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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. Among authors: muller d. 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.
Epithelial calcium channel: gate-keeper of active calcium reabsorption.
Hoenderop JG, Müller D, Suzuki M, van Os CH, Bindels RJ. Hoenderop JG, et al. Among authors: muller d. Curr Opin Nephrol Hypertens. 2000 Jul;9(4):335-40. doi: 10.1097/00041552-200007000-00003. Curr Opin Nephrol Hypertens. 2000. PMID: 10926168 Review.
Calcitriol controls the epithelial calcium channel in kidney.
Hoenderop JGJ, Müller D, VAN DER Kemp AWCM, Hartog A, Suzuki M, Ishibashi K, Imai M, Sweep F, Willems PHGM, Os CHV, Bindels RJM. Hoenderop JGJ, et al. Among authors: muller d. J Am Soc Nephrol. 2001 Jul;12(7):1342-1349. doi: 10.1681/ASN.V1271342. J Am Soc Nephrol. 2001. PMID: 11423563
4,888 results