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

Distinct Effects of Complement C4A and C4B Copy Numbers in Systemic Sclerosis Serological and Clinical Subtypes

补体C4A和C4B拷贝数在系统性硬化症血清学和临床亚型中的不同作用

Martínez-López, Javier; Rangel-Peláez, Carlos; Rodriguez-Martin, Inmaculada; Guillen-Del-Castillo, Alfredo; Simeón-Aznar, Carmen P; Callejas, José L; Distler, Oliver; Proudman, Susanna M; Nikpour, Mandana; Hunzelmann, Nicolas; Moroncini, Gianluca; de Vries-Bouwstra, Jeska K; Herrick, Ariane L; Allanore, Yannick; Alarcon-Riquelme, Marta E; Beretta, Lorenzo; Assassi, Shervin; Denton, Christopher P; Mayes, Maureen D; Martin, Javier; Acosta-Herrera, Marialbert; Kerick, Martin

Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk

整合外显子组测序和机器学习技术发现,MICB 和干扰素通路基因是系统性硬化症风险的促成因素。

Ketkar, Shamika; Dai, Hongzheng; Burrage, Lindsay; Murdock, David; Dawson, Brian; Acosta-Herrera, Marialbert; Kerick, Martin; Martin, Javier; Wilhelm, Kevin; Asmussen, Jennifer Kay; Lichtarge, Olivier; Center, Regeneron Genetics; Assassi, Shervin; Mayes, Maureen D; Lee, Brendan H

Unraveling the molecular landscape of Erdheim-Chester disease: new insights from methylome and transcriptome integration

揭示埃尔德海姆-切斯特病的分子图谱:来自甲基化组和转录组整合的新见解

Cerván-Martín, Miriam; Pegoraro, Francesco; Martínez-López, Javier; Rodriguez-Martin, Inmaculada; Márquez, Ana; Ortiz-Fernández, Lourdes; Acosta-Herrera, Marialbert; Kerick, Martin; Andrés-León, Eduardo; Catamerò, Francesco; Papo, Matthias; Cohen-Aubart, Fleur; Amoura, Zahir; Haroche, Julien; Vaglio, Augusto; Martín, Javier

A Strong Dysregulated Myeloid Component in the Epigenetic Landscape of Systemic Sclerosis: An Integrated DNA Methylome and Transcriptome Analysis

系统性硬化症表观遗传图谱中髓系成分的显著失调:一项整合DNA甲基化组和转录组分析

Martínez-López, Javier; Ortiz-Fernandez, Lourdes; Estupiñán-Moreno, Elkyn; Kerick, Martin; Andrés-León, Eduardo; Terron-Camero, Laura C; Carnero-Montoro, Elena; Barturen, Guillermo; Beretta, Lorenzo; Almeida, Isabel; Alarcón-Riquelme, Marta E; Ballestar, Esteban; Acosta-Herrera, Marialbert; Martín, Javier

Assessing the MUC5B promoter variant in a large cohort of systemic sclerosis-associated interstitial lung disease

在大样本系统性硬化症相关间质性肺疾病队列中评估MUC5B启动子变异

Rosa-Baez, Carlos; Rangel-Pelaez, Carlos; Rodriguez-Martin, Inmaculada; Kerick, Martin; Guillen-Del-Castillo, Alfredo; Simeon-Aznar, Carmen P; Callejas, José Luis; Voskuyl, Alexandre E; Kreuter, Alexander; Distler, Oliver; Proudman, Susanna M; Nikpour, Mandana; Hunzelmann, Nicolas; De Vries-Bouwstra, Jeska K; Herrick, Ariane L; Allanore, Yannick; Beretta, Lorenzo; Mayes, Maureen D; Denton, Christopher P; Assassi, Shervin; Martin, Javier; Acosta-Herrera, Marialbert

Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease

全基因组关联研究发现首个与埃尔德海姆-切斯特病相关的种系遗传变异

Martínez-López, Javier; Márquez, Ana; Pegoraro, Francesco; Ortiz-Fernández, Lourdes; Acosta-Herrera, Marialbert; Kerick, Martin; Gelain, Elena; Diamond, Eli L; Durham, Benjamin H; Abdel-Wahab, Omar; Go, Ronald S; Koster, Matthew J; Dagna, Lorenzo; Campochiaro, Corrado; Collin, Matthew; Milne, Paul; Estrada-Veras, Juvianee I; O'Brien, Kevin; Papo, Matthias; Cohen-Aubar, Fleur; Amoura, Zahir; Haroche, Julien; Martín, Javier; Vaglio, Augusto

FLT3 functional low-frequency variant rs76428106-C is associated with susceptibility to systemic sclerosis

FLT3功能性低频变异rs76428106-C与系统性硬化症的易感性相关

Martínez-López, Javier; Kerick, Martin; Ortiz-Fernández, Lourdes; Acosta-Herrera, Marialbert; Márquez, Ana; Martín, Javier

Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

补体成分C4的结构变异和数量性状导致系统性硬化症中存在性别偏倚的易感性

Kerick, Martin; Acosta-Herrera, Marialbert; Simeón-Aznar, Carmen Pilar; Callejas, José Luis; Assassi, Shervin; Proudman, Susanna M; Nikpour, Mandana; Hunzelmann, Nicolas; Moroncini, Gianluca; de Vries-Bouwstra, Jeska K; Orozco, Gisela; Barton, Anne; Herrick, Ariane L; Terao, Chikashi; Allanore, Yannick; Fonseca, Carmen; Alarcón-Riquelme, Marta Eugenia; Radstake, Timothy R D J; Beretta, Lorenzo; Denton, Christopher P; Mayes, Maureen D; Martin, Javier

Detailed stratified GWAS analysis for severe COVID-19 in four European populations

针对四个欧洲人群中重症 COVID-19 的详细分层 GWAS 分析

Degenhardt, Frauke; Ellinghaus, David; Juzenas, Simonas; Lerga-Jaso, Jon; Wendorff, Mareike; Maya-Miles, Douglas; Uellendahl-Werth, Florian; ElAbd, Hesham; Rühlemann, Malte C; Arora, Jatin; Özer, Onur; Lenning, Ole Bernt; Myhre, Ronny; Vadla, May Sissel; Wacker, Eike M; Wienbrandt, Lars; Blandino Ortiz, Aaron; de Salazar, Adolfo; Garrido Chercoles, Adolfo; Palom, Adriana; Ruiz, Agustín; Garcia-Fernandez, Alba-Estela; Blanco-Grau, Albert; Mantovani, Alberto; Zanella, Alberto; Holten, Aleksander Rygh; Mayer, Alena; Bandera, Alessandra; Cherubini, Alessandro; Protti, Alessandro; Aghemo, Alessio; Gerussi, Alessio; Ramirez, Alfredo; Braun, Alice; Nebel, Almut; Barreira, Ana; Lleo, Ana; Teles, Ana; Kildal, Anders Benjamin; Biondi, Andrea; Caballero-Garralda, Andrea; Ganna, Andrea; Gori, Andrea; Glück, Andreas; Lind, Andreas; Tanck, Anja; Hinney, Anke; Carreras Nolla, Anna; Fracanzani, Anna Ludovica; Peschuck, Anna; Cavallero, Annalisa; Dyrhol-Riise, Anne Ma; Ruello, Antonella; Julià, Antonio; Muscatello, Antonio; Pesenti, Antonio; Voza, Antonio; Rando-Segura, Ariadna; Solier, Aurora; Schmidt, Axel; Cortes, Beatriz; Mateos, Beatriz; Nafria-Jimenez, Beatriz; Schaefer, Benedikt; Jensen, Björn; Bellinghausen, Carla; Maj, Carlo; Ferrando, Carlos; de la Horra, Carmen; Quereda, Carmen; Skurk, Carsten; Thibeault, Charlotte; Scollo, Chiara; Herr, Christian; Spinner, Christoph D; Gassner, Christoph; Lange, Christoph; Hu, Cinzia; Paccapelo, Cinzia; Lehmann, Clara; Angelini, Claudio; Cappadona, Claudio; Azuure, Clinton; Bianco, Cristiana; Cea, Cristina; Sancho, Cristina; Hoff, Dag Arne Lihaug; Galimberti, Daniela; Prati, Daniele; Haschka, David; Jiménez, David; Pestaña, David; Toapanta, David; Muñiz-Diaz, Eduardo; Azzolini, Elena; Sandoval, Elena; Binatti, Eleonora; Scarpini, Elio; Helbig, Elisa T; Casalone, Elisabetta; Urrechaga, Eloisa; Paraboschi, Elvezia Maria; Pontali, Emanuele; Reverter, Enric; Calderón, Enrique J; Navas, Enrique; Solligård, Erik; Contro, Ernesto; Arana-Arri, Eunate; Aziz, Fátima; Garcia, Federico; García Sánchez, Félix; Ceriotti, Ferruccio; Martinelli-Boneschi, Filippo; Peyvandi, Flora; Kurth, Florian; Blasi, Francesco; Malvestiti, Francesco; Medrano, Francisco J; Mesonero, Francisco; Rodriguez-Frias, Francisco; Hanses, Frank; Müller, Fredrik; Hemmrich-Stanisak, Georg; Bellani, Giacomo; Grasselli, Giacomo; Pezzoli, Gianni; Costantino, Giorgio; Albano, Giovanni; Cardamone, Giulia; Bellelli, Giuseppe; Citerio, Giuseppe; Foti, Giuseppe; Lamorte, Giuseppe; Matullo, Giuseppe; Baselli, Guido; Kurihara, Hayato; Neb, Holger; My, Ilaria; Kurth, Ingo; Hernández, Isabel; Pink, Isabell; de Rojas, Itziar; Galván-Femenia, Iván; Holter, Jan Cato; Afset, Jan Egil; Heyckendorf, Jan; Kässens, Jan; Damås, Jan Kristian; Rybniker, Jan; Altmüller, Janine; Ampuero, Javier; Martín, Javier; Erdmann, Jeanette; Banales, Jesus M; Badia, Joan Ramon; Dopazo, Joaquin; Schneider, Jochen; Bergan, Jonas; Barretina, Jordi; Walter, Jörn; Hernández Quero, Jose; Goikoetxea, Josune; Delgado, Juan; Guerrero, Juan M; Fazaal, Julia; Kraft, Julia; Schröder, Julia; Risnes, Kari; Banasik, Karina; Müller, Karl Erik; Gaede, Karoline I; Garcia-Etxebarria, Koldo; Tonby, Kristian; Heggelund, Lars; Izquierdo-Sanchez, Laura; Bettini, Laura Rachele; Sumoy, Lauro; Sander, Leif Erik; Lippert, Lena J; Terranova, Leonardo; Nkambule, Lindokuhle; Knopp, Lisa; Gustad, Lise Tuset; Garbarino, Lucia; Santoro, Luigi; Téllez, Luis; Roade, Luisa; Ostadreza, Mahnoosh; Intxausti, Maider; Kogevinas, Manolis; Riveiro-Barciela, Mar; Berger, Marc M; Schaefer, Marco; Niemi, Mari E K; Gutiérrez-Stampa, María A; Carrabba, Maria; Figuera Basso, Maria E; Valsecchi, Maria Grazia; Hernandez-Tejero, María; Vehreschild, Maria J G T; Manunta, Maria; Acosta-Herrera, Marialbert; D'Angiò, Mariella; Baldini, Marina; Cazzaniga, Marina; Grimsrud, Marit M; Cornberg, Markus; Nöthen, Markus M; Marquié, Marta; Castoldi, Massimo; Cordioli, Mattia; Cecconi, Maurizio; D'Amato, Mauro; Augustin, Max; Tomasi, Melissa; Boada, Mercè; Dreher, Michael; Seilmaier, Michael J; Joannidis, Michael; Wittig, Michael; Mazzocco, Michela; Ciccarelli, Michele; Rodríguez-Gandía, Miguel; Bocciolone, Monica; Miozzo, Monica; Imaz Ayo, Natale; Blay, Natalia; Chueca, Natalia; Montano, Nicola; Braun, Nicole; Ludwig, Nicole; Marx, Nikolaus; Martínez, Nilda; Cornely, Oliver A; Witzke, Oliver; Palmieri, Orazio; Faverio, Paola; Preatoni, Paoletta; Bonfanti, Paolo; Omodei, Paolo; Tentorio, Paolo; Castro, Pedro; Rodrigues, Pedro M; España, Pedro Pablo; Hoffmann, Per; Rosenstiel, Philip; Schommers, Philipp; Suwalski, Phillip; de Pablo, Raúl; Ferrer, Ricard; Bals, Robert; Gualtierotti, Roberta; Gallego-Durán, Rocío; Nieto, Rosa; Carpani, Rossana; Morilla, Rubén; Badalamenti, Salvatore; Haider, Sammra; Ciesek, Sandra; May, Sandra; Bombace, Sara; Marsal, Sara; Pigazzini, Sara; Klein, Sebastian; Pelusi, Serena; Wilfling, Sibylle; Bosari, Silvano; Volland, Sonja; Brunak, Søren; Raychaudhuri, Soumya; Schreiber, Stefan; Heilmann-Heimbach, Stefanie; Aliberti, Stefano; Ripke, Stephan; Dudman, Susanne; Wesse, Tanja; Zheng, Tenghao; Bahmer, Thomas; Eggermann, Thomas; Illig, Thomas; Brenner, Thorsten; Pumarola, Tomas; Feldt, Torsten; Folseraas, Trine; Gonzalez Cejudo, Trinidad; Landmesser, Ulf; Protzer, Ulrike; Hehr, Ute; Rimoldi, Valeria; Monzani, Valter; Skogen, Vegard; Keitel, Verena; Kopfnagel, Verena; Friaza, Vicente; Andrade, Victor; Moreno, Victor; Albrecht, Wolfgang; Peter, Wolfgang; Poller, Wolfgang; Farre, Xavier; Yi, Xiaoli; Wang, Xiaomin; Khodamoradi, Yascha; Karadeniz, Zehra; Latiano, Anna; Goerg, Siegfried; Bacher, Petra; Koehler, Philipp; Tran, Florian; Zoller, Heinz; Schulte, Eva C; Heidecker, Bettina; Ludwig, Kerstin U; Fernández, Javier; Romero-Gómez, Manuel; Albillos, Agustín; Invernizzi, Pietro; Buti, Maria; Duga, Stefano; Bujanda, Luis; Hov, Johannes R; Lenz, Tobias L; Asselta, Rosanna; de Cid, Rafael; Valenti, Luca; Karlsen, Tom H; Cáceres, Mario; Franke, Andre

Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes

对系统性硬化症主要组织相容性复合体的全面分析揭示了不同临床和血清学亚型的HLA关联差异

Acosta-Herrera, Marialbert; Kerick, Martin; Lopéz-Isac, Elena; Assassi, Shervin; Beretta, Lorenzo; Simeón-Aznar, Carmen Pilar; Ortego-Centeno, Norberto; Proudman, Susanna M; Hunzelmann, Nicolas; Moroncini, Gianluca; de Vries-Bouwstra, Jeska K; Orozco, Gisela; Barton, Anne; Herrick, Ariane L; Terao, Chikashi; Allanore, Yannick; Brown, Matthew A; Radstake, Timothy Rdj; Fonseca, Carmen; Denton, Christopher P; Mayes, Maureen D; Martin, Javier