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

Harnessing 2D and 3D human endometrial cell culture models to investigate SARS-CoV-2 infection in early pregnancy.

利用 2D 和 3D 人类子宫内膜细胞培养模型研究 SARS-CoV-2 在妊娠早期的感染情况

Liu Anna, Ruetalo Natalia, Raja Xavier Janet P, Lankapalli Aditya Kumar, Admard Jakob, Camarena-Sainz Miguel, Brucker Sara Y, Singh Yogesh, Schindler Michael, Salker Madhuri S

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.

ATXN2 中间 CAG 重复序列、9bp 重复和选择性剪接对 SCA3 发病机制的影响

Lauerer Marilena, Faber Jennifer, Casadei Nicolas, Santana Magda M, Auburger Georg, Pogoda Michaela, Admard Jakob, Kaupp Lea, Kos Patricia Laura, Raposo Mafalda, Lima Manuela, de Almeida Luis Pereira, Garcia-Moreno Hector, Giunti Paola, de Vries Jeroen, van de Warrenburg Bart P, van Gaalen Judith, Grobe-Einsler Marcus, Koyak Berkan, Reetz Kathrin, Erdlenbruch Friedrich, Jacobi Heike, Infante Jon, Hengel Holger, Schöls Ludger, Klockgether Thomas, Rieß Olaf, Hübener-Schmid Jeannette

Long-read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neurons.

长读长RNA测序揭示了人类皮层神经元中转录本特异性调控

Xu Jishu, Hörner Michaela, Atienza Elena Buena, Manibarathi Kalaivani, Nagel Maike, Hauser Stefan, Admard Jakob, Casadei Nicolas, Ossowski Stephan, Schuele Rebecca

Unravelling axonal transcriptional landscapes: insights from induced pluripotent stem cell-derived cortical neurons and implications for motor neuron degeneration.

揭示轴突转录图景:来自诱导多能干细胞衍生皮层神经元的见解及其对运动神经元退化的影响

Xu Jishu, Hörner Michaela, Nagel Maike, Perhat Perwin, Korneck Milena, Noß Marvin, Hauser Stefan, Schoels Ludger, Admard Jakob, Casadei Nicolas, Schuele Rebecca

Tumour-informed liquid biopsies to monitor advanced melanoma patients under immune checkpoint inhibition

利用肿瘤信息指导的液体活检监测接受免疫检查点抑制剂治疗的晚期黑色素瘤患者

Schroeder, Christopher; Gatidis, Sergios; Kelemen, Olga; Schütz, Leon; Bonzheim, Irina; Muyas, Francesc; Martus, Peter; Admard, Jakob; Armeanu-Ebinger, Sorin; Gückel, Brigitte; Küstner, Thomas; Garbe, Claus; Flatz, Lukas; Pfannenberg, Christina; Ossowski, Stephan; Forschner, Andrea

Functional screening reveals genetic dependencies and diverging cell cycle control in atypical teratoid rhabdoid tumors

功能筛选揭示非典型畸胎瘤样横纹肌瘤的遗传依赖性和不同的细胞周期控制

Daniel J Merk, Foteini Tsiami, Sophie Hirsch, Bianca Walter, Lara A Haeusser, Jens D Maile, Aaron Stahl, Mohamed A Jarboui, Anna Lechado-Terradas, Franziska Klose, Sepideh Babaei, Jakob Admard, Nicolas Casadei, Cristiana Roggia, Michael Spohn, Jens Schittenhelm, Stephan Singer, Ulrich Schüller, Fede

Genomes in clinical care

基因组学在临床护理中的应用

Riess, Olaf; Sturm, Marc; Menden, Benita; Liebmann, Alexandra; Demidov, German; Witt, Dennis; Casadei, Nicolas; Admard, Jakob; Schütz, Leon; Ossowski, Stephan; Taylor, Stacie; Schaffer, Sven; Schroeder, Christopher; Dufke, Andreas; Haack, Tobias

Rel Family Transcription Factor NFAT5 Upregulates COX2 via HIF-1α Activity in Ishikawa and HEC1a Cells

Rel 家族转录因子 NFAT5 通过 Ishikawa 和 HEC1a 细胞中的 HIF-1α 活性上调 COX2

Toshiyuki Okumura, Janet P Raja Xavier, Jana Pasternak, Zhiqi Yang, Cao Hang, Bakhtiyor Nosirov, Yogesh Singh, Jakob Admard, Sara Y Brucker, Stefan Kommoss, Satoru Takeda, Annette Staebler, Florian Lang, Madhuri S Salker

Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease

人类 α-突触核蛋白的过度表达导致帕金森病大鼠模型中的微生物组/代谢物随年龄增长而失调

Yogesh Singh, Christoph Trautwein, Joan Romani, Madhuri S Salker, Peter H Neckel, Isabel Fraccaroli, Mahkameh Abeditashi, Nils Woerner, Jakob Admard, Achal Dhariwal, Morten K D Dueholm, Karl-Herbert Schäfer, Florian Lang, Daniel E Otzen, Hilal A Lashuel, Olaf Riess, Nicolas Casadei