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

Loss of function variants in the primate-specific gene ZNF808 cause neonatal, transient and adult-onset diabetes

灵长类特异性基因 ZNF808 的功能缺失变异会导致新生儿糖尿病、暂时性糖尿病和成人发病型糖尿病。

Russ-Silsby, James; Colclough, Kevin; Johnson, Matthew B; Wakeling, Matthew N; Owens, Nick D L; Amaratunga, Shenali A; Flanagan, Sarah E; Patel, Kashyap A; Hattersley, Andrew T; De Franco, Elisa

Nup107 contributes to the maternal-to-zygotic transition by preventing the premature nuclear export of pri-miR427

Nup107 通过阻止 pri-miR427 的过早核输出,促进了母体向合子的转变

Valentyna Kostiuk, Rakib Kabir, Kaitlin Levangie, Stefany Empke, Kimberly Morgan, Nick D L Owens, C Patrick Lusk, Mustafa K Khokha

Genetic links between ovarian ageing, cancer risk and de novo mutation rates

卵巢衰老、癌症风险和新生突变率之间的遗传联系

Stankovic, Stasa; Shekari, Saleh; Huang, Qin Qin; Gardner, Eugene J; Ivarsdottir, Erna V; Owens, Nick D L; Mavaddat, Nasim; Azad, Ajuna; Hawkes, Gareth; Kentistou, Katherine A; Beaumont, Robin N; Day, Felix R; Zhao, Yajie; Jonsson, Hakon; Rafnar, Thorunn; Tragante, Vinicius; Sveinbjornsson, Gardar; Oddsson, Asmundur; Styrkarsdottir, Unnur; Gudmundsson, Julius; Stacey, Simon N; Gudbjartsson, Daniel F; Kennedy, Kitale; Wood, Andrew R; Weedon, Michael N; Ong, Ken K; Wright, Caroline F; Hoffmann, Eva R; Sulem, Patrick; Hurles, Matthew E; Ruth, Katherine S; Martin, Hilary C; Stefansson, Kari; Perry, John R B; Murray, Anna

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

20号染色体短臂11.2区缺失导致FOXA2或其调控元件丢失,从而引起先天性高胰岛素血症。

Laver, Thomas W; Wakeling, Matthew N; Caswell, Richard C; Bunce, Benjamin; Yau, Daphne; Männistö, Jonna M E; Houghton, Jayne A L; Hopkins, Jasmin J; Weedon, Michael N; Saraff, Vrinda; Kershaw, Melanie; Honey, Engela M; Murphy, Nuala; Giri, Dinesh; Nath, Stuart; Tangari Saredo, Ana; Banerjee, Indraneel; Hussain, Khalid; Owens, Nick D L; Flanagan, Sarah E

Developmentally dynamic changes in DNA methylation in the human pancreas

人类胰腺DNA甲基化的发育动态变化

MacCalman, Ailsa; De Franco, Elisa; Franklin, Alice; Flaxman, Christine S; Richardson, Sarah J; Murrall, Kathryn; Burrage, Joe; Walker, Emma M; Morgan, Noel G; Hattersley, Andrew T; Dempster, Emma L; Hannon, Eilis; Jeffries, Aaron R; Owens, Nick D L; Mill, Jonathan

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

非编码变异破坏 HK1 中的组织特异性调控元件,导致先天性高胰岛素血症

Matthew N Wakeling #, Nick D L Owens #, Jessica R Hopkinson, Matthew B Johnson, Jayne A L Houghton, Antonia Dastamani, Christine S Flaxman, Rebecca C Wyatt, Thomas I Hewat, Jasmin J Hopkins, Thomas W Laver, Rachel van Heugten, Michael N Weedon, Elisa De Franco, Kashyap A Patel, Sian Ellard, Noel G M

Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR

膜电位通过钙和 mTOR 驱动多能性退出和细胞命运决定

Emily Sempou, Valentyna Kostiuk, Jie Zhu, M Cecilia Guerra, Leonid Tyan, Woong Hwang, Elena Camacho-Aguilar, Michael J Caplan, David Zenisek, Aryeh Warmflash, Nick D L Owens, Mustafa K Khokha

Chromatin accessibility and transcription factor binding through the perspective of mitosis

从有丝分裂的角度看染色质可及性和转录因子结合

Coux, Rémi-Xavier; Owens, Nick D L; Navarro, Pablo

Maternal pluripotency factors initiate extensive chromatin remodelling to predefine first response to inductive signals

母体多能性因子启动广泛的染色质重塑,从而预先决定对诱导信号的首次反应。

George E Gentsch ,Thomas Spruce ,Nick D L Owens ,James C Smith

The Spatiotemporal Control of Zygotic Genome Activation

合子基因组激活的时空控制

George E Gentsch, Nick D L Owens, James C Smith