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

ACTN4 p.Ile150Met Causes FSGS With Validation in Primary Fibroblasts and Immortalized Podocytes

ACTN4 p.Ile150Met 突变导致 FSGS,并在原代成纤维细胞和永生化足细胞中得到验证

Grosch, Melanie; Haak, Jan René; Kolb, Cathiana; Plogmann, Izabela; Guaragna, Mara Sanches; Wiesener, Antje; Pasutto, Francesca; Wopperer, Florian J; Pollinger, Lena; Engel, Felix B; Wiesener, Michael S; Schiffer, Mario; Jobst-Schwan, Tilman

MYH9 Variant p.(Arg424Gly) Alters Nonmuscle Myosin IIA Contraction, Causing Atypical MYH9-related Disease

MYH9 变异 p.(Arg424Gly) 会改变非肌肉肌球蛋白 IIA 的收缩,导致非典型 MYH9 相关疾病

Pollinger, Lena; Greve, Johannes N; Grosch, Melanie; Kaliman, Sara; Abuhattum, Shada; Kräter, Martin; Brauer, Ina; Schaefer, Jan T; Pasutto, Francesca; Wiesener, Antje; Wopperer, Florian J; Kolb, Cathiana; Lehmann, Christian H K; Hoerning, André; Daniel, Christoph; Amann, Kerstin; Guck, Jochen; Schiffer, Mario; Manstein, Dietmar J; Wiesener, Michael S; Jobst-Schwan, Tilman

Dysregulated Protease Homeostasis Defines Primary FSGS

蛋白酶稳态失调是原发性局灶节段性肾小球硬化症的特征。

Schmidt, Johannes; Sopel, Nina; Rist, Carmen; Ohs, Alexandra; Dawid, Laura; Simm, Stefan; Catanese, Lorenzo; Rupprecht, Harald; Jobst-Schwan, Tilman; Lehmann, Jörg; Daniel, Christoph; Kalkhof, Stefan; Schiffer, Mario; Müller-Deile, Janina

Pharmacodynamic effect of mTOR inhibition-based immunosuppressive therapy on dendritic cell and natural killer cell subsets after renal transplantation

mTOR抑制剂免疫抑制疗法对肾移植后树突状细胞和自然杀伤细胞亚群的药效学影响

Weber, Sabine; Wei, Xinyi; Chen, Guixia; Yankouskaya, Katharina; Yin, Decheng; Allabauer, Ida; Jobst-Schwan, Tilman; Wiesener, Michael; Schiffer, Mario; Dudziak, Diana; Lehmann, Christian H K; Woelfle, Joachim; Hoerning, André

Epigenomic and phenotypic characterization of DEGCAGS syndrome

DEGCAGS综合征的表观基因组学和表型特征分析

Karimi, Karim; Weis, Denisa; Aukrust, Ingvild; Hsieh, Tzung-Chien; Horackova, Marie; Paulsen, Julie; Mendoza Londono, Roberto; Dupuis, Lucie; Dickson, Megan; Lesman, Hellen; Lau, Tracy; Murphy, David; Hama Salih, Khalid; Al-Musawi, Bassam M S; Al-Obaidi, Ruqayah G Y; Rydzanicz, Malgorzata; Biela, Mateus; Santos, Mafalda Saraiva; Aldeeri, Abdulrahman; Gazda, Hanna T; Pais, Lynn; Shril, Shirlee; Døllner, Henrik; Bartakke, Sandip; Laccone, Franco; Soltysova, Andrea; Kitzler, Thomas; Soliman, Neveen A; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; Rzasa, Jessica; Houlden, Henry; Pilshofer, Gabriela V; Jobst-Schwan, Tilman; Hildebrandt, Friedhelm; Sousa, Sergio B; Maroofian, Reza; Yu, Timothy W; Krawitz, Peter; Sadikovic, Bekim; Douzgou Houge, Sofia

Pharmacodynamic Effect of mTOR Inhibition-based Immunosuppressive Therapy on T- and B-cell Subsets After Renal Transplantation

mTOR抑制剂免疫抑制疗法对肾移植后T细胞和B细胞亚群的药效学影响

Wei, Xinyi; Weber, Sabine; Yin, Decheng; Allabauer, Ida; Jobst-Schwan, Tilman; Wiesener, Michael; Schiffer, Mario; Dudziak, Diana; Lehmann, Christian H K; Woelfle, Joachim; Hoerning, Andre

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

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis

OXGR1是人类草酸钙肾结石的候选致病基因

Majmundar, Amar J; Widmeier, Eugen; Heneghan, John F; Daga, Ankana; Wu, Chen-Han Wilfred; Buerger, Florian; Hugo, Hannah; Ullah, Ihsan; Amar, Ali; Ottlewski, Isabel; Braun, Daniela A; Jobst-Schwan, Tilman; Lawson, Jennifer A; Zahoor, Muhammad Yasir; Rodig, Nancy M; Tasic, Velibor; Nelson, Caleb P; Khaliq, Shagufta; Schönauer, Ria; Halbritter, Jan; Sayer, John A; Fathy, Hanan M; Baum, Michelle A; Shril, Shirlee; Mane, Shrikant; Alper, Seth L; Hildebrandt, Friedhelm

Adhesion GPCR Gpr126 (Adgrg6) Expression Profiling in Zebrafish, Mouse, and Human Kidney

斑马鱼、小鼠和人类肾脏中的粘附 GPCR Gpr126 (Adgrg6) 表达谱

Salvador Cazorla-Vázquez, Peter Kösters, Simone Bertz, Frederick Pfister, Christoph Daniel, Mark Dedden, Sebastian Zundler, Tilman Jobst-Schwan, Kerstin Amann, Felix B Engel

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

全外显子组测序鉴定出ATP6V1C2是隐性远端肾小管酸中毒的新候选基因。

Jobst-Schwan, Tilman; Klämbt, Verena; Tarsio, Maureen; Heneghan, John F; Majmundar, Amar J; Shril, Shirlee; Buerger, Florian; Ottlewski, Isabel; Shmukler, Boris E; Topaloglu, Rezan; Hashmi, Seema; Hafeez, Farkhanda; Emma, Francesco; Greco, Marcella; Laube, Guido F; Fathy, Hanan M; Pohl, Martin; Gellermann, Jutta; Milosevic, Danko; Baum, Michelle A; Mane, Shrikant; Lifton, Richard P; Kane, Patricia M; Alper, Seth L; Hildebrandt, Friedhelm