日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

BORC assemblies integrate BLOC-1 subunits to diversify endosomal trafficking functions

BORC组装体整合BLOC-1亚基,以实现内体运输功能的多样化。

de Araujo, Mariana E G; J Amann, Sascha; Stasyk, Taras; Schleiffer, Alexander; Rauch, Eva; Flümann, Paula; Singer, Isabel I; Kremser, Leopold; Dostal, Vojtech; Laopanupong, Thanida; Obojes, Nikolaus; Wallnöfer, Moritz H; Gradl, Flora S; Kurzbauer, Robert; Krebiehl, Caroline; Kofler, Samuel; Grishkovskaya, Irina; Vogel, Georg F; Hess, Michael W; Sarg, Bettina; Clausen, Tim; Haselbach, David; Huber, Lukas A

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes

MAGEL2 的截短变体与 Schaaf-Yang 综合征和 Prader-Willi 综合征的病因有关。

Heimdörfer, David; Vorleuter, Alexander; Eschlböck, Alexander; Spathopoulou, Angeliki; Suarez-Cubero, Marta; Farhan, Hesso; Reiterer, Veronika; Spanjaard, Melanie; Schaaf, Christian P; Huber, Lukas A; Kremser, Leopold; Sarg, Bettina; Edenhofer, Frank; Geley, Stephan; de Araujo, Mariana E G; Huettenhofer, Alexander

TFEB Orchestrates Stress Recovery and Paves the Way for Senescence Induction in Human Dermal Fibroblasts.

TFEB 协调压力恢复并为人类真皮成纤维细胞衰老诱导铺平道路

Guerrero-Navarro Lena, Monfort-Lanzas Pablo, Krichbaumer Vinzenz, De Araújo Mariana E G, Monfregola Jlenia, Huber Lukas A, Ballabio Andrea, Jansen-Dürr Pidder, Cavinato Maria

Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.

改变的分子伴侣-非肌肉肌球蛋白 II 相互作用驱动了 UNC45A c.710T>C 变异在骨-耳-肝-肠综合征中的致病性

Waich Stephanie, Kreidl Karin, Vodopiutz Julia, Demir Arzu Meltem, Pollio Adam R, Dostál Vojtěch, Pfaller Kristian, Parlato Marianna, Cerf-Bensussan Nadine, Adam Rüdiger, Vogel Georg F, Uhlig Holm H, Ruemmele Frank M, Müller Thomas, Hess Michael W, Janecke Andreas R, Huber Lukas A, Valovka Taras

Congenital enteropathy caused by ezrin deficiency

由埃兹蛋白缺乏引起的先天性肠病

Vogel, Georg F; Klee, Katharina M C; Demir, Arzu Meltem; Garczarczyk-Asim, Dorota; Hess, Michael W; Huber, Lukas A; Müller, Thomas; Janecke, Andreas R

Toll-Like Receptor 3 Mediates Aortic Stenosis Through a Conserved Mechanism of Calcification

Toll样受体3通过保守的钙化机制介导主动脉瓣狭窄

Gollmann-Tepeköylü, Can; Graber, Michael; Hirsch, Jakob; Mair, Sophia; Naschberger, Andreas; Pölzl, Leo; Nägele, Felix; Kirchmair, Elke; Degenhart, Gerald; Demetz, Egon; Hilbe, Richard; Chen, Hao-Yu; Engert, James C; Böhm, Anna; Franz, Nadja; Lobenwein, Daniela; Lener, Daniela; Fuchs, Christiane; Weihs, Anna; Töchterle, Sonja; Vogel, Georg F; Schweiger, Victor; Eder, Jonas; Pietschmann, Peter; Seifert, Markus; Kronenberg, Florian; Coassin, Stefan; Blumer, Michael; Hackl, Hubert; Meyer, Dirk; Feuchtner, Gudrun; Kirchmair, Rudolf; Troppmair, Jakob; Krane, Markus; Weiss, Günther; Tsimikas, Sotirios; Thanassoulis, George; Grimm, Michael; Rupp, Bernhard; Huber, Lukas A; Zhang, Shen-Ying; Casanova, Jean-Laurent; Tancevski, Ivan; Holfeld, Johannes

Overcoming limitations in the availability of swabs systems used for SARS-CoV-2 laboratory diagnostics

克服用于SARS-CoV-2实验室诊断的拭子系统供应方面的限制

Nairz, Manfred; Bellmann-Weiler, Rosa; Ladstätter, Miriam; Schüllner, Falko; Zimmermann, Martina; Koller, Anna-Maria; Blunder, Silvia; Naschberger, Helene; Klotz, Werner; Herold, Manfred; Kerndler, Sylvia; Jeske, Martina; Haschka, David; Petzer, Verena; Schroll, Andrea; Sonnweber, Thomas; Tancevski, Ivan; Fritsche, Gernot; de Araujo, Mariana E G; Stasyk, Taras; Huber, Lukas A; Griesmacher, Andrea; Theurl, Igor; Weiss, Günter

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

影响视网膜和肠道转录本的致病性STX3变异会导致微绒毛包涵体病患者出现早发性严重视网膜营养不良。

Janecke, Andreas R; Liu, Xiaoqin; Adam, Rüdiger; Punuru, Sumanth; Viestenz, Arne; Strauß, Valeria; Laass, Martin; Sanchez, Elizabeth; Adachi, Roberto; Schatz, Martha P; Saboo, Ujwala S; Mittal, Naveen; Rohrschneider, Klaus; Escher, Johanna; Ganesh, Anuradha; Al Zuhaibi, Sana; Al Murshedi, Fathiya; AlSaleem, Badr; Alfadhel, Majid; Al Sinani, Siham; Alkuraya, Fowzan S; Huber, Lukas A; Müller, Thomas; Heidelberger, Ruth; Janz, Roger

P80 Natural Essence Exerts Efficient Anti-HIV-1- as Well as Adjuvant Effects in DCs

P80天然精华对树突状细胞具有高效的抗HIV-1作用以及佐剂作用。

Zaderer, Viktoria; Posch, Wilfried; Gstir, Ronald; Filipek, Przemyslaw A; Bonn, Günther K; Aramwit, Pornanong; Huber, Lukas A; Wilflingseder, Doris

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

先天性腹泻和胆汁淤积性肝病:与 MYO5B 突变相关的表型谱

Aldrian, Denise; Vogel, Georg F; Frey, Teresa K; Ayyıldız Civan, Hasret; Aksu, Aysel Ünlüsoy; Avitzur, Yaron; Ramos Boluda, Ester; Çakır, Murat; Demir, Arzu Meltem; Deppisch, Caroline; Duba, Hans-Christoph; Düker, Gesche; Gerner, Patrick; Hertecant, Jozef; Hornová, Jarmila; Kathemann, Simone; Koeglmeier, Jutta; Koutroumpa, Arsinoi; Lanzersdorfer, Roland; Lev-Tzion, Raffi; Lima, Rosa; Mansour, Sahar; Meissl, Manfred; Melek, Jan; Miqdady, Mohamad; Montoya, Jorge Hernan; Posovszky, Carsten; Rachman, Yelena; Siahanidou, Tania; Tabbers, Merit; Uhlig, Holm H; Ünal, Sevim; Wirth, Stefan; Ruemmele, Frank M; Hess, Michael W; Huber, Lukas A; Müller, Thomas; Sturm, Ekkehard; Janecke, Andreas R