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

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

Vascular Endothelial Growth Factor-D Improves Lung Vascular Integrity During Acute Lung Injury.

血管内皮生长因子-D可改善急性肺损伤期间的肺血管完整性。

Yoon Yongdae, Sharma Lokesh, Tang Wenwen, Kirk Shannon, Raredon Micha Sam Brickman, Ahangari Farida, Khoury Johad, Qian Hong, Ke Yunbo, Tulapurkar Mohan, Liu Ruya, Luan Yi, Yuan Qianying, Chen Lujia, Birukov Konstantin, Simons Michael, Wu Dianqing, Niklason Laura E, Kaminski Naftali, Yuan Yifan

TWIST1 drives endothelial-to-mesenchymal-transition to stabilize atherosclerotic plaques.

TWIST1 驱动内皮细胞向间质细胞转化,从而稳定动脉粥样硬化斑块。

Tardajos Ayllon Blanca, Diagbouga Mannekomba, Das Ankita, Tian Siyu, Edsfeldt Andreas, Kalucka Joanna, Serbanovic-Canic Jovana, Chambers Emily, Sun Jiangming, Gialeli Chrysostomi, Dunning Mark, Francis Sheila E, Li Xiuying, Mammoto Akiko, Simons Michael, Jørgensen Helle F, Goncalves Isabel, Xu Suowen, Evans Paul C

Designing Scalable Mechano-Virucidal Nanostructured Acrylic Surfaces for Enhanced Viral Inactivation

设计可扩展的机械杀病毒纳米结构丙烯酸表面以增强病毒灭活效果

Mah, Samson W L; Linklater, Denver P; Tzanov, Vassil; Dekiwadia, Chaitali; Rubanov, Sergey; Le, Phuc H; Tafakori, Laleh; Simons, Ranya; Moad, Graeme; Saita, Soichiro; Yanagishita, Takashi; Masuda, Hideki; Baulin, Vladimir; Borg, Natalie A; Ivanova, Elena P

Targeting Interactions Between Siglec-10 and α3β1 Integrin Enhances Macrophage-Mediated Phagocytosis of Pancreatic Cancer

靶向Siglec-10与α3β1整合素之间的相互作用可增强巨噬细胞介导的胰腺癌吞噬作用

Pratima Saini,Gauri Mirji,S M Shamsul Islam,Lacy M Simons,Sajad Ahmad Bhat,Amanda P Bonfanti,Kar Muthumani,Priyesh Agrawal,Joel Cassel,Hsin-Yao Tang,Hiroaki Tateno,Rugang Zhang,Judd F Hultquist,Rahul S Shinde,Mohamed Abdel-Mohsen

Ultraprocessed Food Consumption and Behavioral Outcomes in Canadian Children

加拿大儿童超加工食品消费与行为结果

Kavanagh, Meaghan E; Chen, Zheng Hao; Tamana, Sukhpreet K; Moraes, Theo J; Simons, Elinor; Turvey, Stuart E; Subbarao, Padmaja; Mandhane, Piushkumar J; Miliku, Kozeta

Objective assessment of long-term impact of COVID-19 on multiple sensory functions

客观评估新冠肺炎对多种感觉功能的长期影响

Odeh, Ahmad; Formanek, Veronica L; Smith, Christina; Jha, Nidhi; Tajino, Junichi; Lewis, Jessica H; Gastineau, Lauren; Patel, Shivani; Zhao, Songzhu; Wei, Lai; Moberly, Aaron C; Merfeld, Daniel M; Simons, Christopher T; Kobel, Megan J; Zhao, Kai

A fibroblast-like endothelial cell state promotes atherosclerosis via C/EBPβ-activated TGF-β signaling.

成纤维细胞样内皮细胞状态通过 C/EBPβ 激活的 TGF-β 信号传导促进动脉粥样硬化。

Fan Linge, Zhu Yingyi, Li Yi, Ji Zixin, Ma Kefan, Zhang Ying, Wei Leiting, Chen Junbo, Jiang Yuanqing, Lai Dongwu, Qin Lingfeng, Fu Guosheng, Simons Michael, Xu Liang, Yu Luyang, Qiu Cong

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline