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

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

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

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

BCAS3基因的双等位基因功能缺失变异会导致一种综合征性神经发育障碍

Hengel, Holger; Hannan, Shabab B; Dyack, Sarah; MacKay, Sara B; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S; Alzaidan, Hamad; Alsaif, Hessa S; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R; Gleeson, Joseph J; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y V; Sherr, Elliott H; Parks, Kendall C; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A; Pagnamenta, Alistair T; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Rieß, Angelika; Haack, Tobias B; Nägele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schöls, Ludger

Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma

利用多组学方法发现肝细胞癌中外显子组衍生的新抗原

Löffler, Markus W; Mohr, Christopher; Bichmann, Leon; Freudenmann, Lena Katharina; Walzer, Mathias; Schroeder, Christopher M; Trautwein, Nico; Hilke, Franz J; Zinser, Raphael S; Mühlenbruch, Lena; Kowalewski, Daniel J; Schuster, Heiko; Sturm, Marc; Matthes, Jakob; Riess, Olaf; Czemmel, Stefan; Nahnsen, Sven; Königsrainer, Ingmar; Thiel, Karolin; Nadalin, Silvio; Beckert, Stefan; Bösmüller, Hans; Fend, Falko; Velic, Ana; Maček, Boris; Haen, Sebastian P; Buonaguro, Luigi; Kohlbacher, Oliver; Stevanović, Stefan; Königsrainer, Alfred; Rammensee, Hans-Georg

PHYSIOLOGY. Regulation of breathing by CO₂ requires the proton-activated receptor GPR4 in retrotrapezoid nucleus neurons

生理学。二氧化碳对呼吸的调节需要后梯形核神经元中的质子激活受体GPR4。

Kumar, Natasha N; Velic, Ana; Soliz, Jorge; Shi, Yingtang; Li, Keyong; Wang, Sheng; Weaver, Janelle L; Sen, Josh; Abbott, Stephen B G; Lazarenko, Roman M; Ludwig, Marie-Gabrielle; Perez-Reyes, Edward; Mohebbi, Nilufar; Bettoni, Carla; Gassmann, Max; Suply, Thomas; Seuwen, Klaus; Guyenet, Patrice G; Wagner, Carsten A; Bayliss, Douglas A

The calcium-sensing receptor promotes urinary acidification to prevent nephrolithiasis

钙敏感受体促进尿液酸化,从而预防肾结石。

Renkema, Kirsten Y; Velic, Ana; Dijkman, Henry B; Verkaart, Sjoerd; van der Kemp, Annemiete W; Nowik, Marta; Timmermans, Kim; Doucet, Alain; Wagner, Carsten A; Bindels, René J; Hoenderop, Joost G

Perforin enhances the granulysin-induced lysis of Listeria innocua in human dendritic cells

穿孔素增强颗粒溶素诱导的人树突状细胞中无害李斯特菌的溶解作用

Walch, Michael; Latinovic-Golic, Sonja; Velic, Ana; Sundstrom, Hanna; Dumrese, Claudia; Wagner, Carsten A; Groscurth, Peter; Ziegler, Urs