日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling.

STAG2 截短变体揭示了 STAG2 的嵌合失活模式和涉及黏连蛋白复合物重塑的补偿机制。

Moronta Gines Macarena, Wessels Marja W, Casa Valentina, van Staveren Thomas, Hof Amber, Chung Wendy K, Willems Marjolaine, Sandestig Anna, Huening Irina, Turnpenny Peter, Lefebvre Mathilde, Parenti Ilaria, Kaiser Frank J, Demmers Jeroen, van Ijcken Wilfred F J, Wendt Kerstin S

Cohesin complex-associated holoprosencephaly

黏连蛋白复合物相关全前脑畸形

Kruszka, Paul; Berger, Seth I; Casa, Valentina; Dekker, Mike R; Gaesser, Jenna; Weiss, Karin; Martinez, Ariel F; Murdock, David R; Louie, Raymond J; Prijoles, Eloise J; Lichty, Angie W; Brouwer, Oebele F; Zonneveld-Huijssoon, Evelien; Stephan, Mark J; Hogue, Jacob; Hu, Ping; Tanima-Nagai, Momoko; Everson, Joshua L; Prasad, Chitra; Cereda, Anna; Iascone, Maria; Schreiber, Allison; Zurcher, Vickie; Corsten-Janssen, Nicole; Escobar, Luis; Clegg, Nancy J; Delgado, Mauricio R; Hajirnis, Omkar; Balasubramanian, Meena; Kayserili, Hülya; Deardorff, Matthew; Poot, Raymond A; Wendt, Kerstin S; Lipinski, Robert J; Muenke, Maximilian

A novel molecular mechanism in human genetic disease: a DNA repeat-derived lncRNA

人类遗传疾病中的一种新型分子机制:DNA重复序列衍生的长链非编码RNA

Cabianca, Daphne S; Casa, Valentina; Gabellini, Davide

A repetitive elements perspective in Polycomb epigenetics

Polycomb表观遗传学中的重复元素视角

Casa, Valentina; Gabellini, Davide

Recognition of 5-hydroxymethylcytosine by the Uhrf1 SRA domain.

Uhrf1 SRA 结构域对 5-羟甲基胞嘧啶的识别

Frauer Carina, Hoffmann Thomas, Bultmann Sebastian, Casa Valentina, Cardoso M Cristina, Antes Iris, Leonhardt Heinrich