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Items: 1 to 50 of 108

1.

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M.

Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.

2.

Successful management of recurrent focal segmental glomerulosclerosis.

Kienzl-Wagner K, Rosales A, Scheidl S, Giner T, Bösmüller C, Rudnicki M, Oberhuber R, Margreiter C, Soleiman A, Öfner D, Waldegger S, Schneeberger S.

Am J Transplant. 2018 Nov;18(11):2818-2822. doi: 10.1111/ajt.14998. Epub 2018 Aug 13.

3.

Therapeutic plasma exchange in children: One center's experience.

Cortina G, Ojinaga V, Giner T, Riedl M, Waldegger S, Rosales A, Trojer R, Hofer J.

J Clin Apher. 2017 Dec;32(6):494-500. doi: 10.1002/jca.21547. Epub 2017 May 9.

PMID:
28485072
4.

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T.

Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6.

5.

Decreased Urinary Sodium-to-urinary Creatinine Ratio Identifies Sodium Depletion in Pediatric Acute Gastroenteritis.

Heinz-Erian P, Akdar Z, Haerter B, Waldegger S, Giner T, Scholl-Bürgi S, Mueller T.

Klin Padiatr. 2016 Jan;228(1):24-8. doi: 10.1055/s-0035-1559689. Epub 2015 Sep 10.

PMID:
26356318
6.

De novo tacrolimus-induced thrombotic microangiopathy in the early stage after renal transplantation successfully treated with conversion to everolimus.

Cortina G, Trojer R, Waldegger S, Schneeberger S, Gut N, Hofer J.

Pediatr Nephrol. 2015 Apr;30(4):693-7. doi: 10.1007/s00467-014-3036-8. Epub 2015 Jan 12.

PMID:
25577332
7.

Genetic homogeneity but IgG subclass-dependent clinical variability of alloimmune membranous nephropathy with anti-neutral endopeptidase antibodies.

Vivarelli M, Emma F, Pellé T, Gerken C, Pedicelli S, Diomedi-Camassei F, Klaus G, Waldegger S, Ronco P, Debiec H.

Kidney Int. 2015 Mar;87(3):602-9. doi: 10.1038/ki.2014.381. Epub 2015 Jan 7.

PMID:
25565308
8.

TGF-β directs trafficking of the epithelial sodium channel ENaC which has implications for ion and fluid transport in acute lung injury.

Peters DM, Vadász I, Wujak L, Wygrecka M, Olschewski A, Becker C, Herold S, Papp R, Mayer K, Rummel S, Brandes RP, Günther A, Waldegger S, Eickelberg O, Seeger W, Morty RE.

Proc Natl Acad Sci U S A. 2014 Jan 21;111(3):E374-83. doi: 10.1073/pnas.1306798111. Epub 2013 Dec 9.

9.

The glycolytic enzymes glyceraldehyde 3-phosphate dehydrogenase and enolase interact with the renal epithelial K+ channel ROMK2 and regulate its function.

Renigunta A, Mutig K, Rottermann K, Schlichthörl G, Preisig-Müller R, Daut J, Waldegger S, Renigunta V.

Cell Physiol Biochem. 2011;28(4):663-72. doi: 10.1159/000335761. Epub 2011 Dec 14.

10.

Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function.

Renigunta A, Renigunta V, Saritas T, Decher N, Mutig K, Waldegger S.

J Biol Chem. 2011 Jan 21;286(3):2224-35. doi: 10.1074/jbc.M110.149880. Epub 2010 Nov 16.

11.

Claudin-4 forms paracellular chloride channel in the kidney and requires claudin-8 for tight junction localization.

Hou J, Renigunta A, Yang J, Waldegger S.

Proc Natl Acad Sci U S A. 2010 Oct 19;107(42):18010-5. doi: 10.1073/pnas.1009399107. Epub 2010 Oct 4.

12.

Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.

Hou J, Renigunta A, Gomes AS, Hou M, Paul DL, Waldegger S, Goodenough DA.

Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15350-5. doi: 10.1073/pnas.0907724106. Epub 2009 Aug 24.

13.

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T.

Neurology. 2008 Jul 15;71(3):177-83. doi: 10.1212/01.wnl.0000317090.92185.ec.

PMID:
18625963
14.

Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.

Hou J, Renigunta A, Konrad M, Gomes AS, Schneeberger EE, Paul DL, Waldegger S, Goodenough DA.

J Clin Invest. 2008 Feb;118(2):619-28. doi: 10.1172/JCI33970.

15.

Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.

Krämer BK, Bergler T, Stoelcker B, Waldegger S.

Nat Clin Pract Nephrol. 2008 Jan;4(1):38-46. Review.

PMID:
18094726
16.

TRPM6 and TRPM7--Gatekeepers of human magnesium metabolism.

Schlingmann KP, Waldegger S, Konrad M, Chubanov V, Gudermann T.

Biochim Biophys Acta. 2007 Aug;1772(8):813-21. Epub 2007 Apr 3. Review.

17.

Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6.

Chubanov V, Schlingmann KP, Wäring J, Heinzinger J, Kaske S, Waldegger S, Mederos y Schnitzler M, Gudermann T.

J Biol Chem. 2007 Mar 9;282(10):7656-67. Epub 2006 Dec 29.

18.

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S.

Am J Hum Genet. 2006 Nov;79(5):949-57. Epub 2006 Sep 19.

19.

Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter.

Pressler CA, Heinzinger J, Jeck N, Waldegger P, Pechmann U, Reinalter S, Konrad M, Beetz R, Seyberth HW, Waldegger S.

J Am Soc Nephrol. 2006 Aug;17(8):2136-42. Epub 2006 Jun 28.

20.

Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.

Frey A, Lampert A, Waldegger S, Jeck N, Waldegger P, Artunc F, Seebohm G, Lang UE, Kupka S, Pfister M, Hoppe J, Gerloff C, Schaeffeler E, Schwab M, Lang F.

Hear Res. 2006 Apr;214(1-2):68-75. Epub 2006 Mar 23.

PMID:
16549283
21.

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DE, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M.

J Am Soc Nephrol. 2005 Oct;16(10):3061-9. Epub 2005 Aug 17.

22.

Renal tubular transport and the genetic basis of hypertensive disease.

Lang F, Capasso G, Schwab M, Waldegger S.

Clin Exp Nephrol. 2005 Jun;9(2):91-9. Review.

PMID:
15980941
23.

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

Ludwig M, Doroszewicz J, Seyberth HW, Bökenkamp A, Balluch B, Nuutinen M, Utsch B, Waldegger S.

Hum Genet. 2005 Jul;117(2-3):228-37. Epub 2005 May 14.

PMID:
15895257
24.

Salt handling in the distal nephron: lessons learned from inherited human disorders.

Jeck N, Schlingmann KP, Reinalter SC, Kömhoff M, Peters M, Waldegger S, Seyberth HW.

Am J Physiol Regul Integr Comp Physiol. 2005 Apr;288(4):R782-95. Review.

25.

Influence of standard haemodialysis treatment on transcription of human serum- and glucocorticoid-inducible kinase SGK1 and taurine transporter TAUT in blood leukocytes.

Friedrich B, Alexander D, Aicher WK, Duszenko M, Schaub TP, Passlick-Deetjen J, Waldegger S, Wolf S, Risler T, Lang F.

Nephrol Dial Transplant. 2005 Apr;20(4):768-74. Epub 2005 Feb 8.

PMID:
15701671
26.

pH dependence of extracellular calcium sensing receptor activity determined by a novel technique.

Doroszewicz J, Waldegger P, Jeck N, Seyberth H, Waldegger S.

Kidney Int. 2005 Jan;67(1):187-92.

27.

Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases.

Embark HM, Böhmer C, Palmada M, Rajamanickam J, Wyatt AW, Wallisch S, Capasso G, Waldegger P, Seyberth HW, Waldegger S, Lang F.

Kidney Int. 2004 Nov;66(5):1918-25.

28.

Serum and glucocorticoid inducible kinases functionally regulate ClC-2 channels.

Palmada M, Dieter M, Boehmer C, Waldegger S, Lang F.

Biochem Biophys Res Commun. 2004 Sep 3;321(4):1001-6.

PMID:
15358127
29.

Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension.

Jeck N, Waldegger S, Lampert A, Boehmer C, Waldegger P, Lang PA, Wissinger B, Friedrich B, Risler T, Moehle R, Lang UE, Zill P, Bondy B, Schaeffeler E, Asante-Poku S, Seyberth H, Schwab M, Lang F.

Hypertension. 2004 Jun;43(6):1175-81. Epub 2004 May 17.

PMID:
15148291
30.

Salt wasting and deafness resulting from mutations in two chloride channels.

Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S.

N Engl J Med. 2004 Mar 25;350(13):1314-9. No abstract available.

31.

Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia.

Chubanov V, Waldegger S, Mederos y Schnitzler M, Vitzthum H, Sassen MC, Seyberth HW, Konrad M, Gudermann T.

Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):2894-9. Epub 2004 Feb 19.

32.

A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity.

Jeck N, Waldegger P, Doroszewicz J, Seyberth H, Waldegger S.

Kidney Int. 2004 Jan;65(1):190-7.

33.

Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome.

Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S, Schlingmann KP, Seyberth HW, Waldegger S, Konrad M.

Kidney Int. 2003 Sep;64(3):923-32.

34.

Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.

Ludwig M, Waldegger S, Nuutinen M, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B.

Kidney Blood Press Res. 2003;26(3):176-84.

35.

Heartburn: cardiac potassium channels involved in parietal cell acid secretion.

Waldegger S.

Pflugers Arch. 2003 May;446(2):143-7. Epub 2003 Mar 27. Review.

PMID:
12684798
36.

Regulation of channels by the serum and glucocorticoid-inducible kinase - implications for transport, excitability and cell proliferation.

Lang F, Henke G, Embark HM, Waldegger S, Palmada M, Böhmer C, Vallon V.

Cell Physiol Biochem. 2003;13(1):41-50. Review.

37.

Barttin increases surface expression and changes current properties of ClC-K channels.

Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, Kurtz A, Konrad M, Seyberth HW.

Pflugers Arch. 2002 Jun;444(3):411-8. Epub 2002 Apr 9.

PMID:
12111250
38.

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M.

Nat Genet. 2002 Jun;31(2):166-70. Epub 2002 May 28.

PMID:
12032568
39.

Expression of the serine/threonine kinase hSGK1 in chronic viral hepatitis.

Fillon S, Klingel K, Wärntges S, Sauter M, Gabrysch S, Pestel S, Tanneur V, Waldegger S, Zipfel A, Viebahn R, Häussinger D, Bröer S, Kandolf R, Lang F.

Cell Physiol Biochem. 2002;12(1):47-54.

40.

Serum- and glucocorticoid-dependent kinase, cell volume, and the regulation of epithelial transport.

Fillon S, Wärntges S, Matskevitch J, Moschen I, Setiawan I, Gamper N, Feng YX, Stegen C, Friedrich B, Waldegger S, Bröer S, Wagner CA, Huber SM, Klingel K, Vereninov A, Lang F.

Comp Biochem Physiol A Mol Integr Physiol. 2001 Oct;130(3):367-76. Review.

PMID:
11913450
41.

Cerebral localization and regulation of the cell volume-sensitive serum- and glucocorticoid-dependent kinase SGK1.

Wärntges S, Friedrich B, Henke G, Duranton C, Lang PA, Waldegger S, Meyermann R, Kuhl D, Speckmann EJ, Obermüller N, Witzgall R, Mack AF, Wagner HJ, Wagner A, Bröer S, Lang F.

Pflugers Arch. 2002 Feb;443(4):617-24. Epub 2001 Nov 9.

PMID:
11907829
42.

Colocalization of KCNQ1/KCNE channel subunits in the mouse gastrointestinal tract.

Dedek K, Waldegger S.

Pflugers Arch. 2001 Sep;442(6):896-902.

PMID:
11680623
43.

Effects of the serine/threonine kinase SGK1 on the epithelial Na(+) channel (ENaC) and CFTR: implications for cystic fibrosis.

Wagner CA, Ott M, Klingel K, Beck S, Melzig J, Friedrich B, Wild KN, Bröer S, Moschen I, Albers A, Waldegger S, Tümmler B, Egan ME, Geibel JP, Kandolf R, Lang F.

Cell Physiol Biochem. 2001;11(4):209-18.

44.

Intracellular anions as the voltage sensor of prestin, the outer hair cell motor protein.

Oliver D, He DZ, Klöcker N, Ludwig J, Schulte U, Waldegger S, Ruppersberg JP, Dallos P, Fakler B.

Science. 2001 Jun 22;292(5525):2340-3.

45.

Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.

Waldegger S, Moschen I, Ramirez A, Smith RJ, Ayadi H, Lang F, Kubisch C.

Genomics. 2001 Feb 15;72(1):43-50. Erratum in: Genomics 2001 Sep;77(1-2):115.

PMID:
11247665
46.

h-sgk serine-threonine protein kinase as transcriptional target of p38/MAP kinase pathway in HepG2 human hepatoma cells.

Waldegger S, Gabrysch S, Barth P, Fillon S, Lang F.

Cell Physiol Biochem. 2000;10(4):203-8.

47.

Expression of cell volume-regulated kinase h-sgk in pancreatic tissue.

Klingel K, Wärntges S, Bock J, Wagner CA, Sauter M, Waldegger S, Kandolf R, Lang F.

Am J Physiol Gastrointest Liver Physiol. 2000 Nov;279(5):G998-G1002.

48.

Potent stimulation and inhibition of the CFTR Cl(-) current by phloxine B.

Bachmann A, Russ U, Waldegger S, Quast U.

Br J Pharmacol. 2000 Oct;131(3):433-40.

49.

Effect of urea and osmotic cell shrinkage on Ca2+ entry and contraction of vascular smooth muscle cells.

Wagner CA, Huber SM, Wärntges S, Zempel G, Kaba NK, Fux R, Orth N, Busch GL, Waldegger S, Lambert I, Nilius B, Heinle H, Lang F.

Pflugers Arch. 2000 Jun;440(2):295-301.

PMID:
10898530
50.

Deranged transcriptional regulation of cell-volume-sensitive kinase hSGK in diabetic nephropathy.

Lang F, Klingel K, Wagner CA, Stegen C, Warntges S, Friedrich B, Lanzendorfer M, Melzig J, Moschen I, Steuer S, Waldegger S, Sauter M, Paulmichl M, Gerke V, Risler T, Gamba G, Capasso G, Kandolf R, Hebert SC, Massry SG, Broër S.

Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):8157-62.

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