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

A Reporter Platform to Study Therapy-Induced Senescence in Live Cancer Cells.

用于研究活癌细胞中治疗诱导衰老的报告基因平台。

van de Grint Jacinta, Huang Mengqi, Sangers Ruben, Odijk Hanny, Reuvers Thom, Heredia-Genestar Jose M, Raams Anja, Kan Tsung Wai, Pothof Joris, Kanaar Roland, Kuijten Maayke M P

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

双等位基因TARS突变与脆发表型相关

Theil, Arjan F; Botta, Elena; Raams, Anja; Smith, Desiree E C; Mendes, Marisa I; Caligiuri, Giuseppina; Giachetti, Sarah; Bione, Silvia; Carriero, Roberta; Liberi, Giordano; Zardoni, Luca; Swagemakers, Sigrid M A; Salomons, Gajja S; Sarasin, Alain; Lehmann, Alan; van der Spek, Peter J; Ogi, Tomoo; Hoeijmakers, Jan H J; Vermeulen, Wim; Orioli, Donata

Pollitt syndrome patients carry mutation in TTDN1

Pollitt综合征患者携带TTDN1基因突变

Swagemakers, Sigrid M A; Jaspers, Nicolaas G J; Raams, Anja; Heijsman, Daphne; Vermeulen, Wim; Troelstra, Christine; Kremer, Andreas; Lincoln, Stephen E; Tearle, Rick; Hoeijmakers, Jan H J; van der Spek, Peter J

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia

编码DNA修复内切酶XPF的ERCC4基因突变会导致范可尼贫血症。

Bogliolo, Massimo; Schuster, Beatrice; Stoepker, Chantal; Derkunt, Burak; Su, Yan; Raams, Anja; Trujillo, Juan P; Minguillón, Jordi; Ramírez, María J; Pujol, Roser; Casado, José A; Baños, Rocío; Rio, Paula; Knies, Kerstin; Zúñiga, Sheila; Benítez, Javier; Bueren, Juan A; Jaspers, Nicolaas G J; Schärer, Orlando D; de Winter, Johan P; Schindler, Detlev; Surrallés, Jordi

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

SMARCAL1 缺陷会导致非霍奇金淋巴瘤和体内对基因毒性物质的超敏反应

Baradaran-Heravi Alireza, Raams Anja, Lubieniecka Joanna, Cho Kyoung Sang, DeHaai Kristi A, Basiratnia Mitra, Mari Pierre-Olivier, Xue Yutong, Rauth Michael, Olney Ann Haskins, Shago Mary, Choi Kunho, Weksberg Rosanna A, Nowaczyk Malgorzata J M, Wang Weidong, Jaspers Nicolaas G J, Boerkoel Cornelius F

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

首例报道的人类ERCC1缺陷患者患有脑-眼-面-骨骼综合征,伴有轻度核苷酸切除修复缺陷和严重的生长发育障碍。

Jaspers, Nicolaas G J; Raams, Anja; Silengo, Margherita Cirillo; Wijgers, Nils; Niedernhofer, Laura J; Robinson, Andria Rasile; Giglia-Mari, Giuseppina; Hoogstraten, Deborah; Kleijer, Wim J; Hoeijmakers, Jan H J; Vermeulen, Wim