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

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft

剪接体复合体基因 SNRNP200、SF3B1、SF3B2 和 SF3B4 中可能致病/致病性变异与非综合征性口面裂有关

Ranji, Peyman; Pairet, Eleonore; Helaers, Raphael; Brouillard, Pascal; Bayet, Bénédicte; Gerdom, Alexander; Revencu, Nicole; Vikkula, Miikka

Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia

剪接缺陷和细胞死亡导致SF3B2相关颅面短小症

Rao, S; Watt, K E N; Maili, L; Lamb, M; Farrow, E; Hassan, H; Weaver, K; Miller, B; Dash, S; Cox, L L; Gallacher, L; Kant, S G; Gibson, M; Pastinen, T; Li, D; Bhoj, E J K; Zhu, H; Zhang, J; Zhang, Y-B; Tan, T Y; Trainor, P A; Cox, T C

Identification of cervical cancer stem cells using single-cell transcriptomes of normal cervix, cervical premalignant lesions, and cervical cancer

利用正常宫颈、宫颈癌前病变和宫颈癌的单细胞转录组鉴定宫颈癌干细胞

Tao Zhang, Liang Zhuang, Munawaer Muaibati, Dan Wang, Abuduyilimu Abasi, Qing Tong, Ding Ma, Lei Jin, Xiaoyuan Huang

Haploinsufficiency of SF3B2 causes craniofacial microsomia

SF3B2单倍体不足导致颅面短小症

Timberlake, Andrew T; Griffin, Casey; Heike, Carrie L; Hing, Anne V; Cunningham, Michael L; Chitayat, David; Davis, Mark R; Doust, Soghra J; Drake, Amelia F; Duenas-Roque, Milagros M; Goldblatt, Jack; Gustafson, Jonas A; Hurtado-Villa, Paula; Johns, Alexis; Karp, Natalya; Laing, Nigel G; Magee, Leanne; Mullegama, Sureni V; Pachajoa, Harry; Porras-Hurtado, Gloria L; Schnur, Rhonda E; Slee, Jennie; Singer, Steven L; Staffenberg, David A; Timms, Andrew E; Wise, Cheryl A; Zarante, Ignacio; Saint-Jeannet, Jean-Pierre; Luquetti, Daniela V

PRMT9 is a type II methyltransferase that methylates the splicing factor SAP145

PRMT9 是一种 II 型甲基转移酶,可甲基化剪接因子 SAP145

Yanzhong Yang, Andrea Hadjikyriacou, Zheng Xia, Sitaram Gayatri, Daehoon Kim, Cecilia Zurita-Lopez, Ryan Kelly, Ailan Guo, Wei Li, Steven G Clarke, Mark T Bedford

Unique Features of Human Protein Arginine Methyltransferase 9 (PRMT9) and Its Substrate RNA Splicing Factor SF3B2

人类蛋白质精氨酸甲基转移酶 9 (PRMT9) 及其底物 RNA 剪接因子 SF3B2 的独特特征

Andrea Hadjikyriacou ,Yanzhong Yang ,Alexsandra Espejo ,Mark T Bedford ,Steven G Clarke