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

Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria

活性氧应激会增加线粒体内酪氨酰-DNA磷酸二酯酶1的积累

Fam, Hok Khim; Choi, Kunho; Fougner, Lauren; Lim, Chinten James; Boerkoel, Cornelius F

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Wnt 和 Notch 信号增强:这是 Schimke 免疫骨发育不良肾脏疾病的线索吗?

Morimoto, Marie; Myung, Clara; Beirnes, Kimberly; Choi, Kunho; Asakura, Yumi; Bokenkamp, Arend; Bonneau, Dominique; Brugnara, Milena; Charrow, Joel; Colin, Estelle; Davis, Amira; Deschenes, Georges; Gentile, Mattia; Giordano, Mario; Gormley, Andrew K; Govender, Rajeshree; Joseph, Mark; Keller, Kory; Lerut, Evelyne; Levtchenko, Elena; Massella, Laura; Mayfield, Christy; Najafian, Behzad; Parham, David; Spranger, Jurgen; Stenzel, Peter; Yis, Uluc; Yu, Zhongxin; Zonana, Jonathan; Hendson, Glenda; Boerkoel, Cornelius F

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

去甲基胆固醇沉积症:胆固醇合成障碍诊断模糊性的一个例证

Dias, Cristina; Rupps, Rosemarie; Millar, Benjamin; Choi, Kunho; Marra, Marco; Demos, Michelle; Kratz, Lisa E; Boerkoel, Cornelius F

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

双等位基因 SMARCAL1 突变的穿透率与基因表达的环境和遗传紊乱有关

Baradaran-Heravi Alireza, Cho Kyoung Sang, Tolhuis Bas, Sanyal Mrinmoy, Morozova Olena, Morimoto Marie, Elizondo Leah I, Bridgewater Darren, Lubieniecka Joanna, Beirnes Kimberly, Myung Clara, Leung Danny, Fam Hok Khim, Choi Kunho, Huang Yan, Dionis Kira Y, Zonana Jonathan, Keller Kory, Stenzel Peter, Mayfield Christy, Lücke Thomas, Bokenkamp Arend, Marra Marco A, van Lohuizen Maarten, Lewis David B, Shaw Chad, Boerkoel Cornelius F

Genome-wide microarray comparison reveals downstream genes of Pax6 in the developing mouse cerebellum

全基因组微阵列比较揭示了小鼠小脑发育过程中 Pax6 的下游基因

Ha, Thomas J; Swanson, Douglas J; Kirova, Roumyana; Yeung, Joanna; Choi, Kunho; Tong, Yiai; Chesler, Elissa J; Goldowitz, Daniel

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

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

伴有轴突神经病变的脊髓小脑性共济失调:是Tdp1隐性新突变的后果吗?

Hirano, Ryuki; Interthal, Heidrun; Huang, Cheng; Nakamura, Tomonori; Deguchi, Kimiko; Choi, Kunho; Bhattacharjee, Meenakshi B; Arimura, Kimiyoshi; Umehara, Fujio; Izumo, Shuji; Northrop, Jennifer L; Salih, Mustafa A M; Inoue, Ken; Armstrong, Dawna L; Champoux, James J; Takashima, Hiroshi; Boerkoel, Cornelius F