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Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23.
Florenzano P, Jimenez M, Ferreira CR, Nesterova G, Roberts MS, Tella SH, Fernandez de Castro L, Gafni RI, Wolf M, Jüppner H, Gales B, Wesseling-Perry K, Markovich D, Gahl WA, Salusky IB, Collins MT. Florenzano P, et al. J Am Soc Nephrol. 2020 Sep;31(9):2184-2192. doi: 10.1681/ASN.2019111172. Epub 2020 Jul 6. J Am Soc Nephrol. 2020. PMID: 32631973 Free PMC article.
A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.
Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, Gregory JW, Allgrove J, Krude H, Mannstadt M, Gardella TJ, Dattani M, Jüppner H, Grüters A. Biebermann H, et al. J Clin Endocrinol Metab. 2019 Apr 1;104(4):1079-1089. doi: 10.1210/jc.2018-01250. J Clin Endocrinol Metab. 2019. PMID: 30312418 Free PMC article.
Discovery of Orally Bioavailable Selective Inhibitors of the Sodium-Phosphate Cotransporter NaPi2a (SLC34A1).
Filipski KJ, Sammons MF, Bhattacharya SK, Panteleev J, Brown JA, Loria PM, Boehm M, Smith AC, Shavnya A, Conn EL, Song K, Weng Y, Facemire C, Jüppner H, Clerin V. Filipski KJ, et al. ACS Med Chem Lett. 2018 Apr 12;9(5):440-445. doi: 10.1021/acsmedchemlett.8b00013. eCollection 2018 May 10. ACS Med Chem Lett. 2018. PMID: 29795756 Free PMC article.
13 results