LINKS FOR FURTHER LEARNING
This page is intended to capture some research papers that help illuminate the current scientific field of CNNM2 knowledge. Primarily, this is a resource targeted at researchers, but we hope it might also be useful for families wanting to learn more about CNNM2-associated disease. Loved ones of patients should begin by reading our FAQ.
An organismal view
- CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance.
Zhang, H., Wu, Y., & Jiang, Y. (2021). - The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken, G.A.C.; Müller, D.; Mignot, C.; Keren, B.; Lévy, J.; Tabet, A.C.; Germanaud, D.; Tejada, M.I.; Kroes, H.Y.; Nievelstein, R.A.; Brimble, E.; Ruzhnikov, M.; Claverie-Martin, F.; Szczepaska, M.; uk, M.; Latta, F.; Konrad, M.; Martínez-Cruz, L.A.; Bindels, R.J.M.; Hoenderop, J.G.J.; Schlingmann, K.P.; Baaij, J.H.F. de. (2021). - Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman, W.; Franken, Gijs A.C.; Heras, Javier de las; Madariaga, L.; Barakat, T.S.; Oostenbrink, Rianne; Baaij, J.H.F. de; Hoenderop, J.G.J. (2024).
- Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects.
Franken, G. A. C., Seker, M., Bos, C., Siemons, L. A. H., van der Eerden, B. C. J., Christ, A., Hoenderop, J. G. J., Bindels, R. J. M., Müller, D., Breiderhoff, T., & de Baaij, J. H. F. (2021). - CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
Arjona, F. J., de Baaij, J. H., Schlingmann, K. P., Lameris, A. L., van Wijk, E., Flik, G., Regele, S., Korenke, G. C., Neophytou, B., Rust, S., Reintjes, N., Konrad, M., Bindels, R. J., & Hoenderop, J. G. (2014). - Importance of the renal ion channel TRPM6 in the circadian secretion of renin to raise blood pressure.
Funato, Y., Yamazaki, D., Okuzaki, D., Yamamoto, N., & Miki, H. (2021).
- Magnesium reabsorption in the kidney (https://www.jain-foundation.org/wp-content/uploads/2026/02/de-baaij-2023-magnesium-reabsorption-in-the-kidney0.pdf)
Cellular and molecular mechanisms
- CNNMs as dimers (https://www.jain-foundation.org/wp-content/uploads/2026/02/CNNM_dimerization.pdf)
- Hoenderop 2021 (https://www.jain-foundation.org/wp-content/uploads/2026/02/CNNM2_genotype_phenotype_hoenderop_2021.pdf)
- Hoenderop 2024 (https://www.jain-foundation.org/wp-content/uploads/2026/02/CNNM2_genotype_phenotype_hoenderop_2024.pdf)
- PACT network (https://www.jain-foundation.org/wp-content/uploads/2026/02/blackburn_PACTnetwork.pdf)
- Possible relationship with TRPM6 (https://www.jain-foundation.org/wp-content/uploads/2026/02/41467_2021_Article_24063.pdf)
