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

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

Modelling synaptic dysfunction in childhood dementia using human iPSC-derived cortical networks

利用人类iPSC衍生的皮层网络模拟儿童痴呆症中的突触功能障碍

Mazzachi, Paris; McDonald, Ella; Greenberg, Zarina; Puerta, Alejandra Noreña; Tran, Jenne; De Silva, Manam Inushi; Christensen, Cade; Adams, Robert; Loskarn, Sebastian; Beard, Helen; Zabolocki, Michael; Elmasri, Meera; Maack, Megan; Elvidge, Kristina L; Hutchinson, Mark R; O'Neill, Cara; Hemsley, Kim M; Melton, Lisa; Smith, Nicholas; Bardy, Cedric

Vaccine-induced antibodies can limit Salmonella infection in the absence of complement or macrophages

疫苗诱导产生的抗体可以在没有补体或巨噬细胞的情况下限制沙门氏菌感染。

Perez-Toledo, Marisol; Aksu-Istil, Kubra; Marcial-Juarez, Edith; Persaud, Ruby R; Alshayea, Areej; Jossi, Sian E; Carestia, Agostina; von Meijenfeld, Fien; Botto, Marina; James, Leo C; Surewaard, Bas; Afzal, Zaheer; Shields, Adrian M; Horsnell, William G; Lopez-Macias, Constantino; Henderson, Ian R; Jenne, Craig N; Cunningham, Adam F

Cystatin C prevents tissue injury after lung transplantation.

胱抑素C可预防肺移植后的组织损伤。

Verma Henu Kumar, Morrone Carmela, Rehm Salome Rt, Jeridi Aicha, Smirnova Natalia F, Doryab Ali, Weiß Stefanie Ai, Dashkevich Alexey, Schmid Otmar, Mümmler Carlo, Gerckens Michael, Conlon Thomas M, Hecker Matthias, Kneidinger Nikolaus, Jenne Dieter E, Yildirim Ali Önder

The Role of B Cells and Antibodies in Eosinophilic Esophagitis

B细胞和抗体在嗜酸性食管炎中的作用

Bel Imam, Manal; Du, Hang; Ardicli, Özge; Meinema, Jenne; van de Veen, Willem

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Discrete and conserved inflammatory signatures drive thrombosis in different organs after Salmonella infection

沙门氏菌感染后,不同器官中血栓形成是由离散且保守的炎症特征驱动的。

Marisol Perez-Toledo # ,Nonantzin Beristain-Covarrubias # ,Jamie Pillaye ,Ruby R Persaud ,Edith Marcial-Juarez ,Sian E Jossi ,Jessica R Hitchcock ,Areej Alshayea ,William M Channell ,Niek T J Wiersma ,Rachel E Lamerton ,Dean P Kavanagh ,Agostina Carestia ,William G Horsnell ,Ian R Henderson ,Nigel Mackman ,Andrew R Clark ,Craig N Jenne ,Julie Rayes ,Steve P Watson ,Adam F Cunningham

The spleen tyrosine kinase inhibitor entospletinib resolves inflammation to promote repair following acute kidney injury.

脾酪氨酸激酶抑制剂entospletinib可消除炎症,促进急性肾损伤后的修复

Elias Esteban E, Lau Arthur, Belay Sisay Getie, Derakhshani Afshin, Andonegui Graciela, Jenne Craig N, Dufour Antoine, Bracey Nathan A, Chun Justin, Muruve Daniel A

Unspoken words: decoding the dialog between type 2 innate lymphoid cells and T cells

无声的对话:解码2型固有淋巴细胞与T细胞之间的对话

Ikra, Zahra Jamila; Huang, Qiutong; Yu, Huiyang; Belz, Gabrielle T; Jenne, Craig N; Jacquelot, Nicolas

Empowering High Throughput Screening of 3D Models: Automated Dispensing of Cervical and Endometrial Cancer Cells.

实现 3D 模型的高通量筛选:宫颈癌和子宫内膜癌细胞的自动分配

Seymour Samantha, Cadena Ines, Johnson Mackenzie, Thakkar Riya, Jenne Molly, Adem Iman, Almer Alyssa, Frankovic Rachael, Spence Danielle, Haddadin Andrea, Fogg Kaitlin C