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

Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.

VPS18 基因突变会导致中性粒细胞成熟缺陷,并伴有囊泡稳态紊乱。

Gao Jincheng, Bader Almke, Linder Monika I, Cheng Jingyuan, Richter Mathis, da Costa Raul, Zehrer Annette, Mitt Karl, Popper Bastian, Meissner Felix, Wei Xiang, de Vega Gómez Enrique, Tatematsu Megumi, Rohlfs Meino, Frenz-Wiessner Stephanie, Kiziltug Mehmet, Somekh Ido, Yacobovich Joanne, Steinberg-Shemer Orna, Somech Raz, Soehnlein Oliver, Schmid Bettina, Klein Christoph, Walzog Barbara, Maier-Begandt Daniela

Micrometastasis-derived models enable drug testing for early-stage, high-risk melanoma patients.

微转移衍生模型可用于对早期高危黑色素瘤患者进行药物测试。

Weidele Kathrin, Werno Christian, Treitschke Steffi, Botteron Catherine, Hoffmann Martin, Scheitler Sebastian, Wöhrl Lukas, Czyz Zbigniew, Feliciello Giancarlo, Weber Florian, Ravikumar Varadarajan Adithi, Warfsmann Jens, Materna-Reichelt Silvia, Katzer Marie, Schreieder Laura, Mohammadi Parvaneh, Hosseini Hedayatollah, Honarnejad Kamran, Haferkamp Sebastian, Werner-Klein Melanie, Klein Christoph A

The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants

安纳托利亚中部一家三级参考中心在携带 ZAP-70 变异体(包括两种新变异体)的儿童中的经验

Göktaş, Serdar; Kalaycik Sengul, Ozlem; Erdem, Şerife; Eke Güngör, Hatice; Babayeva, Royala; Bilgic-Eltan, Sevgi; Güzel, Turan; Dörterler, Koray; Rohlfs, Meino; Özcan, Alper; Yilmaz, Ebru; Karakukcu, Musa; Akar, Haluk Himmet; Karakoc-Aydiner, Elif; Özen, Ahmet; Elmas, Muhsin; Patiroğlu, Türkan; Doğan, Muhammet E; Baş, Hasan; Taylor, Naomi; Baris, Safa; Klein, Christoph; Eken, Ahmet; Ünal, Ekrem

A Collection of Patient-Derived Intestinal Organoid Lines Reveals Epithelial Phenotypes Associated with Genetic Drivers of Pediatric Inflammatory Bowel Disease.

一系列患者来源的肠道类器官系揭示了与儿童炎症性肠病遗传驱动因素相关的上皮表型。

Shojaei Jeshvaghani Zahra, Argmann Carmen, de Vries Maaike H, van Es Johan H, Collen Lauren V, Kotlarz Daniel, Sveen Mia, Comella Phillip H, Snapper Scott B, Klein Christoph, Schadt Eric E, Clevers Hans, Mokry Michal, Kuijk Ewart, Nieuwenhuis Edward

Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia.

显性负性 PSMB10 会破坏免疫蛋白酶体的组装,导致短暂性 T 淋巴细胞减少症。

Ghosh Sujal, Wang Yuqin, Schultheiss Christoph, Borkhardt Arndt, Dafun Angelique Sanchez, Knipp Liisa, Marwitz Sebastian, Ehl Stephan, Soulard Clara, Haddad Elie, Dey Debayan, Evans Grace, Golwala Zainab M, Bennstein Sabrina B, Laws Hans-Jürgen, Rohlfs Meino, Magg Thomas, Binder Mascha, Kreins Alexandra Y, Bousquet Marie-Pierre, Marcoux Julien, Klein Christoph, Conn Graeme L, Meiners Silke, Hauck Fabian

Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy

反义寡核苷酸治疗早产儿早期发作的SCN2A发育和癫痫性脑病

Wagner, Matias; Berecki, Géza; Fazeli, Walid; Nussbaum, Claudia; Flemmer, Andreas W; Frizzo, Silvana; Heer, Farina; Heinen, Florian; Horton, Robert; Jacotin, Henry; Motel, William; Spar, Brian; Klein, Christoph; Siegel, Corinna; Hübener, Christoph; Stöcklein, Sophia; Paolini, Marco; Staudt, Martin; Tacke, Moritz; Wolff, Markus; Petrou, Steven; Souza, Marcio; Borggraefe, Ingo

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Dissection of single-cell landscapes for the development of chimeric antigen receptor T cells in Hodgkin lymphoma

解析单细胞图谱以研究霍奇金淋巴瘤中嵌合抗原受体T细胞的发育

Gottschlich, Adrian; Grünmeier, Ruth; Hoffmann, Gordon Victor; Nandi, Sayantan; Kavaka, Vladyslav; Müller, Philipp Jie; Jobst, Jakob; Oner, Arman; Kaiser, Rainer; Gärtig, Jan; Piseddu, Ignazio; Frenz-Wiessner, Stephanie; Fairley, Savannah D; Schulz, Heiko; Igl, Veronika; Janert, Thomas Alexander; Di Fina, Lea; Mulkers, Maité; Thomas, Moritz; Briukhovetska, Daria; Simnica, Donjetë; Carlini, Emanuele; Tsiverioti, Christina Angeliki; Trefny, Marcel P; Lorenzini, Theo; Märkl, Florian; Mesquita, Pedro; Brabenec, Ruben; Strzalkowski, Thaddäus; Stock, Sophia; Michaelides, Stefanos; Hellmuth, Johannes; Thelen, Martin; Reinke, Sarah; Klapper, Wolfram; Gelebart, Pascal Francois; Nicolai, Leo; Marr, Carsten; Beltrán, Eduardo; Megens, Remco T A; Klein, Christoph; Baran-Marszak, Fanny; Rosenwald, Andreas; von Bergwelt-Baildon, Michael; Bröckelmann, Paul J; Endres, Stefan; Kobold, Sebastian

Ontology-guided clustering enables proteomic analysis of rare pediatric disorders.

基于本体论的聚类分析能够对罕见儿科疾病进行蛋白质组学分析

Itang Ericka C M, Albrecht Vincent, Schebesta Alicia-Sophie, Thielert Marvin, Lanz Anna-Lisa, Danhauser Katharina, Jin Jessica, Prell Tobias, Strobel Sophie, Klein Christoph, Mann Matthias, Pangratz-Fuehrer Susanne, Mueller-Reif Johannes

Using large language models to extract information from pediatric clinical reports

利用大型语言模型从儿科临床报告中提取信息

Danhauser, Katharina; Wang, Yingding; Klein, Christoph; Tacke, Uta; Mantoan, Larissa; Ritter, Laura Aurica; Heinen, Florian; Nobile, Chiara; Tacke, Moritz