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

Glucose-transporter 1 (GLUT1) as a prognostic biomarker: evidence from 14,966 human tumors across 134 cancer types

葡萄糖转运蛋白1 (GLUT1) 作为预后生物标志物:来自134种癌症类型共14,966例人类肿瘤的证据

Büyücek, Seyma; Möller, Katharina; Viehweger, Florian; Schlichter, Ria; Menz, Anne; Luebke, Andreas M; Reiswich, Viktor; Kluth, Martina; Hube-Magg, Claudia; Hinsch, Andrea; Lutz, Florian; Weidemann, Sören; Jacobsen, Frank; Lennartz, Maximilian; Dum, David; Bernreuther, Christian; Lebok, Patrick; Sauter, Guido; Marx, Andreas H; Simon, Ronald; Fraune, Christoph; Gorbokon, Natalia; Burandt, Eike; Minner, Sarah; Steurer, Stefan; Clauditz, Till S; Krech, Till; Chirico, Viktoria

Pattern and Clinical Significance of CA19-9 Expression in Human Cancer: A Tissue Microarray Study on 14,966 Tumors

CA19-9在人类癌症中的表达模式及临床意义:一项基于14966例肿瘤的组织芯片研究

Schraps, Nina; Menz, Anne; Viehweger, Florian; Büyücek, Seyma; Dum, David; Schlichter, Ria; Hinsch, Andrea; Fraune, Christoph; Bernreuther, Christian; Kluth, Martina; Hube-Magg, Claudia; Möller, Katharina; Reiswich, Viktor; Luebke, Andreas M; Lebok, Patrick; Weidemann, Sören; Sauter, Guido; Lennartz, Maximilian; Jacobsen, Frank; Clauditz, Till S; Marx, Andreas H; Simon, Ronald; Steurer, Stefan; Mercanoglu, Baris; Melling, Nathaniel; Hackert, Thilo; Burandt, Eike; Gorbokon, Natalia; Minner, Sarah; Krech, Till; Lutz, Florian; Freytag, Morton

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

Conservation of regulatory elements with highly diverged sequences across large evolutionary distances

在进化距离很远的情况下,具有高度分化序列的调控元件仍然保守

Phan, Mai H Q; Zehnder, Tobias; Puntieri, Fiona; Magg, Andreas; Majchrzycka, Blanka; Antonović, Milan; Wieler, Hannah; Lo, Bai-Wei; Baranasic, Damir; Lenhard, Boris; Müller, Ferenc; Vingron, Martin; Ibrahim, Daniel M

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

Prognostic role of high MTAP expression is reversed by the ERG status in prostate cancer treated by radical prostatectomy

在接受根治性前列腺切除术治疗的前列腺癌中,高MTAP表达的预后作用会被ERG状态逆转。

Gorbokon, Natalia; Büyücek, Seyma; Plage, Henning; Heckmann, Neele; Simon, Ronald; Lennartz, Maximilian; Kluth, Martina; Teljuk, Katharina; Hube-Magg, Claudia; Minner, Sarah; Burandt, Eike; Clauditz, Till S; Wilczak, Waldemar; Sauter, Guido; Dum, David; Hinsch, Andrea; Heinzer, Hans; Haese, Alexander; Schlomm, Thorsten; Luebke, Andreas M; Graefen, Markus; Steurer, Stefan; Bernreuther, Christian; Roma, Luca; Bubendorf, Lukas; Weinberger, Sarah

Non-invasive quantitative assessment of induced component displacement can safely and accurately diagnose tibial component loosening in patients: A prospective diagnostic study

无创定量评估诱发性组件移位可安全准确地诊断患者胫骨假体松动:一项前瞻性诊断研究

Buijs, George S; Kievit, Arthur J; Ter Wee, Maaike A; Magg, Caroline; Dobbe, Johannes G G; Streekstra, Geert J; Schafroth, Matthias U; Blankevoort, Leendert

Glucocorticoid Receptor (GR) Expression in Human Tumors: A Tissue Microarray Study on More than 14,000 Tumors.

人类肿瘤中糖皮质激素受体 (GR) 的表达:一项对超过 14,000 个肿瘤的组织微阵列研究

Tsourlakis Maria Christina, Kind Simon, Dwertmann Rico Sebastian, Weidemann Sören, Möller Katharina, Schlichter Ria, Kluth Martina, Hube-Magg Claudia, Bernreuther Christian, Sauter Guido, Marx Andreas H, Simon Ronald, Bawahab Ahmed Abdulwahab, Lutz Florian, Reiswich Viktor, Dum Davin, Steurer Stefan, Burandt Eike, Clauditz Till S, Krech Till, Fraune Christoph, Büyücek Seyma, Heckmann Neele, Gorbokon Natalia, Lennartz Maximilian, Minner Sarah, Viehweger Florian

Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review

纯合子变异性卟啉症的神经发育迟缓和神经系统症状:两例新病例报告及文献综述

Kaiser, Nadja; Magg, Janine; Nägele, Thomas; Wolf, Nicole; Krägeloh-Mann, Ingeborg