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

Nerve Ultrasound in Patients With Friedreich Ataxia

弗里德赖希共济失调患者的神经超声检查

Kneer, Katharina; Stahl, Jan-Hendrik; Winter, Natalie; Wittlinger, Julia; Männlin, Stephanie; Gasimli, Toghrul; Schöls, Ludger; Fleszar, Zofia; Hayer, Stefanie; Grimm, Alexander

Alternative splicing in pediatric central nervous system tumors highlights oncofetal candidate CLK1 exon 4

儿童中枢神经系统肿瘤中的选择性剪接凸显了癌胚候选基因 CLK1 外显子 4

Naqvi, Ammar S; Sullivan, Patricia J; Corbett, Ryan J; Sehgal, Priyanka; Conkrite, Karina L; Rathi, Komal S; Ennis, Brian M; Hayer, Katharina E; Zhang, Bo; Brown, Miguel A; Miller, Daniel P; Sickler, Alex; Kraya, Adam A; Coleman, Kaleem L; Dybas, Joseph M; Geng, Zhuangzhuang; Blackden, Christopher; Arif, Shehbeel; Chroni, Antonia; Lahiri, Aditya; Hollawell, Madison L; Storm, Phillip B; Haydar, Dalia; Foster, Jessica B; Koptyra, Mateusz; Madsen, Peter J; Diskin, Sharon J; Thomas-Tikhonenko, Andrei; Resnick, Adam C; Rokita, Jo Lynne

An Animal-Free Patient-Derived Tissue-Mimetic Biochip Model of the Human Synovial Membrane for Human-Relevant Osteoarthritis Research.

用于人类相关骨关节炎研究的无动物、患者来源的模拟人滑膜组织生物芯片模型

Reihs Eva I, Stoegner Alexander, Vasconez Martínez Mateo G, Schreiner Markus M, Cezanne Melanie, Gruebl-Barabas Ruth, Rodriguez-Molina Bettina, Alphonsus Juergen, Hayer Silvia, Lass Richard, Gerner Iris, Jenner Florien, Holnthoner Wolfgang, Toegel Stefan, Ertl Peter, Kiener Hans P, Windhager Reinhard, Rothbauer Mario

Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder

在国际队列中,造血干细胞移植治疗集落刺激因子-1受体(CSF1R)相关疾病

Yska, Hemmo A F; Golse, Marianne; Beerepoot, Shanice; Hayer, Stefanie; Bergner, Caroline; de Paiva, Anderson Rodrigues Brandao; Marelli, Cecilia; Palacios, Natalia Julia; Osorio, Yudy Llamas; Huiban, Camille; Franke, Georg; Wortmann, Friederike; Holtick, Udo; Ayrignac, Xavier; van der Knaap, Marjo S; Schöls, Ludger; Perlbarg, Vincent; Galanaud, Damien; de Witte, Moniek A; Wolf, Nicole I; Nguyen, Stéphanie; Mochel, Fanny

Promoter- and enhancer-dependent cohesin loading initiates chromosome looping to fold Tcrb loci for long-range recombination.

启动子和增强子依赖的黏连蛋白加载启动染色体环化,使 Tcrb 基因座折叠起来进行长程重组。

Allyn Brittney M, Hayer Katharina E, Oyeniran Clement, Nganga Vincent, Lee Kyutae, Sacan Ahmet, Oltz Eugene M, Bassing Craig H

Quantifying superimposed protein flow dynamics in live cells using spatial filtering and spatiotemporal image correlation spectroscopy

利用空间滤波和时空图像相关光谱技术量化活细胞中叠加的蛋白质流动动力学

Migueles-Ramírez, Rodrigo A; Cambi, Alessandra; Hayer, Arnold; Wiseman, Paul W; van den Dries, Koen

Apolipoprotein E controls Dectin-1-dependent development of monocyte-derived alveolar macrophages upon pulmonary β-glucan-induced inflammatory adaptation

载脂蛋白E在肺部β-葡聚糖诱导的炎症适应过程中,通过Dectin-1依赖性途径控制单核细胞来源的肺泡巨噬细胞的发育

H Theobald # ,D A Bejarano # ,N Katzmarski # ,J Haub # ,J Schulte-Schrepping ,J Yu ,K Bassler ,A L Ament ,C Osei-Sarpong ,F Piattini ,L Vornholz ,W T'Jonck ,A H Györfi ,H Hayer ,X Yu ,S Sheoran ,A Al Jawazneh ,S Chakarov ,K Haendler ,G D Brown ,D L Williams ,L Bosurgi ,J H W Distler ,F Ginhoux ,J Ruland ,M D Beyer ,M Greter ,C C Bain ,A I Vazquez-Armendariz ,M Kopf ,J L Schultze ,A Schlitzer

Locus folding mechanisms determine modes of antigen receptor gene assembly

基因座折叠机制决定抗原受体基因组装模式

Brittney M Allyn, Katharina E Hayer, Clement Oyeniran, Vincent Nganga, Kyutae Lee, Bikash Mishra, Ahmet Sacan, Eugene M Oltz, Craig H Bassing

An Alternatively Spliced Gain-of-Function NT5C2 Isoform Contributes to Chemoresistance in Acute Lymphoblastic Leukemia

选择性剪接的获得功能 NT5C2 亚型导致急性淋巴细胞白血病产生化学耐药性

Manuel Torres-Diz, Clara Reglero, Catherine D Falkenstein, Annette Castro, Katharina E Hayer, Caleb M Radens, Mathieu Quesnel-Vallières, Zhiwei Ang, Priyanka Sehgal, Marilyn M Li, Yoseph Barash, Sarah K Tasian, Adolfo Ferrando, Andrei Thomas-Tikhonenko