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

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

WSB2基因中编码E3泛素连接酶底物受体的隐性变异是神经发育综合征的病因。

Luo, Shiyu; Gailus-Durner, Valérie; McGivern, Bobbi; Li, Qifei; Kottmeier, Jessica; Ho, Mai-Lan; Mor-Shaked, Hagar; Elpeleg, Orly; Aref-Eshghi, Erfan; Brodeur, Amanda C; Schmitz-Abe, Klaus; Genetti, Casie A; Picker, Jonathan; Shi, Jiahai; Bux, Reem Ibrahim; Ben-Omran, Tawfeg; Fuchs, Helmut; Harel, Tamar; de Angelis, Martin Hrabě; Agrawal, Pankaj B

Rethinking ratio-based normalization towards model-based approaches in heart weight analysis

重新思考基于比率的标准化方法,转向基于模型的心脏重量分析方法

Oestereicher, Manuela A; da Silva-Buttkus, Patricia; Gailus-Durner, Valérie; Marschall, Susan; Fuchs, Helmut; Hrabě de Angelis, Martin; Schneltzer, Elida; Spielmann, Nadine

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1

氨基己二酸半醛合酶是戊二酸尿症1型底物减少疗法的潜在靶点

Saad, Celine; Jung-Klawitter, Sabine; Dimitrov, Bianca; Aguilar-Pimentel, Juan Antonio; Becker, Lore; da Silva-Buttkus, Patricia; Dragano, Nathalia R V; Garrett, Lillian; Hölter, Sabine M; Rathkolb, Birgit; Sanz-Moreno, Adrián; Spielmann, Nadine; Fuchs, Helmut; Gailus-Durner, Valerie; Schaaf, Christian P; la Marca, Giancarlo; Damiano, Roberta; Lefeber, Dirk J; Engelke, Udo; de Angelis, Martin Hrabe; Houten, Sander M; Kölker, Stefan

Correction: Establishing standardized transthoracic echocardiography reference ranges for mouse models: insights into the impact of anesthesia, sex, and age

更正:建立小鼠模型标准化经胸超声心动图参考范围:麻醉、性别和年龄的影响

Oestereicher, Manuela A; Ward, Christopher S; Schneltzer, Elida; Marschall, Susan; Fuchs, Helmut; Gailus-Durner, Valerie; About, Ghina Bou; Selloum, Mohammed; Meziane, Hamid; Stewart, Michelle; Teboul, Lydia; Norris, Clare; Pimm, Dale; Kan, Marina; Gómez, Federico López; Wilson, Robert; Monroy, Mayra; Pasha, Sheraz; Zabrodska, Eva; Prochazka, Jan; Reguera, David Pajuelo; Nichtova, Zuzana; Herault, Yann; Wells, Sara; Parkinson, Helen; Heaney, Jason D; Sedlacek, Radislav; Gao, Xiang; de Angelis, Martin Hrabe; Spielmann, Nadine

Loss of histone macroH2A1.1 causes kidney abnormalities secondary to a change in nutrient metabolization.

组蛋白macroH2A1.1的缺失会导致营养代谢改变,进而引起肾脏异常。

Winkler René, Comas-Armangué Gemma, Corujo David, Sanz-Moreno Adrián, Calzada-Wack Julia, Bhattacharya Shubhra Ashish, Rathkolb Birgit, Dragano Nathalia Romanelli Vicente, Qiao Colina X, Chiodi Valentina, Filipescu Dan, Park Dylan H, Domenici Maria Rosaria, Kirigin Callaú Valentina, Gerlini Raffaele, Rozman Jan, Klein-Rodewald Tanja, Aguilar-Pimentel Antonio, Becker Lore, Seisenberger Claudia, Marschall Susan, Fuchs Helmut, Gailus-Durner Valérie, Bernstein Emily, Vinciguerra Manlio, Oberdoerffer Philipp, Hrabě de Angelis Martin, Teperino Raffaele, Buschbeck Marcus

Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.

小鼠中 Ten1 的缺失会导致端粒缩短,并模拟人类先天性角化不良症

Sanz-Moreno Adrián, Becker Lore, Xie Kan, da Silva-Buttkus Patricia, Dragano Nathalia R V, Aguilar-Pimentel Antonio, Amarie Oana V, Calzada-Wack Julia, Kraiger Markus, Leuchtenberger Stefanie, Seisenberger Claudia, Marschall Susan, Rathkolb Birgit, Scifo Enzo, Liu Ting, Thanabalasingam Anoja, Sanchez-Vazquez Raul, Martinez Paula, Blasco Maria A, Savage Sharon A, Fuchs Helmut, Ehninger Dan, Gailus-Durner Valérie, de Angelis Martin Hrabê

Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia

神经病变相关的Tecpr2突变敲入小鼠揭示了神经元和小胶质细胞中内溶酶体功能丧失的表型。

Bhattacharya, Debjani; da Silva-Buttkus, Patricia; Nalbach, Karsten; Cheng, Lizhen; Garrett, Lillian; Irmler, Martin; Kislinger, Georg; Werner, Georg; Rodde, Ramona; Lengger, Christoph; Beckers, Johannes; Zimprich, Annemarie; Hölter, Sabine M; Gailus-Durner, Valerie; Fuchs, Helmut; Hrabe de Angelis, Martin; Wefers, Benedikt; Wurst, Wolfgang; Brill, Monika S; Schifferer, Martina; Lichtenthaler, Stefan F; Behrends, Christian

Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion Spectroscopy

利用红外离子光谱进行MALDI质谱成像的结构解析

Schuurman, Jelle L; van Tetering, Lara; Houthuijs, Kas J; Kooijman, Pieter; Gailus-Durner, Valerie; Leuchtenberger, Stefanie; Fuchs, Helmut; Hrabe de Angelis, Martin; Engelke, Udo F H; Lefeber, Dirk J; van Karnebeek, Clara D M; Wevers, Ron A; Grgic, Andrej; Balluf, Benjamin; Vandenbosch, Michiel; Vreeken, Rob; Heeren, Ron M A; Berden, Giel; Oomens, Jos; Martens, Jonathan

Systematic Ocular Phenotyping of Knockout Mouse Lines Identifies Genes Associated With Age-Related Corneal Dystrophies

对基因敲除小鼠品系进行系统性眼部表型分析,鉴定出与年龄相关性角膜营养不良相关的基因

Briere, Andrew; Vo, Peter; Yang, Benjamin; Adams, David; Amano, Takanori; Amarie, Oana; Berberovic, Zorana; Bower, Lynette; Brown, Steve D M; Burrill, Samantha; Cho, Soo Young; Clementson-Mobbs, Sharon; D'souza, Abigail; Eskandarian, Mohammad; Flenniken, Ann M; Fuchs, Helmut; Gailus-Durner, Valerie; Hérault, Yann; Hrabe de Angelis, Martin; Jin, Shundan; Joynson, Russell; Kang, Yeon Kyung; Kim, Haerim; Masuya, Hiroshi; Meziane, Hamid; Nam, Ki-Hoan; Noh, Hyuna; Nutter, Lauryl M J; Palkova, Marcela; Prochazka, Jan; Raishbrook, Miles Joseph; Riet, Fabrice; Salazar, Jason; Sedlacek, Radislav; Selloum, Mohammed; Seo, Kyoung Yul; Seong, Je Kyung; Shin, Hae-Sol; Shiroishi, Toshihiko; Stewart, Michelle; Svenson, Karen; Tamura, Masaru; Tolentino, Heather; Wells, Sara; Wurst, Wolfgang; Yoshiki, Atsushi; Lanoue, Louise; Lloyd, K C Kent; Leonard, Brian C; Roux, Michel J; McKerlie, Colin; Moshiri, Ala

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse

ALDH7A1 缺乏引起的吡哆醇依赖性癫痫的新疗法:小鼠上游酶抑制原理的首次验证

van Karnebeek, Clara D M; Gailus-Durner, Valérie; Engelke, Udo F; Seisenberger, Claudia; Marschall, Susan; Dragano, Nathalia R V; da Silva-Buttkus, Patricia; Leuchtenberger, Stefanie; Fuchs, Helmut; Hrabě de Angelis, Martin; Wevers, Ron A; Coughlin, Curtis R; Lefeber, Dirk J