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

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome

来自一种新型单基因自身炎症性疾病的启示:一项包含38例COPA综合征患者的多中心欧洲队列研究概述

David, Clémence; Nathan, Nadia; Al-Abadi, Eslam; Arkwright, Peter D; Bader-Meunier, Brigitte; Becker, Sebastian; Belot, Alexandre; Brennan, Mary; Breton, Sylvain; Bondet, Vincent; Cadranel, Jacques; Coulomb l'Hermine, Aurore; De Almeida, Sébastien; Duffy, Darragh; Poch, Teresa Clavaguera; de Becdelièvre, Alix; El Khalifi-Boulisfane, Siham; Gattorno, Marco; Gispert-Saüch, Montse; Gothe, Florian; Hatchuel, Yves; Herdliczko, Daniela; Kilinc, Ayse Ayzit; Koucky, Vaclav; Labouret, Géraldine; Manna, Raffaele; Maillard, Hélène; Matoses Ruipérez, María Luisa; Matucci-Cerinic, Caterina; Mensa-Vilaro, Anna; Michel, Katarzyna; Molina, Thierry Jo; Lopez Montesinos, Berta; Newman, William G; Papenkort, Julia; Rapp, Christina; Rames, Cinthia; Rice, Gillian I; Rose, Markus A; Reumaux, Heloise; Sailler, Laurent; Schwerk, Nicolaus; Seabra, Luis; Sellam, Jérémie; Taddio, Andrea; Thumerelle, Caroline; Tommasini, Alberto; Tusseau, Maud; Volpi, Stefano; Wetzke, Martin; Weiss, Laurence; Welfringer-Morin, Anne; Wislez, Marie; Griese, Matthias; Crow, Yanick J; Frémond, Marie-Louise

Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction

与DNASE1L3基因突变相关的血浆DNA谱:临床观察、与核酸酶底物偏好性的关系以及体内校正

Chan, Rebecca W Y; Serpas, Lee; Ni, Meng; Volpi, Stefano; Hiraki, Linda T; Tam, Lai-Shan; Rashidfarrokhi, Ali; Wong, Priscilla C H; Tam, Lydia H P; Wang, Yueyang; Jiang, Peiyong; Cheng, Alice S H; Peng, Wenlei; Han, Diana S C; Tse, Patty P P; Lau, Pik Ki; Lee, Wing-Shan; Magnasco, Alberto; Buti, Elisa; Sisirak, Vanja; AlMutairi, Nora; Chan, K C Allen; Chiu, Rossa W K; Reizis, Boris; Lo, Y M Dennis

Temporally Controlled Supramolecular Catalysts with pH-Dependent Activity

具有pH依赖性活性的时间可控超分子催化剂

Pucciarelli, Giulio; Ranieri, Francesco; Casnati, Alessandro; Di Stefano, Stefano; Volpi, Stefano; Salvio, Riccardo

Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort

单基因狼疮的遗传和表型图谱:来自国际队列研究的启示

Al-Mayouf, Sulaiman M; Ziaee, Vahid; Movahedi, Nasim; Kostik, Mikhail; Alhuthil, Raghad; Alsonbul, Abdullah; Asiri, Abdulrahman; Volpi, Stefano; Gattorno, Marco; Majeed, Mahmoud; Al Abrawi, Safiya; Yateem, Mada; Alharthi, Ashwag; Al-Saoud, Sima; Alazami, Anas M; AlSaleem, Alhanouf

Efficacy of combined JAK1/2 inhibition and cyclosporine in paediatric-onset Still's disease with lung involvement: a case report

联合使用JAK1/2抑制剂和环孢素治疗儿童期发病伴肺部受累的斯蒂尔病:病例报告

Palmeri, Serena; Lancieri, Maddalena; Ferro, Jacopo; Salvati, Pietro; Cheli, Martino; Papa, Riccardo; Rosina, Silvia; Volpi, Stefano; Vellone, Valerio Gaetano; Ravelli, Angelo; Gattorno, Marco; Caorsi, Roberta

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

DIAPH1 的遗传性缺陷揭示了由 α-肌动蛋白调控的 DNA 双链断裂修复途径

Woodward Beth L, Lahiri Sudipta, Chauhan Anoop S, Garcia Marcos Rios, Goodley Lucy E, Clarke Thomas L, Pal Mohinder, Agathanggelou Angelo, Jhujh Satpal S, Ganesh Anil N, Hollins Fay M, Deforie Valentina Galassi, Maroofian Reza, Efthymiou Stephanie, Meinhardt Andrea, Mathew Christopher G, Simpson Michael A, Mefford Heather C, Faqeih Eissa A, Rosenzweig Sergio D, Volpi Stefano, Di Matteo Gigliola, Cancrini Caterina, Scardamaglia Annarita, Shackley Fiona, Davies E Graham, Ibrahim Shahnaz, Arkwright Peter D, Zaki Maha S, Stankovic Tatjana, Taylor A Malcolm R, Mazur Antonina J, Di Donato Nataliya, Houlden Henry, Rothenberg Eli, Stewart Grant S

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

Peptide Nucleic Acid Probes for MicroRNA Detection: Mg(2+) Ion Effect, Surface Hybridization, and Surface Plasmon Resonance Biosensing

用于microRNA检测的肽核酸探针:Mg(2+)离子效应、表面杂交和表面等离子体共振生物传感

Jungbluth, Vanessa; D'Agata, Roberta; Bellassai, Noemi; Volpi, Stefano; Corradini, Roberto; Spoto, Giuseppe

Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction

与DNASE1L3基因突变相关的血浆DNA谱:临床观察、与核酸酶底物偏好性的关系以及体内校正

Chan, Rebecca W Y; Serpas, Lee; Ni, Meng; Volpi, Stefano; Hiraki, Linda T; Tam, Lai-Shan; Rashidfarrokhi, Ali; Wong, Priscilla C H; Tam, Lydia H P; Wang, Yueyang; Jiang, Peiyong; Cheng, Alice S H; Peng, Wenlei; Han, Diana S C; Tse, Patty P P; Lau, Pik Ki; Lee, Wing-Shan; Magnasco, Alberto; Buti, Elisa; Sisirak, Vanja; AlMutairi, Nora; Chan, K C Allen; Chiu, Rossa W K; Reizis, Boris; Lo, Y M Dennis

Editorial: Case reports in autoimmune and autoinflammatory disorders

社论:自身免疫和自身炎症性疾病的病例报告

Wincup, Chris; Vaglio, Augusto; Volpi, Stefano; Ghiggeri, Gian Marco