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

ACTN4 p.Ile150Met Causes FSGS With Validation in Primary Fibroblasts and Immortalized Podocytes

ACTN4 p.Ile150Met 突变导致 FSGS,并在原代成纤维细胞和永生化足细胞中得到验证

Grosch, Melanie; Haak, Jan René; Kolb, Cathiana; Plogmann, Izabela; Guaragna, Mara Sanches; Wiesener, Antje; Pasutto, Francesca; Wopperer, Florian J; Pollinger, Lena; Engel, Felix B; Wiesener, Michael S; Schiffer, Mario; Jobst-Schwan, Tilman

MYH9 Variant p.(Arg424Gly) Alters Nonmuscle Myosin IIA Contraction, Causing Atypical MYH9-related Disease

MYH9 变异 p.(Arg424Gly) 会改变非肌肉肌球蛋白 IIA 的收缩,导致非典型 MYH9 相关疾病

Pollinger, Lena; Greve, Johannes N; Grosch, Melanie; Kaliman, Sara; Abuhattum, Shada; Kräter, Martin; Brauer, Ina; Schaefer, Jan T; Pasutto, Francesca; Wiesener, Antje; Wopperer, Florian J; Kolb, Cathiana; Lehmann, Christian H K; Hoerning, André; Daniel, Christoph; Amann, Kerstin; Guck, Jochen; Schiffer, Mario; Manstein, Dietmar J; Wiesener, Michael S; Jobst-Schwan, Tilman

Impact of Combined Additional Resections on the Surgical Outcomes of Robot-Assisted Resection of Thymic Epithelial Tumors

联合额外切除术对机器人辅助胸腺上皮肿瘤切除术手术结果的影响

Niedermaier, Benedikt; Khan, Nabil; Eichhorn, Florian; Zehentmeier, Maria; Grosch, Heidrun; Griffo, Raffaella; Campisi, Alessio; Margineanu, Antonia; Allgäuer, Michael; Christopoulos, Petros; Thomas, Michael; Winter, Hauke; Eichhorn, Martin E

CREB3 gain of function variants protect against ALS.

CREB3 功能获得性变异可预防 ALS

Megat Salim, Marques Christine, Hernán-Godoy Marina, Sellier Chantal, Stuart-Lopez Geoffrey, Dirrig-Grosch Sylvie, Gorin Charlotte, Brunet Aurore, Fischer Mathieu, Keime Céline, Kessler Pascal, Mendoza-Parra Marco Antonio, Zwamborn Ramona A J, Veldink Jan H, Scholz Sonja W, Ferrucci Luigi, Ludolph Albert, Traynor Bryan, Chio Adriano, Dupuis Luc, Rouaux Caroline

Immunopeptidome analysis reveals SERPINB3 as an autoantigen driving eczematized psoriasis

免疫肽组分析揭示SERPINB3是驱动湿疹样银屑病发生的自身抗原

Manja Jargosch,Jomy Kuruvila,Emanuele Scala,Johannes Grosch,Jessica Eigemann ,Sophia Wasserer,Shalva Lekiashvili,Nico Trautwein,Daniel Johannes Kowalewski,Alexander Böhner,Yigit Köseoglu,Christina Hillig,Jenny Thomas ,Felix Lauffer ,Carsten B Schmidt-Weber,Michael P Menden,Juliane S Walz ,Susanne Kaesler,Stefanie Eyerich,Simon Blank,Hans-Georg Rammensee ,Tilo Biedermann,Kilian Eyerich,Zsuzsanna Kurgyis,Lena K Freudenmann ,Natalie Garzorz-Stark

Immunopeptidome analysis reveals SERPINB3 as an autoantigen driving eczematized psoriasis

免疫肽组分析揭示SERPINB3是驱动湿疹样银屑病发生的自身抗原

Manja Jargosch ,Jomy Kuruvila ,Emanuele Scala ,Johannes Grosch ,Jessica Eigemann ,Sophia Wasserer ,Shalva Lekiashvili ,Nico Trautwein ,Daniel Johannes Kowalewski ,Alexander Böhner ,Yigit Köseoglu ,Christina Hillig ,Jenny Thomas ,Felix Lauffer ,Carsten B Schmidt-Weber ,Michael P Menden ,Juliane S Walz ,Susanne Kaesler ,Stefanie Eyerich ,Simon Blank ,Hans-Georg Rammensee ,Tilo Biedermann ,Kilian Eyerich ,Zsuzsanna Kurgyis ,Lena K Freudenmann ,Natalie Garzorz-Stark

Selective recruitment of beneficial microbes in the rhizosphere of maize affected by microbial inoculants, farming practice, and seasonal variations

微生物接种剂、耕作方式和季节变化对玉米根际有益微生物选择性募集的影响

Kampouris, Ioannis D; Kuhl-Nagel, Theresa; Behr, Jan Helge; Sommermann, Loreen; Babin, Doreen; Francioli, Davide; Zrenner, Rita; Kublik, Susanne; Schloter, Michael; Ludewig, Uwe; Smalla, Kornelia; Neumann, Günter; Grosch, Rita; Geistlinger, Joerg

Evidence for lateralization of fear emotions in the cerebellum

小脑中恐惧情绪侧化的证据

Pakusch, Johanna; Nio, Enzo; Grosch, Thomas; Ernst, Thomas M; Batsikadze, Giorgi; Güntürkün, Onur; Timmann, Dagmar; Mark, Melanie D

Effects of Emissions From Oriented Strand Board on the Development of Atopic Dermatitis Using Two Different Experimental Mouse Models

利用两种不同的实验小鼠模型研究定向刨花板排放物对特应性皮炎发展的影响

Schneider, Evelyn; Butter, Katja; Schnautz, Benjamin; Musiol, Stephanie; Grosch, Johanna; Schindela, Sonja; Garcia-Käufer, Manuel; Gminski, Richard; Haak, Stefan; Ohlmeyer, Martin; Schmidt-Weber, Carsten B; Eyerich, Stefanie; Esser-von Bieren, Julia; Alessandrini, Francesca