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LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys.
Burghardt T, Kastner J, Suleiman H, Rivera-Milla E, Stepanova N, Lottaz C, Kubitza M, Böger CA, Schmidt S, Gorski M, de Vries U, Schmidt H, Hertting I, Kopp J, Rascle A, Moser M, Heid IM, Warth R, Spang R, Wegener J, Mierke CT, Englert C, Witzgall R. Burghardt T, et al. Among authors: warth r. J Am Soc Nephrol. 2013 Nov;24(11):1830-48. doi: 10.1681/ASN.2012080788. Epub 2013 Aug 29. J Am Soc Nephrol. 2013. PMID: 23990680 Free PMC article.
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R. Reichold M, et al. Among authors: warth r. J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13. J Am Soc Nephrol. 2018. PMID: 29654216 Free PMC article.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R. Issler N, et al. Among authors: warth r. J Am Soc Nephrol. 2022 Apr;33(4):732-745. doi: 10.1681/ASN.2021101312. Epub 2022 Feb 11. J Am Soc Nephrol. 2022. PMID: 35149593 Free PMC article.
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R. Klootwijk ED, et al. Among authors: warth r. N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581. N Engl J Med. 2014. PMID: 24401050 Free article.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M. Schlingmann KP, et al. Among authors: warth r. J Am Soc Nephrol. 2021 Jun 1;32(6):1498-1512. doi: 10.1681/ASN.2020111587. Epub 2021 Apr 2. J Am Soc Nephrol. 2021. PMID: 33811157 Free PMC article.
Rescue of the mineralocorticoid receptor knock-out mouse.
Bleich M, Warth R, Schmidt-Hieber M, Schulz-Baldes A, Hasselblatt P, Fisch D, Berger S, Kunzelmann K, Kriz W, Schütz G, Greger R. Bleich M, et al. Among authors: warth r. Pflugers Arch. 1999 Aug;438(3):245-54. doi: 10.1007/s004240050906. Pflugers Arch. 1999. PMID: 10398852
188 results