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

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

KDM2A基因的新生变异会导致综合征性神经发育障碍。

Anderson Eric N, Drukewitz Stephan, Kour Sukhleen, Chimata Anuradha V, Rajan Deepa S, Schönnagel Senta, Stals Karen L, Donnelly Deirdre, O'Sullivan Siobhan, Mantovani John F, Tan Tiong Y, Stark Zornitza, Zacher Pia, Chatron Nicolas, Monin Pauline, Drunat Severine, Vial Yoann, Latypova Xenia, Levy Jonathan, Verloes Alain, Carter Jennefer N, Bonner Devon E, Shankar Suma P, Bernstein Jonathan A, Cohen Julie S, Comi Anne, Carere Deanna Alexis, Dyer Lisa M, Mullegama Sureni V, Sanchez-Lara Pedro A, Grand Katheryn, Kim Hyung-Goo, Ben-Mahmoud Afif, Gospe Sidney M Jr, Belles Rebecca S, Bellus Gary, Lichtenbelt Klaske D, Oegema Renske, Rauch Anita, Ivanovski Ivan, Mau-Them Frederic Tran, Garde Aurore, Rabin Rachel, Pappas John, Bley Annette E, Bredow Janna, Wagner Timo, Decker Eva, Bergmann Carsten, Domenach Louis, Margot Henri, Lemke Johannes R, Abou Jamra Rami, Hentschel Julia, Mefford Heather, Singh Amit, Pandey Udai Bhan, Platzer Konrad

Loss of NKCC1 Activates the NLRP3 Inflammasome in Intestinal Epithelia.

NKCC1 的缺失会激活肠上皮细胞中的 NLRP3 炎症小体。

Koumangoye Rainelli B, Ferdaus Mohammed Z, Davis Xenia, Bohannon Julia K, Delpire Eric

Elevated lactate in AML bone marrow contributes to macrophage polarization via GPR81 signaling

急性髓系白血病骨髓中乳酸水平升高通过GPR81信号通路促进巨噬细胞极化。

Soto, Celia A; Lesch, Maggie L; Becker, Jennifer L; Sharipol, Azmeer; Khan, Amal; Schafer, Xenia L; Li, Zhewen; Streeter, Amanda R; Becker, Michael W; Munger, Joshua C; Frisch, Benjamin J

Monophosphoryl lipid A boosts macrophage antimicrobial immunity by metabolically regulating source-specific ROS generation

单磷酰脂质A通过代谢调节来源特异性活性氧(ROS)的产生,增强巨噬细胞的抗菌免疫力。

Hao, Dan; Klein, Benjamin D; McBride, Margaret A; Bohannon, Julia K; Patil, Naeem K; Davis, Xenia D; Oliver, Mary A; Dye, Mei Lin Ning; Weidenbach, Sara; Young, Jamey D; Sherwood, Edward R

The persisting presence of absence in female sex development: a critical interdisciplinary reflection

女性性发育中持续存在的缺失:一项重要的跨学科反思

Stammberger, Birgit; Steinbach, Xenia; Hornig, Nadine

Western Diet-Induced Impairment of Left Atrium Cardiomyocyte Contractility in Female Wistar Rats Is Associated with Slowdown in the Cross-Bridge Cycle and Dephosphorylation of cMyBP-C.

西方饮食引起的雌性 Wistar 大鼠左心房心肌细胞收缩力受损与横桥循环减慢和 cMyBP-C 去磷酸化有关。

Mukhlynina Elena, Butova Xenia, Myachina Tatiana, Simonova Raisa, Antonets Yulia, Leiberova Anna, Kochurova Anastasia, Gusarova Evgeniya, Chumarnaya Tatiana, Kopylova Galina, Shchepkin Daniil

mGem: Faecalibacterium, an important protector of gut health

mGem:粪杆菌,肠道健康的重要保护者

Sabater, Carlos; Vázquez, Xenia; Duncan, Sylvia H

Daptomycin-Loaded Nanocarriers Facilitate Synergistic Killing of Methicillin-Resistant Staphylococcus aureus via Lipid-Mediated Interactions and Targeting

载有达托霉素的纳米载体通过脂质介导的相互作用和靶向作用促进对耐甲氧西林金黄色葡萄球菌的协同杀灭

Jiang, Jhih-Hang; Lim, Chia Xin; Lai, Xiangfeng; Kostoulias, Xenia; Morris, Faye C; Le Brun, Anton P; Wu, Chun-Ming; Yepuri, Nageshwar R; Shen, Hsin-Hui; Peleg, Anton Y

How we should measure orthographic depth: Or should we?

我们应该如何测量正字法深度?或者我们应该测量吗?

Schmalz, Xenia; Rueckl, Jay G; Siegelman, Noam