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

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden

UBA1 突变负荷广泛范围内 VEXAS 综合征的临床表现

Anderson, Meghan; Ercelen, Defne; Richardson, Ashley; Kim, Jung; Torene, Rebecca I; Sirenko, Maria; Haley, Jeremy S; Cook, Adam; Hill, Wesley; Dove, James; Retterer, Kyle; Carroll, Eitan; Carey, David J; Asgari, Samira; Stewart, Douglas R; Beck, David B

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

美国风湿病学会关于VEXAS诊断和治疗的指导声明,由国际VEXAS工作组专家组制定

Mekinian, Arsene; Georgin-Lavialle, Sophie; Ferrada, Marcela A; Savic, Sinisa; Koster, Matthew J; Kosmider, Olivier; Comont, Thibault; Heiblig, Mael; Arostegui, Juan I; Bosco, Annmarie; Bourguiba, Rim; Calvo, Katherine R; Cargo, Catherine; Cattaneo, Chiara; Chasset, François; Coelho, Henrique; Campochiaro, Corrado; Crisafulli, Francesca; Ducharme-Benard, Stephanie; Faria, Raquel; Franceschini, Franco; Frassi, Micol; Groarke, Emma M; Gurnari, Carmelo; Hakobyan, Yervand; Jamilloux, Yvan; Jurcut, Ciprian; Kirino, Yohei; Kulasekararaj, Austin; Kunimoto, Hiroyoshi; Madigan, Lauren M; Mann, Heřman F; Marvisi, Chiara; Milchert, Marcin; Morais, Sara; Sockel, Katja; Muratore, Francesco; Nakajima, Hideaki; Patnaik, Mrinal M; Regadas, Luísa; Robin, Marie; Rutgers, Abraham; Salvarani, Carlo; Sammel, Anthony M; Seebach, Joerg; Sujobert, Pierre; Tomelleri, Alessandro; Urbanski, Geoffrey; Vandergheynst, Frédéric; Vieira, Romana; Viswanatha, David S; Więsik-Szewczyk, Ewa; Diral, Elisa; Terrier, Benjamin; Patel, Bhavisha A; Fenaux, Pierre; Grayson, Peter C; Beck, David B

PAXIS: A Randomized, Double-Blind, Placebo-Controlled, Dose-Finding Phase 2 Study (Part 1) Followed by an Open-Label Period (Part 2) to Assess the Efficacy and Safety of Pacritinib in Patients with VEXAS Syndrome

PAXIS:一项随机、双盲、安慰剂对照、剂量探索性 II 期研究(第一部分)及后续开放标签期(第二部分),旨在评估帕克替尼治疗 VEXAS 综合征患者的疗效和安全性

Beck, David B; Heiblig, Maël; Savic, Sinisa; Ferrada, Marcela A; Mekinian, Arsène; Chowdhury, Onima; Hammond, Danielle; Weeks, Lachelle D; Gurnari, Carmelo; Kirino, Yohei; Georgin-Lavialle, Sophie; Buckley, Sarah A; Garcha, Raman; Harder, Bryan G; Koster, Matthew J

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations

VEXAS致病性UBA1 M41突变和复发性功能性非M41突变的独特特征

Sakuma, Maki; Wang, Amy K; Magaziner, Samuel J; Keane, Sachiko P; Meggendorfer, Manja; Kern, Wolfgang; Haferlach, Claudia; Haferlach, Torsten; Beck, David B; Walter, Wencke

The common HAQ STING allele prevents clinical penetrance of COPA syndrome.

常见的 HAQ STING 等位基因可阻止 COPA 综合征的临床表现

Simchoni Noa, Koide Shogo, Likhite Maryel, Kuchitsu Yoshihiko, Kadirvel Senkottuvelan, Law Christopher S, Elicker Brett M, Kurra Santosh, Wong Margaret Mei-Kay, Yuan Bo, Grossi Alice, Laxer Ronald M, Volpi Stefano, Dissanayake Dilan, Taguchi Tomohiko, Beck David B, Vogel Tiphanie P, Shum Anthony K

Clinical features in VEXAS syndrome: a systematic review

VEXAS综合征的临床特征:系统性综述

Al-Hakim, Adam; Goldberg, Scott; Gaillard, Ségolène; Heiblig, Maël; Beck, David B; Savic, Sinisa

Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome

在VEXAS综合征患者中快速开展UBA1检测的临床应用

Wadsworth, Paul A; Chen, Simon B; Lawrence, Lauren; Ho, Chandler C; Le, Joseph E; Libiran, Paolo; Grayson, Peter C; Ferrada, Marcela A; Beck, David B; Suarez, Carlos J

Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2

两名互不相关的患者因DNASE2基因近端内含子剪接位点变异而发生I型干扰素介导的自身炎症

Schnappauf, Oskar; Wang, Hongying; Zhou, Qing; Burlakov, Vasily; Kozlova, Anna; Beck, David B; Moura, Natalia Sampaio; Deuitch, Natalie T; Tsai, Wanxia Li; Gadina, Massimo; Hoffmann, Patrycja; Ombrello, Amanda K; Zakharova, Victoria; Kieva, Amina; Raikina, Elena; Ricucci, Federica; Kastner, Daniel L; Shcherbina, Anna; Aksentijevich, Ivona

Announcing the Early Career Board of ACS Medicinal Chemistry Letters

ACS药物化学快报青年学者委员会成员名单公布

Sirenko, Maria; Bernard, Elsa; Creignou, Maria; Domenico, Dylan; Farina, Andrea; Arango Ossa, Juan E; Kosmider, Olivier; Hasserjian, Robert; Jädersten, Martin; Germing, Ulrich; Sanz, Guillermo; van de Loosdrecht, Arjan A; Gurnari, Carmelo; Follo, Matilde Yung; Thol, Felicitas; Zamora, Lurdes; Pinheiro, Ronald Feitosa; Pellagatti, Andrea; Elias, Harold K; Haase, Detlef; Sander, Birgitta; Orna, Elisa; Zoldan, Katharina; Eder, Lea Naomi; Sperr, Wolfgang R; Thalhammer, Renate; Ganster, Christina; Adès, Lionel; Tobiasson, Magnus; Palomo, Laura; Della Porta, Matteo Giovanni; Huberman, Kety; Fenaux, Pierre; Belickova, Monika; Savona, Michael R; Klimek, Virginia M; Santos, Fabio P S; Boultwood, Jacqueline; Kotsianidis, Ioannis; Santini, Valeria; Solé, Francesc; Platzbecker, Uwe; Heuser, Michael; Valent, Peter; Finelli, Carlo; Voso, Maria Teresa; Shih, Lee-Yung; Ogawa, Seishi; Fontenay, Michaela; Jansen, Joop H; Cervera, Jose; Ebert, Benjamin L; Bejar, Rafael; Greenberg, Peter L; Gattermann, Norbert; Malcovati, Luca; Cazzola, Mario; Beck, David B; Hellström-Lindberg, Eva; Papaemmanuil, Elli; Baranczak, Aleksandra; Bigi-Botterill, Simone V; Borsari, Chiara; Dombrowski, Amanda W; Estrada, Michelle A; Farrell, Mark P; Riley, Andrew P; Woodland, John G