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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D. Cabezas OR, et al. Among authors: hofherr a. J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3. J Am Soc Nephrol. 2017. PMID: 28373276 Free PMC article.
TRPP channels and polycystins.
Hofherr A, Köttgen M. Hofherr A, et al. Adv Exp Med Biol. 2011;704:287-313. doi: 10.1007/978-94-007-0265-3_16. Adv Exp Med Biol. 2011. PMID: 21290302 Review.
Cilia-localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney.
Viau A, Bienaimé F, Lukas K, Todkar AP, Knoll M, Yakulov TA, Hofherr A, Kretz O, Helmstädter M, Reichardt W, Braeg S, Aschman T, Merkle A, Pfeifer D, Dumit VI, Gubler MC, Nitschke R, Huber TB, Terzi F, Dengjel J, Grahammer F, Köttgen M, Busch H, Boerries M, Walz G, Triantafyllopoulou A, Kuehn EW. Viau A, et al. Among authors: hofherr a. EMBO J. 2018 Aug 1;37(15):e98615. doi: 10.15252/embj.201798615. Epub 2018 Jun 19. EMBO J. 2018. PMID: 29925518 Free PMC article.
Rapid target validation in a Cas9-inducible hiPSC derived kidney model.
Shamshirgaran Y, Jonebring A, Svensson A, Leefa I, Bohlooly-Y M, Firth M, Woollard KJ, Hofherr A, Rogers IM, Hicks R. Shamshirgaran Y, et al. Among authors: hofherr a. Sci Rep. 2021 Aug 16;11(1):16532. doi: 10.1038/s41598-021-95986-5. Sci Rep. 2021. PMID: 34400685 Free PMC article.
28 results