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Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
Vermeer MCSC, Andrei D, Kramer D, Nijenhuis AM, Hoedemaekers YM, Westers H, Jongbloed JDH, Pas HH, van den Berg MP, Silljé HHW, van der Meer P, Bolling MC. Vermeer MCSC, et al. Among authors: andrei d. Exp Dermatol. 2022 Jun;31(6):970-979. doi: 10.1111/exd.14571. Epub 2022 Apr 1. Exp Dermatol. 2022. PMID: 35325485 Free PMC article.
Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
Verkerk AJMH, Andrei D, Vermeer MCSC, Kramer D, Schouten M, Arp P, Verlouw JAM, Pas HH, Meijer HJ, van der Molen M, Oberdorf-Maass S, Nijenhuis M, Romero-Herrera PH, Hoes MF, Bremer J, Slotman JA, van den Akker PC, Diercks GFH, Giepmans BNG, Stoop H, Saris JJ, van den Ouweland AMW, Willemsen R, Hublin JJ, Dean MC, Hoogeboom AJM, Silljé HHW, Uitterlinden AG, van der Meer P, Bolling MC. Verkerk AJMH, et al. Among authors: andrei d. J Invest Dermatol. 2024 Feb;144(2):284-295.e16. doi: 10.1016/j.jid.2023.02.044. Epub 2023 Sep 15. J Invest Dermatol. 2024. PMID: 37716648 Free article.
Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
Vermeer MCSC, Andrei D, Marsili L, van Tintelen JP, Silljé HHW, van den Berg MP, van der Meer P, Bolling MC. Vermeer MCSC, et al. Among authors: andrei d. Int J Mol Sci. 2022 Sep 15;23(18):10765. doi: 10.3390/ijms231810765. Int J Mol Sci. 2022. PMID: 36142674 Free PMC article. Review.
The Origin of Follicular Bile Acids in the Human Ovary.
Nagy RA, Hollema H, Andrei D, Jurdzinski A, Kuipers F, Hoek A, Tietge UJF. Nagy RA, et al. Among authors: andrei d. Am J Pathol. 2019 Oct;189(10):2036-2045. doi: 10.1016/j.ajpath.2019.06.011. Epub 2019 Jul 29. Am J Pathol. 2019. PMID: 31369754 Free article.
41 results