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41 results

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Page 1
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.
Meindl K, Issler N, Afonso S, Cebrian-Serrano A, Müller K, Sterner C, Othmen H, Tegtmeier I, Witzgall R, Klootwijk E, Davies B, Kleta R, Warth R. Meindl K, et al. Among authors: sterner c. Front Cell Dev Biol. 2023 Oct 12;11:1240558. doi: 10.3389/fcell.2023.1240558. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37900275 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: sterner c. 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.
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: sterner c. 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.
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S, Sterner C, Tegtmeier I, Penton D, Baukrowitz T, Hulton SA, Witzgall R, Ben-Zeev B, Howie AJ, Kleta R, Bockenhauer D, Warth R. Reichold M, et al. Among authors: sterner c. Proc Natl Acad Sci U S A. 2010 Aug 10;107(32):14490-5. doi: 10.1073/pnas.1003072107. Epub 2010 Jul 22. Proc Natl Acad Sci U S A. 2010. PMID: 20651251 Free PMC article.
Dynamics of renal electrolyte excretion in growing mice.
Schmidt K, Ripper M, Tegtmeier I, Humberg E, Sterner C, Reichold M, Warth R, Bandulik S. Schmidt K, et al. Among authors: sterner c. Nephron Physiol. 2013;124(3-4):7-13. doi: 10.1159/000356816. Epub 2013 Nov 26. Nephron Physiol. 2013. PMID: 24296675 Free 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: sterner c. N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581. N Engl J Med. 2014. PMID: 24401050 Free article.
KCNE beta subunits determine pH sensitivity of KCNQ1 potassium channels.
Heitzmann D, Koren V, Wagner M, Sterner C, Reichold M, Tegtmeier I, Volk T, Warth R. Heitzmann D, et al. Among authors: sterner c. Cell Physiol Biochem. 2007;19(1-4):21-32. doi: 10.1159/000099189. Cell Physiol Biochem. 2007. PMID: 17310097 Free article.
Invalidation of TASK1 potassium channels disrupts adrenal gland zonation and mineralocorticoid homeostasis.
Heitzmann D, Derand R, Jungbauer S, Bandulik S, Sterner C, Schweda F, El Wakil A, Lalli E, Guy N, Mengual R, Reichold M, Tegtmeier I, Bendahhou S, Gomez-Sanchez CE, Aller MI, Wisden W, Weber A, Lesage F, Warth R, Barhanin J. Heitzmann D, et al. Among authors: sterner c. EMBO J. 2008 Jan 9;27(1):179-87. doi: 10.1038/sj.emboj.7601934. Epub 2007 Nov 22. EMBO J. 2008. PMID: 18034154 Free PMC article.
41 results