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Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L, Huetzen MA, Moreno-Andrés D, Kalb R, McKee S, Hsieh TC, Seibt A, Schouwink M, Lalani S, Faqeih EA, Brunet T, Boor P, Neveling K, Hoischen A, Hildebrandt B, Graf E, Lu L, Jin W, Schaper J, Omer JA, Demaret T, Fleischer N, Schindler D, Krawitz P, Mayatepek E, Wieczorek D, Wang LL, Antonin W, Jachimowicz RD, von Felbert V, Distelmaier F. Averdunk L, et al. Among authors: huetzen ma. Genet Med. 2023 Jul;25(7):100836. doi: 10.1016/j.gim.2023.100836. Epub 2023 Mar 31. Genet Med. 2023. PMID: 37013901 Free article.
Combined inhibition of EZH2 and ATM is synthetic lethal in BRCA1-deficient breast cancer.
Ratz L, Brambillasca C, Bartke L, Huetzen MA, Goergens J, Leidecker O, Jachimowicz RD, van de Ven M, Proost N, Siteur B, de Korte-Grimmerink R, Bouwman P, Pulver EM, de Bruijn R, Isensee J, Hucho T, Pandey G, van Lohuizen M, Mallmann P, Reinhardt HC, Jonkers J, Puppe J. Ratz L, et al. Among authors: huetzen ma. Breast Cancer Res. 2022 Jun 17;24(1):41. doi: 10.1186/s13058-022-01534-y. Breast Cancer Res. 2022. PMID: 35715861 Free PMC article.