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

Dynamics of BCR::ABL1 transcript levels and clinical outcomes after switch to second-line therapy in pediatric chronic myeloid leukemia

儿童慢性粒细胞白血病二线治疗后BCR::ABL1转录水平的动态变化及临床结局

Sembill, Stephanie; Zerjatke, Thomas; Winterstein, Micha; Ghete, Tabita; Schirmer, Elke; Wotschofsky, Zofia; Suttorp, Meinolf; Krumbholz, Manuela; Karow, Axel; Glauche, Ingmar; Metzler, Markus

PolyA tail segmentation improves the stability of the template DNA and increases the translatability of in vitro transcribed mRNA

PolyA尾部分割可提高模板DNA的稳定性,并增加体外转录mRNA的翻译效率。

Spiewla, Tomasz; Czubak, Karol; Pilch, Zofia; Baranowski, Marek R; Krawczyk, Pawel S; Affek, Kamila; Antczak, Wiktor; Szulc-Gasiorowska, Marta; Chmielinski, Sebastian; Mroczek, Seweryn; Brouze, Michal; Nowis, Dominika; Golab, Jakub; Dziembowski, Andrzej; Jemielity, Jacek; Kowalska, Joanna

RoCi-a single-step multi-copy integration system based on rolling-circle replication

RoCi——一种基于滚动循环复制的单步多副本集成系统

Antsotegi-Uskola, Martzel; D'Ambrosio, Vasil; Mo, Brian King Himm; Jarczynska, Zofia Dorota; Vanegas, Katherina García; Morera-Gómez, Martí; Wang, Xinhui; Larsen, Thomas Ostenfeld; Mouillon, Jean-Marie; Mortensen, Uffe Hasbro

Exploring allomelanin: A comparative analysis via natural product extraction and synthesis

探索异黑素:基于天然产物提取和合成的比较分析

Aman, Sofia; Irie, Lauren M; Su, Shengyi; Siwicka, Zofia E; La Clair, James J; Kalaj, Brianna N; Latawiec, Elisabeth I; Karanjkar, Prachi; Wasielewski, Michael R; Dhinojwala, Ali; Burkart, Michael D; Farha, Omar K; Gianneschi, Nathan C

Fish and Zooplankton Co-Responses to Environmental Gradients Under Different Climate Change Scenarios

不同气候变化情景下鱼类和浮游动物对环境梯度的协同响应

Paquette, Cindy; Di Girolamo, Dario J; Pham, Jennifer; Ovaskainen, Otso; Gagné, Stéphanie; Leclerc, Véronique; Beisner, Beatrix E; Fugère, Vincent; Taranu, Zofia E

Hippocampal Cofilin and CFL1 gene variants are linked to Alcohol Use Disorder phenotypes

海马体 Cofilin 和 CFL1 基因变异与酒精使用障碍表型相关

Salamian, Ahmad; Pagano, Roberto; Skonieczna, Edyta; Kalinichenko, Liubov S; Puchalska, Monika; Yiğit Ünlü, G; Gajewska-Woźniak, Olga; Kruashvili, Lali; Grochowicz, Małgorzata; Wojtas, Bartosz; Gielniewski, Bartek; Harda, Zofia; Cały, Anna; Mühle, Christiane; Lenz, Bernd; Kornhuber, Johannes; Lourdusamy, Anbarasu; Havekes, Robbert; Abel, Ted; Müller, Christian P; Radwanska, Kasia

Inhibition of autoantigen-induced B-cell receptor (BCR) internalization as a therapeutic strategy in diffuse large B cell lymphoma (DLBCL)

抑制自身抗原诱导的B细胞受体(BCR)内化作为弥漫性大B细胞淋巴瘤(DLBCL)的治疗策略

Górniak, Patryk; Polak, Anna; Rams, Anna; Kupcova, Kristyna; Głodkowska-Mrówka, Eliza; Pilch, Zofia; Miączyńska, Marta; Nowis, Dominika; Gołąb, Jakub; Davis, R Eric; Havranek, Ondrej; Juszczyński, Przemysław

Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

EFACTS研究中,对弗里德赖希共济失调患者12年间非共济失调体征清单修订版的分析

Lischewski, Stella Andrea; Dogan, Imis; Giunti, Paola; Parkinson, Michael H; Mariotti, Caterina; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodríguez; Schöls, Ludger; Fleszar, Zofia; Klockgether, Thomas; Grobe-Einsler, Marcus; Giordano, Ilaria; Rai, Myriam; Pandolfo, Massimo; Jacobi, Heike; Hilgers, Ralf-Dieter; Schulz, Jörg B; Reetz, Kathrin

S100 proteins in IgA vasculitis and other systemic vasculitides - from pathogenic mechanisms to clinical biomarkers: a systematic review

IgA血管炎和其他系统性血管炎中的S100蛋白——从致病机制到临床生物标志物:系统性综述

Podraza, Zofia; Złotnik-Szwech, Emilia; Mizerska-Wasiak, Małgorzata