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

Clinical relevance of mosaic variants detected by exome sequencing

外显子组测序检测到的嵌合变异的临床意义

Ghosh, Rajarshi; Fazal, Zeeshan; Oler, Andrew J; Tokita, Mari J; Lewis, Katie L; Paul, Alexander J; Schmitz, Elizabeth G; Saucier, Nermina; Yan, Jia; Kamen, Michael; Seifert, Bryce A; Klion, Amy D; Khoury, Paneez; Delmonte, Ottavia M; Notarangelo, Luigi D; Freeman, Alexandra F; Zerbe, Christa S; Uzel, Gulbu; Metcalfe, Dean D; Komarow, Hirsh D; Carter, Melody C; McDermott, David H; Murphy, Philip M; Olivier, Kenneth N; Fuss, Ivan; Strober, Warren; Rao, V Koneti; Bergerson, Jenna R E; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Al-Herz, Waleed; Holland, Steven M; Cooper, Megan A; Similuk, Morgan N; Walkiewicz, Magdalena A

A CD4+ T cell-intrinsic complement C5aR2-prostacyclin-IL-1R2 axis orchestrates Th1 cell contraction

CD4+ T细胞内在补体C5aR2-前列环素-IL-1R2轴协调Th1细胞收缩

Jubayer Rahman,Jack A Bibby,Parul Singh,Nicolas S Merle,Erin E West,Andrea Bohrer,Katrin Mayer-Barber,Chengyu Liu,Lauren R Brinster,Behdad Afzali,Ana M Briones,Sara Alehashemi,Farzana Bhuyan,Jiahui Ge,Xijian Chen,Yingbi Zhou,Murray C H Clarke,Bin Liu,Raphaela Goldbach-Mansky,C Henrique Serezani,Claudia Kemper

A CD4+ T cell-intrinsic complement C5aR2-prostacyclin-IL-1R2 axis orchestrates Th1 cell contraction

CD4+ T细胞内在补体C5aR2-前列环素-IL-1R2轴协调Th1细胞收缩

Jubayer Rahman ,Jack A Bibby ,Parul Singh ,Nicolas S Merle ,Erin E West ,Andrea Bohrer ,Katrin Mayer-Barber ,Chengyu Liu ,Lauren R Brinster ,Behdad Afzali ,Ana M Briones ,Sara Alehashemi ,Farzana Bhuyan ,Jiahui Ge ,Xijian Chen ,Yingbi Zhou ,Murray C H Clarke ,Bin Liu ,Raphaela Goldbach-Mansky ,C Henrique Serezani ,Claudia Kemper

Clemastine fumarate accelerates accumulation of disability in progressive multiple sclerosis by enhancing pyroptosis.

富马酸克莱马斯汀通过增强细胞焦亡加速进行性多发性硬化症患者的残疾程度

Kocot Joanna, Kosa Peter, Ashida Shinji, Pirjanian Nicolette A, Goldbach-Mansky Raphaela, Peterson Karin, Fossati Valentina, Holland Steven M, Bielekova Bibiana

Sustained Interferon Signature Suppression With Anifrolumab in a Patient With STING-Associated Vasculopathy with Onset in Infancy Refractory to JAK Inhibitor and Dazukibart Therapy

在一名婴儿期发病、对JAK抑制剂和达祖基巴特疗法无效的STING相关血管病患者中,使用阿尼弗鲁单抗可持续抑制干扰素特征。

Alehashemi, Sara; Buehring, Bjoern; de Jesus, Adriana A; Gaurav, Sachin; Rastegar, Andre; Baumgardner, Alexi; Friend, Kip; Arisa, Oluwatobi T; Figg, William D; Fink, Danielle; Kuhns, Douglas B; Colton, Ben; Peer, Cody J; Goldbach-Mansky, Raphaela

Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis.

与 CANDLE 综合征相关的蛋白酶体突变通过扰乱多胺合成导致神经元发育异常

Winkler Clayton W, Schwarz Benjamin, Williams Katie, Alehashemi Sara, Foliaki Simote T, Snow Joseph, Joseph Lisa, Thurm Audrey, Friend Christopher, Cooper Gwendolyn, Bohrnsen Eric, Bhuyan Farzana, Brandes Nathan T, Moaddel Ruin, Boehm Manfred, Chen Guibin, Kimzey Cole D, Bielekova Bibiana, Kocot Joanna, Kosa Peter, Haigh Cathryn L, Goldbach-Mansky Raphaela, Peterson Karin E

Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS

CANDLE/PRAAS 研究显示,巴瑞替尼剂量减少会导致疾病复发,并出现复发标准。

Cetin Gedik, Kader; Ortega-Villa, Ana M; Materne, Grace; Rastegar, Andre; Montealegre Sanchez, Gina A; Reinhardt, Adam; Brogan, Paul A; Berkun, Yackov; Murias, Sara; Robles, Maria; Schalm, Susanne; de Jesus, Adriana A; Goldbach-Mansky, Raphaela

Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress

高尔基体捕获 CDC42 的自身炎症患者表现出细胞内运输缺陷,导致 STING 过度活化和 ER 应激

Alberto Iannuzzo, Selket Delafontaine, Rana El Masri, Rachida Tacine, Giusi Prencipe, Masahiko Nishitani-Isa, Rogier T A van Wijck, Farzana Bhuyan, Adriana A de Jesus Rasheed, Simona Coppola, Paul L A van Daele, Antonella Insalaco, Raphaela Goldbach-Mansky, Takahiro Yasumi, Marco Tartaglia, Isabelle

Anakinra-associated renal amyloidosis

阿那白滞素相关肾淀粉样变性

Nasr, Samih H; Alehashemi, Sara; Dasari, Surendra; Waldman, Meryl; Afzali, Behdad; Chiu, April; Bolanos, Jonathan; Goldbach-Mansky, Raphaela; McPhail, Ellen D

Anakinra-Associated Systemic Amyloidosis

阿那白滞素相关性系统性淀粉样变性

Alehashemi, Sara; Dasari, Surendra; Metpally, Anvitha; Uss, Kat; Castelo-Soccio, Leslie A; Heller, Theo; Kellman, Peter; Chen, Marcus Y; Ahlman, Mark; Kim, Jeff; Wargo, Susannah; Kuhns, Douglas B; Fink, Danielle; de Jesus, Adriana; Martin, Paul S; Chang, Richard; Bolanos, Jonathan; Lee, Chyi-Chia Richard; Nasr, Samih H; Goldbach-Mansky, Raphaela; McPhail, Ellen