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Page 1
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. Hum Mol Genet. 2024 Jun 5;33(12):1090-1104. doi: 10.1093/hmg/ddae044. Hum Mol Genet. 2024. PMID: 38538566 Free PMC article.
Contraction pressure analysis using optical imaging in normal and MYBPC3-mutated hiPSC-derived cardiomyocytes grown on matrices with tunable stiffness.
Snelders M, Koedijk IH, Schirmer J, Mulleners O, van Leeuwen J, de Wagenaar NP, Bartulos O, Voskamp P, Braam S, Guttenberg Z, Danser AHJ, Majoor-Krakauer D, Meijering E, van der Pluijm I, Essers J. Snelders M, et al. Among authors: de wagenaar np. Biomater Biosyst. 2022 Oct 17;8:100068. doi: 10.1016/j.bbiosy.2022.100068. eCollection 2022 Dec. Biomater Biosyst. 2022. PMID: 36824378 Free PMC article.
DNA sequence and chromatin modifiers cooperate to confer epigenetic bistability at imprinting control regions.
Butz S, Schmolka N, Karemaker ID, Villaseñor R, Schwarz I, Domcke S, Uijttewaal ECH, Jude J, Lienert F, Krebs AR, de Wagenaar NP, Bao X, Zuber J, Elling U, Schübeler D, Baubec T. Butz S, et al. Among authors: de wagenaar np. Nat Genet. 2022 Nov;54(11):1702-1710. doi: 10.1038/s41588-022-01210-z. Epub 2022 Nov 4. Nat Genet. 2022. PMID: 36333500 Free PMC article.
Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
Burger J, Bogunovic N, de Wagenaar NP, Liu H, van Vliet N, IJpma A, Maugeri A, Micha D, Verhagen HJM, Ten Hagen TLM, Majoor-Krakauer D, van der Pluijm I, Essers J, Yeung KK. Burger J, et al. Among authors: de wagenaar np. Hum Mol Genet. 2021 Nov 16;30(23):2286-2299. doi: 10.1093/hmg/ddab190. Hum Mol Genet. 2021. PMID: 34244757 Free PMC article.
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH. Oud MM, et al. Among authors: de wagenaar np. Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016. Cilia. 2016. PMID: 27069622 Free PMC article.