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Page 1
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. Franken GAC, et al. Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33600043 Free PMC article.
ARL15 modulates magnesium homeostasis through N-glycosylation of CNNMs.
Zolotarov Y, Ma C, González-Recio I, Hardy S, Franken GAC, Uetani N, Latta F, Kostantin E, Boulais J, Thibault MP, Côté JF, Díaz-Moreno I, Quintana AD, Hoenderop JGJ, Martínez-Cruz LA, Tremblay ML, de Baaij JHF. Zolotarov Y, et al. Among authors: franken gac. Cell Mol Life Sci. 2021 Jul;78(13):5427-5445. doi: 10.1007/s00018-021-03832-8. Epub 2021 Jun 5. Cell Mol Life Sci. 2021. PMID: 34089346 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: franken gac. 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.
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ. Bosman W, et al. Among authors: franken gac. Sci Rep. 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7. Sci Rep. 2024. PMID: 38519529 Free PMC article.
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
Buerger F, Merz LM, Saida K, Yu S, Salmanullah D, Lemberg K, Mertens ND, Mansour B, Kolvenbach CM, Yousef K, Hölzel S, Braun A, Franken GAC, Goncalves KA, Steinsapir A, Endlich N, Schneider R, Shril S, Hildebrandt F. Buerger F, et al. Among authors: franken gac. Am J Physiol Renal Physiol. 2024 May 1;326(5):F780-F791. doi: 10.1152/ajprenal.00412.2023. Epub 2024 Mar 14. Am J Physiol Renal Physiol. 2024. PMID: 38482553