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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, de Villemeur TB, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M. Gonçalves S, et al. Among authors: simons m. PLoS Genet. 2018 Oct 26;14(10):e1007748. doi: 10.1371/journal.pgen.1007748. eCollection 2018 Oct. PLoS Genet. 2018. PMID: 30365502 Free PMC article.
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Billette de Villemeur T, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M. Gonçalves S, et al. Among authors: simons m. PLoS Genet. 2018 May 16;14(5):e1007386. doi: 10.1371/journal.pgen.1007386. eCollection 2018 May. PLoS Genet. 2018. PMID: 29768408 Free PMC article.
Old friends form alliance against podocytes.
Simons M, Huber TB. Simons M, et al. Kidney Int. 2011 Dec;80(11):1117-9. doi: 10.1038/ki.2011.298. Kidney Int. 2011. PMID: 22083635 Free article.
Flying podocytes.
Simons M, Huber TB. Simons M, et al. Kidney Int. 2009 Mar;75(5):455-7. doi: 10.1038/ki.2008.653. Kidney Int. 2009. PMID: 19219000 Free article.
Using Drosophila nephrocytes in genetic kidney disease.
Helmstädter M, Simons M. Helmstädter M, et al. Among authors: simons m. Cell Tissue Res. 2017 Jul;369(1):119-126. doi: 10.1007/s00441-017-2606-z. Epub 2017 Apr 12. Cell Tissue Res. 2017. PMID: 28401308
It's not all about nephrin.
Simons M, Huber TB. Simons M, et al. Kidney Int. 2008 Mar;73(6):671-3. doi: 10.1038/sj.ki.5002798. Kidney Int. 2008. PMID: 18309348 Free article.
Podocyte polarity signalling.
Simons M, Hartleben B, Huber TB. Simons M, et al. Curr Opin Nephrol Hypertens. 2009 Jul;18(4):324-30. doi: 10.1097/MNH.0b013e32832e316d. Curr Opin Nephrol Hypertens. 2009. PMID: 19542980 Review.
V-ATPase/mTOR signaling regulates megalin-mediated apical endocytosis.
Gleixner EM, Canaud G, Hermle T, Guida MC, Kretz O, Helmstädter M, Huber TB, Eimer S, Terzi F, Simons M. Gleixner EM, et al. Among authors: simons m. Cell Rep. 2014 Jul 10;8(1):10-9. doi: 10.1016/j.celrep.2014.05.035. Epub 2014 Jun 19. Cell Rep. 2014. PMID: 24953654 Free 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: simons m. 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.
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F. Lovric S, et al. Among authors: simons m. J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165339 Free PMC article.
1,489 results