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Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz MM, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, Guillen Sacoto MJ, Chung WK, Bellen HJ. Lu S, et al. Among authors: de baaij jhf. Am J Hum Genet. 2022 Apr 7;109(4):571-586. doi: 10.1016/j.ajhg.2022.01.020. Epub 2022 Mar 2. Am J Hum Genet. 2022. PMID: 35240055 Free PMC article.
Mitochondrial Dysfunction in Kidney Tubulopathies.
Hoogstraten CA, Hoenderop JG, de Baaij JHF. Hoogstraten CA, et al. Among authors: de baaij jhf. Annu Rev Physiol. 2024 Feb 12;86:379-403. doi: 10.1146/annurev-physiol-042222-025000. Epub 2023 Nov 27. Annu Rev Physiol. 2024. PMID: 38012047 Free article. Review.
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: de baaij jhf. 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.
Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects.
Franken GAC, Seker M, Bos C, Siemons LAH, van der Eerden BCJ, Christ A, Hoenderop JGJ, Bindels RJM, Müller D, Breiderhoff T, de Baaij JHF. Franken GAC, et al. Among authors: de baaij jhf. Sci Rep. 2021 Apr 15;11(1):8217. doi: 10.1038/s41598-021-87548-6. Sci Rep. 2021. PMID: 33859252 Free PMC 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: de baaij jhf. Sci Rep. 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7. Sci Rep. 2024. PMID: 38519529 Free PMC article.
Membrane topology and intracellular processing of cyclin M2 (CNNM2).
de Baaij JH, Stuiver M, Meij IC, Lainez S, Kopplin K, Venselaar H, Müller D, Bindels RJ, Hoenderop JG. de Baaij JH, et al. J Biol Chem. 2012 Apr 20;287(17):13644-55. doi: 10.1074/jbc.M112.342204. Epub 2012 Mar 7. J Biol Chem. 2012. PMID: 22399287 Free PMC article.
100 results