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

NPHS2 Revisited Through 208 Cases and Podocin Complex Modeling

通过 208 个病例和足细胞蛋白复合物建模重新审视 NPHS2

Mertens, Nils David; Nicolas Frank, Camille; Bolsius, Leah; Shril, Shirlee; Majmundar, Amar J; Huber, Tobias B; Hildebrandt, Friedhelm; Buerger, Florian

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

三重外显子组测序在19.62%的先天性肾脏和泌尿道畸形(CAKUT)家族中发现了新的候选基因中的新生变异。

Merz, Lea Maria; Kolvenbach, Caroline M; Wang, Chunyan; Mertens, Nils David; Seltzsam, Steve; Mansour, Bshara; Zheng, Bixia; Schneider, Sophia; Schierbaum, Luca; Hölzel, Selina; Salmanullah, Daanya; Pantel, Dalia; Kalkar, Gina; Connaughton, Dervla M; Mann, Nina; Wu, Chen-Han Wilfred; Kause, Franziska; Nakayama, Makiko; Dai, Rufeng; Schneider, Ronen; Buerger, Florian; Nicolas-Frank, Camille; Yousef, Kirollos; Lemberg, Katharina; Saida, Ken; Yu, Seyoung; Elmubarak, Izzeldin; Franken, Gijs A C; Lomjansook, Kraisoon; Braun, Alina; Bauer, Stuart B; Rodig, Nancy M; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daga, Ankana; Baum, Michelle A; Daouk, Ghaleb H; Awad, Hazem S; Eid, Loai A; El Desoky, Sherif; Shalaby, Mohammed A; Kari, Jameela A; Ooda, Said; Fathy, Hanan M; Soliman, Neveen A; Nabhan, Marwa; Abdelrahman, Safaa; Hilger, Alina C; Mane, Shrikant M; Ferguson, Michael A; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm

Phenotypic quantification of Nphs1-deficient mice

Nphs1缺陷小鼠的表型定量分析

Schneider, Ronen; Mansour, Bshara; Kolvenbach, Caroline M; Buerger, Florian; Salmanullah, Daanya; Lemberg, Katharina; Merz, Lea M; Mertens, Nils D; Saida, Ken; Yousef, Kirollos; Franken, Gijs A C; Bao, Aaron; Yu, Seyoung; Hölzel, Selina; Nicolas-Frank, Camille; Steinsapir, Andrew; Goncalves, Kevin A; Shril, Shirlee; Hildebrandt, Friedhelm

Dynamic Combinatorial Chemistry Unveils Nsp10 Inhibitors with Antiviral Potential Against SARS-CoV-2

动态组合化学揭示了具有抗SARS-CoV-2病毒潜力的Nsp10抑制剂

Ravindra P Jumde ,Gwenaëlle Jézéquel ,Margarida Saramago ,Nicolas Frank ,Sebastian Adam ,Marta V Cunha ,Chantal D Bader ,Antonia P Gunesch ,Natalie M Köhler ,Sandra Johannsen ,Spyridon Bousis ,Thomas Pietschmann ,Rute G Matos ,Rolf Müller ,Cecília M Arraiano ,Anna K H Hirsch

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.

对芬兰型先天性肾病综合征的组成型基因敲除小鼠模型进行可量化和可重复的表型评估

Lemberg Katharina, Mertens Nils D, Yousef Kirollos, Schneider Ronen, Merz Lea M, Mansour Bshara, Salmanullah Daanya, Kolvenbach Caroline M, Saida Ken, Yu Seyoung, Hölzel Selina, Steinsapir Andrew, Goncalves Kevin A, Nicolas Frank Camille, Franken Gijs A C, Shril Shirlee, Buerger Florian, Hildebrandt Friedhelm

Contributions of France to the field of clinical cardiac electrophysiology and pacing

法国对临床心脏电生理学和起搏领域的贡献

Belhassen, Bernard; Lellouche, Nicolas; Frank, Robert

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

在排除NPHP1缺失后,外显子组测序在53%的肾脏超声检查中发现与纤毛病相关的家族中存在可能的致病变异。

Deutsch, Konstantin; Klämbt, Verena; Kitzler, Thomas M; Jobst-Schwan, Tilman; Schneider, Ronen; Buerger, Florian; Seltzsam, Steve; El Desoky, Sherif; Kari, Jameela A; Hafeez, Farkhanda; Szczepańska, Maria; Eid, Loai A; Awad, Hazem S; Al-Saffar, Muna; Soliman, Neveen A; Tasic, Velibor; Nicolas-Frank, Camille; Yousef, Kirollos; Schierbaum, Luca M; Schneider, Sophia; Halawi, Abdul; Elmubarak, Izzeldin; Lemberg, Katharina; Shril, Shirlee; Mane, Shrikant M; Rodig, Nancy; Hildebrandt, Friedhelm

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

反向表型分析有助于在先天性肾脏和泌尿道畸形(CAKUT)患者的外显子组测序中识别致病等位基因。

Seltzsam, Steve; Wang, Chunyan; Zheng, Bixia; Mann, Nina; Connaughton, Dervla M; Wu, Chen-Han Wilfred; Schneider, Sophia; Schierbaum, Luca; Kause, Franziska; Kolvenbach, Caroline M; Nakayama, Makiko; Dai, Rufeng; Ottlewski, Isabel; Schneider, Ronen; Deutsch, Konstantin; Buerger, Florian; Klämbt, Verena; Mao, Youying; Onuchic-Whitford, Ana C; Nicolas-Frank, Camille; Yousef, Kirollos; Pantel, Dalia; Lai, Ethan W; Salmanullah, Daanya; Majmundar, Amar J; Bauer, Stuart B; Rodig, Nancy M; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daga, Ankana; Baum, Michelle A; Daouk, Ghaleb H; Tasic, Velibor; Awad, Hazem S; Eid, Loai A; El Desoky, Sherif; Shalaby, Mohammed; Kari, Jameela A; Fathy, Hanan M; Soliman, Neveen A; Mane, Shrikant M; Shril, Shirlee; Ferguson, Michael A; Hildebrandt, Friedhelm

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

全外显子组测序鉴定出源自小鼠模型的脊柱裂潜在候选基因

Wang, Chunyan; Seltzsam, Steve; Zheng, Bixia; Wu, Chen-Han Wilfred; Nicolas-Frank, Camille; Yousef, Kirollos; Au, Kit Sing; Mann, Nina; Pantel, Dalia; Schneider, Sophia; Schierbaum, Luca; Kitzler, Thomas M; Connaughton, Dervla M; Mao, Youying; Dai, Rufeng; Nakayama, Makiko; Kari, Jameela A; El Desoky, Sherif; Shalaby, Mohammed; Eid, Loai A; Awad, Hazem S; Tasic, Velibor; Mane, Shrikant M; Lifton, Richard P; Baum, Michelle A; Shril, Shirlee; Estrada, Carlos R; Hildebrandt, Friedhelm

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

C9ORF72 与肌动蛋白丝切蛋白的相互作用调节运动神经元中的肌动蛋白动力学

Rajeeve Sivadasan, Daniel Hornburg, Carsten Drepper, Nicolas Frank, Sibylle Jablonka, Anna Hansel, Xenia Lojewski, Jared Sterneckert, Andreas Hermann, Pamela J Shaw, Paul G Ince, Matthias Mann, Felix Meissner, Michael Sendtner