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Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
de Wagenaar NP, van den Bersselaar LM, Odijk HJHM, Stefens SJM, Reinhardt DP, Roos-Hesselink JW, Kanaar R, Verhagen JMA, Brüggenwirth HT, van de Laar IMBH, van der Pluijm I, Essers J. de Wagenaar NP, et al. Among authors: stefens sjm. Hum Mol Genet. 2024 Jun 5;33(12):1090-1104. doi: 10.1093/hmg/ddae044. Hum Mol Genet. 2024. PMID: 38538566 Free PMC article.
Ercc1 DNA repair deficiency results in vascular aging characterized by VSMC phenotype switching, ECM remodeling, and an increased stress response.
van der Linden J, Stefens SJM, Heredia-Genestar JM, Ridwan Y, Brandt RMC, van Vliet N, de Beer I, van Thiel BS, Steen H, Cheng C, Roks AJM, Danser AHJ, Essers J, van der Pluijm I. van der Linden J, et al. Among authors: stefens sjm. Aging Cell. 2024 May;23(5):e14126. doi: 10.1111/acel.14126. Epub 2024 Mar 7. Aging Cell. 2024. PMID: 38451018 Free PMC article.