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Page 1
Collagen IVα345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases.
Pokidysheva EN, Seeger H, Pedchenko V, Chetyrkin S, Bergmann C, Abrahamson D, Cui ZW, Delpire E, Fervenza FC, Fidler AL, Fogo AB, Gaspert A, Grohmann M, Gross O, Haddad G, Harris RC, Kashtan C, Kitching AR, Lorenzen JM, McAdoo S, Pusey CD, Segelmark M, Simmons A, Voziyan PA, Wagner T, Wüthrich RP, Zhao MH, Boudko SP, Kistler AD, Hudson BG. Pokidysheva EN, et al. Among authors: wagner t. J Biol Chem. 2021 Jan-Jun;296:100590. doi: 10.1016/j.jbc.2021.100590. Epub 2021 Mar 26. J Biol Chem. 2021. PMID: 33774048 Free PMC article.
Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy.
Aypek H, Krisp C, Lu S, Liu S, Kylies D, Kretz O, Wu G, Moritz M, Amann K, Benz K, Tong P, Hu ZM, Alsulaiman SM, Khan AO, Grohmann M, Wagner T, Müller-Deile J, Schlüter H, Puelles VG, Bergmann C, Huber TB, Grahammer F. Aypek H, et al. Among authors: wagner t. J Clin Invest. 2022 May 2;132(9):e147253. doi: 10.1172/JCI147253. J Clin Invest. 2022. PMID: 35499085 Free PMC article.
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Bedin M, et al. Among authors: wagner t. J Clin Invest. 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937. J Clin Invest. 2020. PMID: 31613795 Free PMC article. Clinical Trial.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM; Genomics England Research Consortium; Smol T, Devisme L, Franquet H, Attié-Bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J. Münch J, et al. Among authors: wagner t. Kidney Int. 2022 May;101(5):1039-1053. doi: 10.1016/j.kint.2022.01.028. Epub 2022 Feb 26. Kidney Int. 2022. PMID: 35227688 Free PMC article.
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Bedin M, et al. Among authors: wagner t. J Clin Invest. 2022 Jun 1;132(11):e161852. doi: 10.1172/JCI161852. J Clin Invest. 2022. PMID: 35642643 Free PMC article. No abstract available.
2,235 results