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

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

双等位基因 KICS2 突变会损害 KICSTOR 复合物介导的 mTORC1 调节,导致智力障碍和癫痫

Buchert Rebecca, Burkhalter Martin D, Huridou Chrisovalantou, Sofan Linda, Roser Timo, Cremer Kirsten, Alvi Javeria Raza, Efthymiou Stephanie, Froukh Tawfiq, Gulieva Sughra, Guliyeva Ulviyya, Hamdallah Moath, Holder-Espinasse Muriel, Kaiyrzhanov Rauan, Klingler Doreen, Koko Mahmoud, Matthies Lars, Park Joohyun, Sturm Marc, Velic Ana, Spranger Stephanie, Sultan Tipu, Engels Hartmut, Lerche Holger, Houlden Henry, Pagnamenta Alistair T, Borggraefe Ingo, Weber Yvonne, Bonnen Penelope E, Maroofian Reza, Riess Olaf, Weber Jonasz J, Philipp Melanie, Haack Tobias B

Extracellular Vesicles Derived From the Feces of Pregnant Women Modulate T Cells Toward a Pregnancy-Supportive Phenotype In Vitro

体外实验表明,源自孕妇粪便的细胞外囊泡能够调节T细胞,使其向妊娠支持表型转变。

Stefanie Dietz-Ziegler ,Samantha Kewitz ,Gabriele Kaiser ,Jessica Rühle ,Alexander Marmé ,Alexander Dalpke ,Bachar Cheaib ,Jan Pauluschke-Fröhlich ,Melanie Henes ,Ana Velic ,Andreas Pich ,Anneli Vollert ,Martin Schaller ,Felix Knab ,Trim Lajqi ,Christian F Poets ,Christian Gille ,Natascha Köstlin-Gille

Comparative study of flow rate- and material-dependent human plasma protein adsorption on oxygenator membranes and heat exchanger materials

比较研究流速和材料依赖性的人血浆蛋白在氧合器膜和热交换器材料上的吸附情况

Große-Berkenbusch, Katharina; Avci-Adali, Meltem; Cahalan, Patrick; Cahalan, Linda; Velic, Ana; Maček, Boris; Schlensak, Christian; Wendel, Hans Peter; Stoppelkamp, Sandra

Rapid discovery of high-affinity antibodies via massively parallel sequencing, ribosome display and affinity screening

通过大规模并行测序、核糖体展示和亲和力筛选快速发现高亲和力抗体

Benjamin T Porebski, Matthew Balmforth, Gareth Browne, Aidan Riley, Kiarash Jamali, Maximillian J L J Fürst, Mirko Velic, Andrew Buchanan, Ralph Minter, Tristan Vaughan, Philipp Holliger

Pulmonary Surfactant Proteins Are Inhibited by Immunoglobulin A Autoantibodies in Severe COVID-19

重症新冠肺炎患者体内免疫球蛋白A自身抗体抑制肺表面活性蛋白的表达

Sinnberg, Tobias; Lichtensteiger, Christa; Ali, Omar Hasan; Pop, Oltin T; Jochum, Ann-Kristin; Risch, Lorenz; Brugger, Silvio D; Velic, Ana; Bomze, David; Kohler, Philipp; Vernazza, Pietro; Albrich, Werner C; Kahlert, Christian R; Abdou, Marie-Therese; Wyss, Nina; Hofmeister, Kathrin; Niessner, Heike; Zinner, Carl; Gilardi, Mara; Tzankov, Alexandar; Röcken, Martin; Dulovic, Alex; Shambat, Srikanth Mairpady; Ruetalo, Natalia; Buehler, Philipp K; Scheier, Thomas C; Jochum, Wolfram; Kern, Lukas; Henz, Samuel; Schneider, Tino; Kuster, Gabriela M; Lampart, Maurin; Siegemund, Martin; Bingisser, Roland; Schindler, Michael; Schneiderhan-Marra, Nicole; Kalbacher, Hubert; McCoy, Kathy D; Spengler, Werner; Brutsche, Martin H; Maček, Boris; Twerenbold, Raphael; Penninger, Josef M; Matter, Matthias S; Flatz, Lukas

Implications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease

Ataxin-3 中特定赖氨酸残基对 Machado-Joseph 病分子发病机制的影响

Priscila Pereira Sena, Jonasz Jeremiasz Weber, Sercan Bayezit, Rafael Saup, Rana Dilara Incebacak Eltemur, Xiaoling Li, Ana Velic, Jaqueline Jung, Boris Macek, Huu Phuc Nguyen, Olaf Riess, Thorsten Schmidt

Glutamine prevents acute kidney injury by modulating oxidative stress and apoptosis in tubular epithelial cells

谷氨酰胺通过调节肾小管上皮细胞的氧化应激和细胞凋亡来预防急性肾损伤。

Katharina Thomas ,Lisa Zondler ,Nadine Ludwig ,Marina Kardell ,Corinna Lüneburg ,Katharina Henke ,Sina Mersmann ,Andreas Margraf ,Tilmann Spieker ,Tobias Tekath ,Ana Velic ,Richard Holtmeier ,Juliane Hermann ,Vera Jankowski ,Melanie Meersch ,Dietmar Vestweber ,Martin Westphal ,Johannes Roth ,Michael A Schäfers ,John A Kellum ,Clifford A Lowell ,Jan Rossaint ,Alexander Zarbock

KPNB1 modulates the Machado-Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP

KPNB1 通过激活线粒体蛋白酶 CLPP 来调节 Machado-Joseph 病蛋白 ataxin-3

Mahkameh Abeditashi, Jonasz Jeremiasz Weber #, Priscila Pereira Sena #, Ana Velic, Maria Kalimeri, Rana Dilara Incebacak Eltemur, Jana Schmidt, Jeannette Hübener-Schmid, Stefan Hauser, Boris Macek, Olaf Riess, Thorsten Schmidt

Human Leucocyte Antigen G and Murine Qa-2 Are Critical for Myeloid Derived Suppressor Cell Expansion and Activation and for Successful Pregnancy Outcome

人类白细胞抗原 G 和鼠 Qa-2 对髓系抑制细胞扩增和激活以及成功妊娠结果至关重要

Stefanie Dietz, Julian Schwarz, Ana Velic, Irene González-Menéndez, Leticia Quintanilla-Martinez, Nicolas Casadei, Alexander Marmé, Christian F Poets, Christian Gille, Natascha Köstlin-Gille