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

Preclinical efficacy of tasquinimod in myelodysplastic neoplasms: Restoring erythropoiesis and mitigating bone loss

tasquinimod治疗骨髓增生异常综合征的临床前疗效:恢复红细胞生成并减轻骨丢失

Wobus, Manja; Weidner, Heike; Wehner, Rebekka; Baumann, Anna-Lena; Möbus, Kristin; Balaian, Ekaterina; Törngren, Marie; Vahtola, Erik; Eriksson, Helena; Winter, Susann; Platzbecker, Uwe; Chavakis, Triantafyllos; Hofbauer, Lorenz Christian; Rauner, Martina; Bornhäuser, Martin; Sockel, Katja

Long read nanopore DNA sequencing with adaptive sampling to identify tyrosine kinase fusion genes

利用自适应采样进行长读长纳米孔DNA测序,以鉴定酪氨酸激酶融合基因

Salmon, Matthew; Naumann, Nicole; Rinke, Jenny; Meggendorfer, Manja; Radia, Deepti; Pomfret, Mark; Ernst, Thomas; Hochhaus, Andreas; Reiter, Andreas; Tapper, William J; White, Helen; Cross, Nicholas C P

Solving Riddles Through Sequencing (SIRIUS): unlocking hematologic diagnoses by whole genome and transcriptome sequencing

通过测序解谜(SIRIUS):利用全基因组和转录组测序破解血液学诊断难题

Truger, Marietta; Meggendorfer, Manja; Walter, Wencke; Hutter, Stephan; Alsdorf, Winfried; Massenkeil, Gero; Martens, Uwe M; Kern, Wolfgang; Hörst, Katharina; Kühn, Constanze; Reiter, Andreas; Hochhaus, Andreas; Haferlach, Torsten

The FGFR1 N546K mutation confers resistance to pemigatinib in MLN-ZMYM2::FGFR1

FGFR1 N546K 突变赋予 MLN-ZMYM2::FGFR1 对 pemigatinib 的耐药性

Shoumariyeh, Khalid; Haug, Stefan; Schwaab, Juliana; Pfeil, Julie K; Stappenbeck, Jannis; Schmitt-Graeff, Annette; Naumann, Nicole; Waltemode, Greta; Zeiser, Robert; Miething, Cornelius; Hofmann, Wolf-Karsten; Meggendorfer, Manja; Diederichs, Sven; Duyster, Justus; Reiter, Andreas

VirJenDB: a FAIR (meta)data and bioinformatics platform for all viruses

VirJenDB:一个面向所有病毒的 FAIR(元)数据和生物信息学平台

Saghaei, Shahram; Siemers, Malte; Ossetek, Kilian L; Richter, Stephan; Edwards, Robert A; Roux, Simon; Zielezinski, Andrzej; Dutilh, Bas E; Marz, Manja; Cassman, Noriko A

Unlocking the full potential of nanopore sequencing: tips, tricks, and advanced data analysis techniques

充分发挥纳米孔测序的潜力:技巧、诀窍和高级数据分析技术

Meyer, Daria; Goettsch, Winfried; Spangenberg, Jannes; Stieber, Bettina; Krautwurst, Sebastian; Hölzer, Martin; Brandt, Christian; Linde, Jörg; Höner Zu Siederdissen, Christian; Srivastava, Akash; Zarkovic, Milena; Wollny, Damian; Marz, Manja

Role for NF-κB in herpes encephalitis pathology in mice genocopying an inborn error of IRF3-IFN immunity

NF-κB在模拟IRF3-IFN免疫先天缺陷的小鼠疱疹性脑炎病理中的作用

Manja Idorn,Xiangning Ding,Stefanie Fruhwürth,Søren Holste,Line S Reinert,Christian S Skoven,Katarina Türner-Stenström,Alexander Schmitz,Mikkel H Vendelbo,Benedicte P Ulhøi,Dzeneta Vizlin-Hodzic,Mona Wefelmeyer,Ryo Narita,Lona J Kroese,Ivo J Huijbers,Michelle Møhlenberg,Anne Kruse Hollensen,Xin Lai,Marie B Iversen,Brian Hansen,Trine H Mogensen,Søren R Paludan

Skin Lipid-Microbe Interplay Links Staphylococcus hominis to Barrier Control in Adult Atopic Dermatitis

皮肤脂质-微生物相互作用将人葡萄球菌与成人特应性皮炎的屏障控制联系起来

Bhattacharyya, Madhumita; Lauffer, Felix; Jargosch, Manja; Frey, Kristina; Dadras, Mahsa Shahidi; Raunegger, Theresa; Wasserer, Sophia; Schmidt-Weber, Carsten B; Biedermann, Tilo; Eyerich, Kilian; Eyerich, Stefanie; Traidl-Hoffmann, Claudia; Klose, Christian; Reiger, Matthias; Garzorz-Stark, Natalie

Primary asciminib resistance in a chronic myeloid leukemia patient with the atypical BCR::ABL1 e13a3 transcript: a case study

一例伴有非典型 BCR::ABL1 e13a3 转录本的慢性粒细胞白血病患者出现原发性 asciminib 耐药:病例研究

Jung, Birte Kristin; Weißmann, Sandra; Schock, Caroline; Meggendorfer, Manja; Haferlach, Torsten; Dicker, Frank