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

Citrate clearance is a major function of aconitase 2 in the canonical TCA cycle.

柠檬酸清除是经典 TCA 循环中乌头酸酶 2 的主要功能。

Xie Abigail, Brunner Julia S, Chakraborty Sangita, Montero Angela M, Bridgeman Anna E, Paras Katrina I, Cui Ruobing, Fagoaga-Eugui Maider, Komza Monika, Arnold Paige K, Jackson Benjamin T, Noriega Madrazo Santiago, Atmane Mohamed I, Carrasco Sebastian E, Finley Lydia W S

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

对 44,028 名具有高纯合性的英国南亚裔人群进行外显子组测序和分析

Kim, Hye In; DeBoever, Christopher; Walter, Klaudia; Kalantzis, Georgios; Li, Chen; Mozaffari, Sahar V; Kundu, Kousik; Jacobs, Benjamin M; Mohammadi-Shemirani, Pedrum; Musolf, Anthony M; Davitte, Jonathan M; Aksit, Melis A; Gafton, Joseph; Catalano, Katrina A; Dawed, Adem Y; Graham, Robert R; Guo, Bin; Gupta, Namrata; Heng, Teng Hiang; Hunt, Karen A; Iyer, Vivek; Langenberg, Claudia; Lassen, Frederik H; MacArthur, Daniel G; Maher, Eamonn R; Maroteau, Cyrielle; Newman, William G; O'Rahilly, Stephen; Palmer, Duncan S; Popov, Iaroslav; Siddiqui, Moneeza K; Simpson, Michael A; Spreckley, Marie; Wright, John; Del Angel, Guillermo; Petrovski, Slavé; Holzinger, Emily R; Maranville, Joseph C; Addis, Laura; Turner, Richard M; Estrada, Karol; Longerich, Simone; Howson, Joanna M M; Jamshidi, Yalda; Fauman, Eric B; Miller, Melissa R; Diogo, Dorothée; Trembath, Richard C; Finer, Sarah; Martin, Hilary C; van Heel, David A

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

p53 increases phospholipid headgroup scavenging in senescence

p53在衰老过程中增加磷脂头部基团的清除

Jossie J Yashinskie #,Xianbing Zhu #,Grace H McGregor,Karl A Wessendorf-Rodriguez,Katrina Paras,Julia S Brunner,Benjamin T Jackson,Abigail Xie,Richard Koche,Christian M Metallo,Lydia W S Finley

Aspartate availability drives differential engagement of the malate-aspartate shuttle.

天冬氨酸的可用性决定了苹果酸-天冬氨酸穿梭的参与程度。

Brunner Julia S, Bridgeman Anna E, Jackson Benjamin T, Chakraborty Sangita, Fagoaga-Eugui Maider, Paras Katrina I, Xie Abigail, Arnold Paige K, Losner Julia, Finley Lydia W S

Control of retrotransposon-driven activation of the interferon response by the double-stranded RNA binding protein DGCR8.

双链RNA结合蛋白DGCR8控制逆转录转座子驱动的干扰素反应激活。

Gázquez-Gutiérrez Ana, Chin Priscilla, Peris Guillermo, Gordon Katrina, Marchante Pilar G, Witteveldt Jeroen, Tristán-Ramos Pablo, Rouvière Jerome O, Knol Lisanne I, Ivens Alasdair, López-Onieva Lourdes, Estévez Antonio M, Garland William, Jensen Torben H, Heras Sara R, Macias Sara

Macrophage-to-myofibroblast transition (MMT) - An adverse response to polypropylene mesh implanted for pelvic organ prolapse repair surgery in a non-human primate model.

巨噬细胞向肌成纤维细胞转变(MMT)——在非人灵长类动物模型中,对用于盆腔器官脱垂修复手术植入的聚丙烯网片的不良反应。

Therriault Marrisa A, Knight Katrina, Kottapalli Srividya, Obisesan Temitope, Harinath Malini, Brown Bryan N, Moalli Pamela A

Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy.

能量代谢紊乱与常染色体显性遗传性视神经萎缩中的视网膜神经节细胞变性有关。

Kang Eugene Yu-Chuan, Tseng Yun-Ju, Peng Wei-Hao, Hung Hui-Chuan, Lin Pei-Hsuan, Montales Katrina P, Sherman Emmet, Peregrin John, Wang Ethan Hunghsi, Kang Chunya, Teng Yu-Chuan, Huang Chen-Yang, Tsai Chia-Lung, Chang Ian Yi-Feng, Chen Jiazhang, Tezel Gülgün, He Ye, Li Tai-De, Stiles Linsey, Shirihai Orian, Tsang Stephen H, Lai Chi-Chun, Tsai Chi-Neu, Lin Chyuan-Sheng, Wang Nan-Kai

Atopic Dermatitis and Markers of Early Cardiovascular Risk in Children and Adolescents

儿童和青少年特应性皮炎与早期心血管风险标志物

Ye, Morgan; McCulloch, Charles E; Iribarren, Carlos; Langan, Sinéad M; Abuabara, Katrina