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Page 1
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. Schlingmann KP, et al. Among authors: bos c. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333. Epub 2021 Oct 4. J Am Soc Nephrol. 2021. PMID: 34607910 Free PMC article.
Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.
Vargas-Poussou R, Claverie-Martin F, Prot-Bertoye C, Carotti V, van der Wijst J, Perdomo-Ramirez A, Fraga-Rodriguez GM, Hureaux M, Bos C, Latta F, Houillier P, Hoenderop JGJ, de Baaij JHF. Vargas-Poussou R, et al. Among authors: bos c. Nephrol Dial Transplant. 2023 Feb 28;38(3):679-690. doi: 10.1093/ndt/gfac182. Nephrol Dial Transplant. 2023. PMID: 35561741 Free PMC article.
SLC41A1 knockout mice display normal magnesium homeostasis.
Ilenwabor BP, Franken GAC, Sponder G, Bos C, Racay P, Kolisek M, Hoenderop JGJ, de Baaij JHF. Ilenwabor BP, et al. Among authors: bos c. Am J Physiol Renal Physiol. 2022 Nov 1;323(5):F553-F563. doi: 10.1152/ajprenal.00101.2022. Epub 2022 Sep 1. Am J Physiol Renal Physiol. 2022. PMID: 36049064 Free article.
FAM111A is dispensable for electrolyte homeostasis in mice.
Ilenwabor BP, Schigt H, Kompatscher A, Bos C, Zuidscherwoude M, van der Eerden BCJ, Hoenderop JGJ, de Baaij JHF. Ilenwabor BP, et al. Among authors: bos c. Sci Rep. 2022 Jun 17;12(1):10211. doi: 10.1038/s41598-022-14054-8. Sci Rep. 2022. PMID: 35715480 Free PMC article.
Magnesium prevents vascular calcification in Klotho deficiency.
Ter Braake AD, Smit AE, Bos C, van Herwaarden AE, Alkema W, van Essen HW, Bravenboer N, Vervloet MG, Hoenderop JGJ, de Baaij JHF. Ter Braake AD, et al. Among authors: bos c. Kidney Int. 2020 Mar;97(3):487-501. doi: 10.1016/j.kint.2019.09.034. Epub 2019 Nov 2. Kidney Int. 2020. PMID: 31866113 Free article.
P2X6 Knockout Mice Exhibit Normal Electrolyte Homeostasis.
de Baaij JH, Kompatscher A, Viering DH, Bos C, Bindels RJ, Hoenderop JG. de Baaij JH, et al. Among authors: bos c. PLoS One. 2016 Jun 2;11(6):e0156803. doi: 10.1371/journal.pone.0156803. eCollection 2016. PLoS One. 2016. PMID: 27254077 Free PMC article.
17 results