Schlingmann KP - Search Results

1

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: schlingmann kp. Kidney Int. 2003 Sep;64(3):923-32. doi: 10.1046/j.1523-1755.2003.00153.x. Kidney Int. 2003. PMID: 12911542 Free article.

2

Primary gene structure and expression studies of rodent paracellin-1.

Weber S, Schlingmann KP, Peters M, Nejsum LN, Nielsen S, Engel H, Grzeschik KH, Seyberth HW, Gröne HJ, Nüsing R, Konrad M. Weber S, et al. Among authors: schlingmann kp. J Am Soc Nephrol. 2001 Dec;12(12):2664-2672. doi: 10.1681/ASN.V12122664. J Am Soc Nephrol. 2001. PMID: 11729235

3

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. Nat Genet. 2002 Jun;31(2):166-70. doi: 10.1038/ng889. Epub 2002 May 28. Nat Genet. 2002. PMID: 12032568

4

Genetics of hereditary disorders of magnesium homeostasis.

Schlingmann KP, Konrad M, Seyberth HW. Schlingmann KP, et al. Pediatr Nephrol. 2004 Jan;19(1):13-25. doi: 10.1007/s00467-003-1293-z. Epub 2003 Nov 22. Pediatr Nephrol. 2004. PMID: 14634861 Review.

5

Insights into the molecular nature of magnesium homeostasis.

Konrad M, Schlingmann KP, Gudermann T. Konrad M, et al. Among authors: schlingmann kp. Am J Physiol Renal Physiol. 2004 Apr;286(4):F599-605. doi: 10.1152/ajprenal.00312.2003. Am J Physiol Renal Physiol. 2004. PMID: 15001450 Free article. Review.

6

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. 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.

7

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: schlingmann kp. 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.

8

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. 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

9

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: schlingmann kp. 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.

10

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: schlingmann kp. 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.

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