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

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

cGAS-IFN-I responses by extracting nuclear DNA from dying cells via nucleocytosis.

cGAS-IFN-I 通过核胞吞作用从垂死细胞中提取核 DNA 来产生反应。

Negishi Hideo, Wada Yusuke, Shirasaki Yoshitaka, Hayashi Tomoya, Kubota Yuji, Iwasaki Tomio, Kurosawa Mina, Ban Tatsuma, Muto Daisuke, Suenaga Yusuke, Kojima Taichi, Matsuda Yuzuki, Irish Sean Lord, Dodo Kosuke, Suzuki Toru, Yamagishi Mai, Temizoz Burcu, Yoshimori Atsushi, Kanai Chisato, Nagasaki Yoji, Ohmuraya Masaki, Tamura Tomohiko, Iwama Atsushi, Inada Toshifumi, Kuroda Etsushi, Kobiyama Kouji, Toyama-Sorimachi Noriko, Takekawa Mutsuhiro, Coban Cevayir, Ishii Ken J

Tumour specific HORMAD1 expression perturbs mitotic arrest and drives sensitivity to mitotic kinase inhibitors.

肿瘤特异性 HORMAD1 表达扰乱有丝分裂停滞,并导致对有丝分裂激酶抑制剂的敏感性。

Walker Callum, Kollarovic Gabriel, Weekes Daniel, Trendell Jennifer, Hoffmann Ricarda M, Martin Alexia, Ferro Riccardo, Navarro-Llinas Blanca, Hitchen Luke, Pardo Calvo Mercedes, Balan Nicolae, Kemp Harriet, Carroll Alexandra, Davidson Kathryn, Nath Sarmi, D'Uonno Nadja, Lu Ruifang, Starling Chris, Otten Marieke, Iakobachvili Nino, Marcozzi Chiara, Rahman Ilhan, Quist Jelmar, Yu Lu, Krastev Dragomir B, Amodeo Valeria, Roxanis Ioannis, Grigoriadis Anita, Bayliss Richard, Choudhary Jyoti, Haider Syed, Pines Jonathon, Pettitt Stephen J, Lord Christopher J, Tutt Andrew N J

Chromosomal instability shapes the tumor microenvironment of esophageal adenocarcinoma via a cGAS-chemokine-myeloid axis

染色体不稳定性通过cGAS-趋化因子-髓系轴塑造食管腺癌的肿瘤微环境。

Beernaert, Bruno; Jady-Clark, Rose L; Shah, Parin; Ramon-Gil, Erik; Lawson, Nora M; Brodtman, Zack D; Tagore, Somnath; Stihler, Frederik; Carter, Alfie S; Clarke, Shannique; Liu, Tong; Zhu, Winston M; Martin, Juliet E; Erdal, Erkin; Easton, Alistair; Campo, Leticia; Browne, Molly; Ash, Stephen; Raja, Rabial Q; Waddell, Nicola; Crosby, Tom; Lord, Simon R; Mann, Derek A; Melero, Ignacio; de Andrea, Carlos E; Tijhuis, Andréa E; Foijer, Floris; Hammond, Ester M; Akdemir, Kadir C; Leslie, Jack; Izar, Benjamin; Parkes, Eileen E

Human TET2-Mutant Clonal Hematopoiesis Expansion Is Driven by Distinct Inflammatory Signaling Responses in Stem Cells Versus Myeloid Progeny.

人类 TET2 突变克隆造血扩增是由干细胞与髓系子代细胞中不同的炎症信号反应驱动的。

Huerga Encabo Hector, D'Agostino Giuseppe, Sturgess Katherine, Lord Alice E, Jong Eric D, Ferrelli Alessandra, Sharma Aneesh, Mian Syed A, Habel Khadidja, Llorian-Sopena Miriam, Ramesh Amirtha Priya, Mohamad Nor Fatihah, Foissner Helene, Garcia-Albornoz Manuel, Graver Lynette, Papazoglou Despoina, Ngo Steven, Anjos-Afonso Fernando, Ariza-McNaughton Linda, Ficz Gabriella, Bonnet Dominique

Impact of supermarket fruit and vegetable placement on store sales, customer purchasing, diet and household waste: A prospective matched-controlled cluster trial

超市果蔬摆放位置对门店销售、顾客购买行为、饮食结构和家庭垃圾的影响:一项前瞻性配对对照整群试验

Vogel, Christina; Crozier, Sarah; Dhuria, Preeti; Lord, Joanne; Moon, Graham; Lawrence, Wendy; Cade, Janet; Ball, Kylie; Cooper, Cyrus; Baird, Janis

Economic Evaluation of Thymectomy for the Treatment of Nonthymomatous Myasthenia Gravis

胸腺切除术治疗非胸腺瘤型重症肌无力的经济评价

Lord, Joseph; Walton, Matthew; Murphy, Peter; Shepherd, Lucy; Wolfe, Gil I; Sussman, Jon; Cutter, Gary; Kaminski, Henry; Aban, Inmaculada; Hamedani, Ali G; Hodgson, Robert

635. Multi-staged Participatory Co-design of a Childhood Burns Manual for Village Health Teams in Ugandan Slums

635. 为乌干达贫民窟乡村卫生队开展儿童烧伤手册的多阶段参与式共同设计

Handoll, H H G; Huntley, J S; Madhok, R; Ávila Álvarez, Albert A; Figueroa, Jenny Carolina Paez; Tono, Martina Llinás; Pinzon, Diego Hernando Romero; Santos, Luz Adriana Caro; Aldana, Norberto Navarrete; Gómez, Gabriela Castro; Espinosa, Ludwin Ferney Rojas; Vazquez, Flavia E; Kopari, Nicole M; Ozhathil, Deepak K; Schneider, Rachel; Boyle, Jane; Galet, Colette; Mimoto, Nao; Wibbenmeyer, Lucy; Romanowski, Kathleen S; Tejiram, Shawn; Hill, David M; Savetamal, Alisa; Bhavsar, Dhaval; Priban, Kim; Paine, Rosemary E; Miotke, Sam; Higginson, Sara; Chin, Theresa L; Lacey, Alexandra M; Sarrazin, Patrice; Shearer, Mark; Jackson, Sydnee; Khani, Setareh; Sood, Rajiv S; Noordzij, Renee C; Tierney-Hendricks, Carla; Tenney-Laperriere, Diana L; Acton, Amy L; Sproul, Jill L; Deng, Huan; Kazis, Lewis E; Ryan, Colleen M; Slavin, Mary D; Schneider, Jeffrey C; Horrax, Erin; Lord, Tiffany N; Bowers, Elizabeth Allison; Harvey, Joe; Wang, Sarah; Adili, Amila; Pickering, Trevor A; Marincasiu, Carly; Roaten, Kimberly; Yenikomshian, Haig A; Gourishetti, Sravya; Ryan, Colleen M; Sheridan, Robert L; Schneider, Jeffrey C; Deng, Huan; Flores, Elizabeth; Roaten, Kimberly; Humbert, Andrew; Orton, Caitlin M; Kazis, Lewis E; Bennett, Lara; Chang, Philip H; Harris, Kathryn E; Herbert, Kevin; Khandelwal, Anjay; Fleck, Wayne A; Lou, Richard B; Wang, Sarah; Adili, Amila; Pickering, Trevor A; Marincasiu, Carly; Roaten, Kimberly; Yenikomshian, Haig A; McGwin, Madeleine; Ni, Pengsheng; McLaughlin, Sophia; McDonough, Agnes; Branski, Ludwik K; Palmieri, Tina L; Slavin, Mary D; Murphy, J Michael; Stoddard Jr, Frederick J; Schneider, Jeffrey C; Kazis, Lewis E; Ryan, Colleen M; Wang, Sarah; Pickering, Trevor A; Wiechman, Shelley A; Roaten, Kimberly; Ryan, Colleen M; McMullen, Kara; Yenikomshian, Haig A; Cheatham, Michael L; Martin, Melissa; Burger, Jessica Lyn; McDougall, Joany; Thew, Sasha; Usman, Moon; Dubina, Emily D; Sheets, Nicholas; Crombie, Roselle E; Gibson, Angela; Junak, Mary; Cheng, Lingxin; Liu, Aiping; Yan, Di; Kendziorski, Christina; Ahn, Michelle; Chang, Philip H; Deng, Huan; Frasco, Gregory; Morris, John T; Acton, Amy L; Tenney-Laperriere, Diana L; Slavin, Mary D; Kazis, Lewis E; Ryan, Colleen M; Schneider, Jeffrey C; Lord, Tiffany N; Feldman, Michael J; Carneal, Christy; Bowers, Elizabeth Allison; Wibbenmeyer, Lucy; Nygaard, Rachel M; Colonna, Emily; Faucher, Lee D; Poole, Alexander J; Paine, Rosemary E; Wiktor, Arek J; Lacey, Alexandra M; Fleming, Irma D; Colling, Kristin P; Sangji, Naveen F; Carson, Joshua S; Armour, Alexis; Carter, Damien W; Smith, Shannon L; Yelvington, Miranda L; Jordan, Lori; Griffin, Diana B; Galiano, Robert; Grinnell, Ryan; Rowan, Alexander; Nizamani, Rabia; Dillon, Dustin; Streetman, Daniel R; DeRegnaucourt, Alexa; Lee, Victoria; Hutchinson, Adam; Villegas, Andrew; Qazi, Uzair A; Little, Darby; Ho, George; Elloso, Margarita S; Shahrokhi, Shahriar; Mueller, Daniel R; McMillon, Joi A; Thakkar, Rajan K; Klingele, Nathaniel; McAdams, Rebecca J; Schwartz, Dana M; Fabia, Renata; McKenzie, Lara B; Rao, Dharani; Cooper, Michael L; McLaughlin, Sophia; Ni, Pengsheng; McGwin, Madeleine; McDonough, Agnes; Branski, Ludwik K; Palmieri, Tina L; Slavin, Mary D; Murphy, J Michael; Schneider, Jeffrey C; Kazis, Lewis E; Ryan, Colleen M; Hanrahan, Meredith; Rhodes, Lori; Anderson, Jeffrey; Wu, Jingwei; Matthys, Samuel A; Rowan, Alexander; Grinnell, Ryan; Goel, Vidhani; Chen, Brenna; Omidiji Jr., Lateef; Joshi, Avni; Jung, Shane; Martinez, Stephanie; Batra, Kavita; Nizamani, Rabia; Lee, Arianna P; Tamashiro, Kadee-Kalia; Waters, Katrina; Vue, Yeng; Kopari, Nicole M; Matheny, Maya; Ross, Erin E; Yenikomshian, Haig A; Pickering, Trevor A; Valencia, Connie; Orton, Caitlin M; Ryan, Colleen M; Stoycos, Sarah A; McMullen, Kara; Wiechman, Shelley A; Roaten, Kimberly; Orton, Caitlin M; Schneider, Jeffrey C; Nisavic, Mladen; Kazis, Lewis E; Yenikomshian, Haig A; Little, Darby; Yee, Elliott K; Haas, Barbara; Rosella, Laura; Postill, Gemma; Jaakkimainen, Liisa; Mason, Stephanie A; Jayaram, Anusha; Navindi, Dinasha D; Mesic, Aldina; Bista, Pariwesh Raj; Maharjan, Padma; Shrestha, Krishna; Yadav, Manish K; Rai, Shankar Man; Nakarmi, Kiran K; Stewart, Barclay T; Kaur, Simrat; Grobowski, Joseph; Orton, Caitlin M; Marincasiu, Carly; deGrauw, Xinyao; Wiechman, Shelley A; Carrougher, Gretchen J; Hodapp, Julie; Yenikomshian, Haig A; Kazis, Lewis E; Johnson, Maxwell B; Kowalske, Karen J; Pham, Tam N; Stewart, Barclay T; Haik, Josef; Rittblat, Mor; Kotovich, Dmitry; Katabi, Shiran; Rose, Adam J; Weirathmueller, Jakob; Bojic, Sandra; Weirathmueller, Jakob; Malic, Claudia C; Grobowski, Joseph; Morumganti, Aditi; Kaur, Simrat; Orton, Caitlin M; deGrauw, Xinyao; Qiu, Qian; Hodapp, Julie; Kazis, Lewis E; Johnson, Maxwell B; Kowalske, Karen J; Wiechman, Shelley A; Carrougher, Gretchen J; Pham, Tam N; Stewart, Barclay T; Dave, Dattesh R; Karlok, Morgan M C; Coward, Alexandra R; Williams, Felicia N; Chrisco, Lori; King, Booker; Hollowell, Jamie L; Leonard, Ginger E; Holmes, IV, James H; Mastropieri, Cynthia J; Craig, Christopher K; Nguyen, Thanh H; Anyamba, Assaf; Balbus, John; Chen, Kai; Dey, Sagnik; Franklin, Meredith; Fu, Tzung‐May; Gao, Meng; Jiang, Sunny; Liu, Yang; Paytan, Adina; Usmani, Moiz; Yim, Steve; Schneider, Daniel M; Ryan, Colleen M; Slavin, Mary D; Schneider, Jeffrey C; Deng, Huan; Kazis, Lewis E; Shupp, Jeffrey W; Griffin, Diana B; Galiano, Robert; Khorsandi, Joshua; Blank, Liahm; Alkhouri, Samir; Ahmed, Abu-Bakr; Cataldo, Kathryn; Kilcommons, Sebastian; Lee, Justin J; Manchikanti, Sharada; Wong, Joshua N; Armour, Alexis; Crombie, Roselle E; Witherel, Claire; Arnold, Yi; Ochtli, Che R; Zaky, Kim; Saquib, Syed F; Kumar, Snehal A; Teoh, Victoria; El Ayadi, Amina; Wolf, Steven E; Song, Juquan; Gurude, Varad; Jagwani, Pankaj; Sahu, Kamlesh; Ferguson, Andrew G; Barton, Alys; Gidwani, Shweta; Ssemugabo, Charles; Osuret, Jimmy; Tusiime, Marcia; Mazingi, Dennis; Piragauta, Alejandra; Attwood, Prasanthi; Peden, Margie; Brown, Julie

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

DIO3 coordinates photoreceptor development timing and fate stability in human retinal organoids

DIO3 协调人类视网膜类器官中感光细胞的发育时间和命运稳定性

McNerney, Christina; Santiago, Clayton P; Eldred, Kiara C; Glass, Ian; Reh, Tom A; Hernandez, Arturo; Blackshaw, Seth; Lord, Nathan D; Johnston, Robert J Jr