V A M Knoers; Hannsjörg W Seyberth; D Feldmann; Friedhelm Hildebrandt
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Journal of the American Society of Nephrology : JASN 2000;11(8):1449-59.
2000: Martin Vollmer; Nikola Jeck; HH Lemmink; R Vargas; D Feldmann; Martin Konrad; Frank Beekmann; Lambert P van den Heuvel; G Deschenes; Lisa M Guay-Woodford; Corinne Antignac; Hannsjörg W Seyberth; Friedhelm Hildebrandt; Nine V A M Knoers
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2000;15(7):970-4.
2000: Stefanie Weber; K Hoffmann; Nikola Jeck; Kathrin Saar; M Boeswald; E Kuwertz-Broeking; I I Meij; Nine V A M Knoers; P Cochat; T Suláková; Klaus-Eugen Bonzel; M Soergel; F Manz; K Schaerer; Hannsjörg W Seyberth; A Reis; Martin Konrad
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
European journal of human genetics : EJHG 2000;8(6):414-22.
2000: Nikola Jeck; Martin Konrad; M Hess; Hannsjörg W Seyberth
The diuretic- and Bartter-like salt-losing tubulopathies.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2000;15 Suppl 6():19-20.
1999: Uwe Schulte; H Hahn; M Konrad; Nikola Jeck; Christian Derst; Karen Wild; S Weidemann; J Peter Ruppersberg; Bernd Fakler; J Ludwig
pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(26):15298-303.
1998: Christian Derst; Frank Döring; Regina Preisig-Müller; Jürgen Daut; Andreas Karschin; Nikola Jeck; Stefanie Weber; Hartmut Engel; Karl-Heinz Grzeschik
Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).
Genomics 1998;54(3):560-3.
1998: Christian Derst; Erhard Wischmeyer; Regina Preisig-Müller; A Spauschus; Martin Konrad; P Hensen; Nikola Jeck; Hannsjörg W Seyberth; Jürgen Daut; Andreas Karschin
A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels.
The Journal of biological chemistry 1998;273(37):23884-91.