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

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation

靶向深度测序可识别免疫失调患者的嵌合现象

Schmitz, Elizabeth G; Paul, Alexander J; Ghosh, Rajarshi; Saucier, Nermina; Kolicheski, Ana; Risma, Samuel I; McDaniels, Kristen P; Liu, Michelle; Lewis, Katie L; de Jesus, Adriana A; Alehashemi, Sara; Fronick, Catrina C; Stein, David; Dominguez, Daniela; Hiraki, Linda T; Lee, Jessica H; Norman, Stephanie; Peng, Christine R; Ward, Brant R; Pettiford, Leah H; Platt, Anna; Lawrence, Monica G; Rocco, Joseph M; Al-Herz, Waleed; Zerbe, Christa S; Atkinson, T Prescott; Peng, Xiao P; Allenspach, Eric J; Hoytema van Konijnenburg, David P; Platt, Craig D; Elkins, Megan; Walter, Jolan E; Bleesing, Jack J; Klion, Amy; Ramaswami, Ramya; Uzel, Gulbu; Lionakis, Michail S; Dissanayake, Dilan; Su, Helen C; Cortese, Irene; Fuss, Ivan J; Bergerson, Jenna R E; Dropulic, Lesia; Sereti, Irini; Lisco, Andrea; Itan, Yuval; Milner, Joshua D; Bogunovic, Dusan; Goldbach-Mansky, Raphaela; Rao, V Koneti; Delmonte, Ottavia M; Notarangelo, Luigi D; Keller, Michael D; Durkee-Shock, Jessica; Cohen, Jeffrey I; Similuk, Morgan N; Holland, Steven M; Griffith, Malachi; Griffith, Obi L; Vogel, Tiphanie P; Canna, Scott; Freeman, Alexandra F; Walkiewicz, Magdalena A; Cooper, Megan A

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

STING-STAT3-SOX18 Axis Drives EndMT and Epigenetic Reprogramming in SAVI Lung Fibrosis

STING-STAT3-SOX18轴驱动SAVI肺纤维化中的内皮间质转化和表观遗传重编程

Yang, Dan; Chen, Guibin; Gaurav, Sachin; de Jesus, Adriana A; Mehta, Atul K; McNinch, Colton; Miranda, Adam X; Wei, Jinzhi; Kedei, Noemi; Hernandez, Maria Olga; Zou, Jizhong; Linask, Kaari; Lee, Chyi-Chia; Sukumar, Gauthaman; Zhang, Ying; Alehashemi, Sara; Folio, Les; Yu, Quan; Lin, Bin; Lang, Bianca; Buehring, Bjoern; Dueckers, Gregor; Reinhardt, Adam; Schulte, Gregory; Liptzin, Deborah R; Ozen, Seza; Borzutzky, Arturo; Wong, Madeline; Tillo, Desiree; Dmitrieva, Natalia I; Mani, Haresh; Nathan, Steven D; Kovacic, Jason C; Dalgard, Clifton; Boehm, Manfred; Goldbach-Mansky, Raphaela

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

The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1

干扰素-γ在自身免疫性多内分泌综合征1型中的作用

Oikonomou, Vasileios; Smith, Grace; Constantine, Gregory M; Schmitt, Monica M; Ferré, Elise M N; Alejo, Julie C; Riley, Deanna; Kumar, Dhaneshwar; Dos Santos Dias, Lucas; Pechacek, Joseph; Hadjiyannis, Yannis; Webb, Taura; Seifert, Bryce A; Ghosh, Rajarshi; Walkiewicz, Magdalena; Martin, Daniel; Besnard, Marine; Snarr, Brendan D; Deljookorani, Shiva; Lee, Chyi-Chia R; DiMaggio, Tom; Barber, Princess; Rosen, Lindsey B; Cheng, Aristine; Rastegar, Andre; de Jesus, Adriana A; Stoddard, Jennifer; Kuehn, Hye Sun; Break, Timothy J; Kong, Heidi H; Castelo-Soccio, Leslie; Colton, Ben; Warner, Blake M; Kleiner, David E; Quezado, Martha M; Davis, Jeremy L; Fennelly, Kevin P; Olivier, Kenneth N; Rosenzweig, Sergio D; Suffredini, Anthony F; Anderson, Mark S; Swidergall, Marc; Guillonneau, Carole; Notarangelo, Luigi D; Goldbach-Mansky, Raphaela; Neth, Olaf; Monserrat-Garcia, Maria Teresa; Valverde-Fernandez, Justo; Lucena, Jose Manuel; Gomez-Gila, Ana Lucia; Garcia Rojas, Angela; Seppänen, Mikko R J; Lohi, Jouko; Hero, Matti; Laakso, Saila; Klemetti, Paula; Lundberg, Vanja; Ekwall, Olov; Olbrich, Peter; Winer, Karen K; Afzali, Behdad; Moutsopoulos, Niki M; Holland, Steven M; Heller, Theo; Pittaluga, Stefania; Lionakis, Michail S

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

Savvy About SAVI

了解 SAVI

Liptzin, Deborah R; Cole, Lyndsey; Schulte, Greg; Curtis, Donna; Curran, Megan L; Alehashemi, Sara; Goldbach-Mansky, Raphaela; Galambos, Csaba; Deutsch, Gail; Weinman, Jason P

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