Waldegger S - Search Results

1

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. Schlingmann KP, et al. Among authors: waldegger s. Nat Genet. 2002 Jun;31(2):166-70. doi: 10.1038/ng889. Epub 2002 May 28. Nat Genet. 2002. PMID: 12032568

2

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. Schlingmann KP, et al. Among authors: waldegger s. J Am Soc Nephrol. 2005 Oct;16(10):3061-9. doi: 10.1681/ASN.2004110989. Epub 2005 Aug 17. J Am Soc Nephrol. 2005. PMID: 16107578

3

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. Chubanov V, et al. Among authors: waldegger s. J Biol Chem. 2007 Mar 9;282(10):7656-67. doi: 10.1074/jbc.M611117200. Epub 2006 Dec 29. J Biol Chem. 2007. PMID: 17197439 Free article.

4

TRPM6 and TRPM7--Gatekeepers of human magnesium metabolism.

Schlingmann KP, Waldegger S, Konrad M, Chubanov V, Gudermann T. Schlingmann KP, et al. Among authors: waldegger s. Biochim Biophys Acta. 2007 Aug;1772(8):813-21. doi: 10.1016/j.bbadis.2007.03.009. Epub 2007 Apr 3. Biochim Biophys Acta. 2007. PMID: 17481860 Free article. Review.

5

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. Chubanov V, et al. Among authors: waldegger s. Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):2894-9. doi: 10.1073/pnas.0305252101. Epub 2004 Feb 19. Proc Natl Acad Sci U S A. 2004. PMID: 14976260 Free PMC article.

6

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. Jeck N, et al. Among authors: waldegger s. Am J Physiol Regul Integr Comp Physiol. 2005 Apr;288(4):R782-95. doi: 10.1152/ajpregu.00600.2004. Am J Physiol Regul Integr Comp Physiol. 2005. PMID: 15793031 Free article. Review.

7

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. Waldegger S, et al. Pflugers Arch. 2002 Jun;444(3):411-8. doi: 10.1007/s00424-002-0819-8. Epub 2002 Apr 9. Pflugers Arch. 2002. PMID: 12111250

8

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. Peters M, et al. Among authors: waldegger s. Kidney Int. 2003 Sep;64(3):923-32. doi: 10.1046/j.1523-1755.2003.00153.x. Kidney Int. 2003. PMID: 12911542 Free article.

9

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. Schlingmann KP, et al. Among authors: waldegger s, waldegger p. N Engl J Med. 2004 Mar 25;350(13):1314-9. doi: 10.1056/NEJMoa032843. N Engl J Med. 2004. PMID: 15044642 Free article. No abstract available.

10

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. Konrad M, et al. Among authors: waldegger s. Am J Hum Genet. 2006 Nov;79(5):949-57. doi: 10.1086/508617. Epub 2006 Sep 19. Am J Hum Genet. 2006. PMID: 17033971 Free PMC article.

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