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TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.
Kampf LL, Schneider R, Gerstner L, Thünauer R, Chen M, Helmstädter M, Amar A, Onuchic-Whitford AC, Loza Munarriz R, Berdeli A, Müller D, Schrezenmeier E, Budde K, Mane S, Laricchia KM, Rehm HL, MacArthur DG, Lifton RP, Walz G, Römer W, Bergmann C, Hildebrandt F, Hermle T. Kampf LL, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2019 Dec;30(12):2338-2353. doi: 10.1681/ASN.2019040414. Epub 2019 Nov 15. J Am Soc Nephrol. 2019. PMID: 31732614 Free PMC article.
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Konrad M, Vollmer M, Lemmink HH, VAN DEN Heuvel LPWJ, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NVAM, Seyberth HW, Feldmann D, Hildebrandt F. Konrad M, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2000 Aug;11(8):1449-1459. doi: 10.1681/ASN.V1181449. J Am Soc Nephrol. 2000. PMID: 10906158
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F; Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group. Ruf RG, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2004 Mar;15(3):722-32. doi: 10.1097/01.asn.0000113552.59155.72. J Am Soc Nephrol. 2004. PMID: 14978175
NPHS2 mutation associated with recurrence of proteinuria after transplantation.
Billing H, Müller D, Ruf R, Lichtenberger A, Hildebrandt F, August C, Querfeld U, Haffner D. Billing H, et al. Among authors: hildebrandt f. Pediatr Nephrol. 2004 May;19(5):561-4. doi: 10.1007/s00467-003-1408-6. Epub 2004 Mar 10. Pediatr Nephrol. 2004. PMID: 15015071 Free article.
456 results