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

Notch3 destabilizes regulatory T cells to drive autoimmune neuroinflammation in multiple sclerosis

Notch3 使调节性 T 细胞不稳定,从而驱动多发性硬化症中的自身免疫性神经炎症

Mehdi Benamar,Paola Contini,Klaus Schmitz-Abe,Olga Lanzetta,Feven Getachew,Corinne Bachelin,Juan Manuel Leyva Castillo,Muyun Wang,Fatma Betul Oktelik,Océane Perrot,Yvann Batamack,Sena Nur Arbag,Emmanuel Stephen-Victor,Hani Harb,Pankaj B Agrawal,Céline Louapre,Federico Ivaldi,Antonio Uccelli,Matilde Inglese,Claudia Angelini,Violetta Zujovic,Raffaele De Palma,Talal A Chatila

Notch3 destabilizes regulatory T cells to drive autoimmune neuroinflammation in multiple sclerosis

Notch3 使调节性 T 细胞不稳定,从而驱动多发性硬化症中的自身免疫性神经炎症

Mehdi Benamar ,Paola Contini ,Klaus Schmitz-Abe ,Olga Lanzetta ,Feven Getachew ,Corinne Bachelin ,Juan Manuel Leyva Castillo ,Muyun Wang ,Fatma Betul Oktelik ,Océane Perrot ,Yvann Batamack ,Sena Nur Arbag ,Emmanuel Stephen-Victor ,Hani Harb ,Pankaj B Agrawal ,Céline Louapre ,Federico Ivaldi ,Antonio Uccelli ,Matilde Inglese ,Claudia Angelini ,Violetta Zujovic ,Raffaele De Palma ,Talal A Chatila

Unique signatures of highly constrained genes across publicly available genomic databases

公开基因组数据库中高度受限基因的独特特征

Schmitz-Abe, Klaus; Li, Qifei; Greene, Sunny; Borrelli, Michela; Luo, Shiyu; Ramesh, Madesh C; Agrawal, Pankaj B

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis

超越皮肤层面:ALOX12B相关常染色体隐性先天性鱼鳞病的免疫学特征和感染并发症

Sefer, Asena Pinar; Catak, Mehmet Cihangir; An, Isa; Keser Ozturk, Necmiye; Baykal Selcuk, Leyla; Dincer, Oguz Salih; Benamar, Mehdi; Getachew, Feven; Schmitz-Abe, Klaus; Agrawal, Pankaj B; Bayram Catak, Feyza; Erman, Baran; Bilgic Eltan, Sevgi; Karakoc Aydiner, Elif; Ozen, Ahmet; Chatila, Talal; Baris, Safa

Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex

综合多组学方法揭示横纹肌优先表达蛋白激酶在骨骼肌中的作用及其与肌蛋白复合物的关系

Qifei Li, Jasmine Lin, Shiyu Luo, Klaus Schmitz-Abe, Rohan Agrawal, Melissa Meng, Behzad Moghadaszadeh, Alan H Beggs, Xiaoli Liu, Mark A Perrella, Pankaj B Agrawal

DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome

两个患有高IgE综合征的家族中,DOCK8缺陷是由深内含子变异引起的。

Fatma Betul Oktelik ,Muyun Wang ,Sevgi Keles ,Hatice Eke Gungor ,Murat Cansever ,Salim Can ,Elif Karakoc-Aydiner ,Safa Baris ,Klaus Schmitz-Abe ,Mehdi Benamar ,Talal A Chatila

Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency

阿根廷常见变异型免疫缺陷患者队列中与生存相关的免疫学生物标志物

Kahn, Adrian; Luque, Gabriela; Cuestas, Eduardo; Basquiera, Ana; Ricchi, Brenda; Schmitz-Abe, Klaus; Charbonnier, Louis-Marie; Benamar, Mehdi; Motrich, Ruben Dario; Chatila, Talal A; Rivero, Virginia E

Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6

STAT6转录因子功能获得性突变导致的严重过敏性失调

Safa Baris ,Mehdi Benamar ,Qian Chen ,Mehmet Cihangir Catak ,Mónica Martínez-Blanco ,Muyun Wang ,Jason Fong ,Michel J Massaad ,Asena Pinar Sefer ,Altan Kara ,Royala Babayeva ,Sevgi Bilgic Eltan ,Ayse Deniz Yucelten ,Emine Bozkurtlar ,Leyla Cinel ,Elif Karakoc-Aydiner ,Yumei Zheng ,Hao Wu ,Ahmet Ozen ,Klaus Schmitz-Abe ,Talal A Chatila

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

TBX4基因内含子变异导致一个家族出现不同程度的严重肺部症状

Flanagan, Frances O; Holtz, Alexander M; Vargas, Sara O; Genetti, Casie A; Schmitz-Abe, Klaus; Casey, Alicia; Kennedy, John C; Raby, Benjamin A; Mullen, Mary P; Fishman, Martha P; Agrawal, Pankaj B