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

DNA methylation predicts lung function and pulmonary exacerbation in sputum samples from patients with cystic fibrosis

DNA甲基化可预测囊性纤维化患者痰液样本中的肺功能和肺部急性加重情况

Tost, Jorg; Caimmi, Davide; Pastore, Manuela; Reynes, Christelle; Busato, Florence; Pineau, Fanny; Claustres, Mireille; Vachier, Isabelle; Chiron, Raphaël; De Sario, Albertina

Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa

瓜氨酸化组蛋白H3是中性粒细胞胞外陷阱的标志物,与隐性营养不良型大疱性表皮松解症患者发生的皮肤鳞状细胞癌预后不良相关。

Ragot, Hélène; Gaucher, Sonia; Bonnet des Claustres, Mathilde; Basset, Justine; Boudan, Rose; Battistella, Maxime; Bourrat, Emmanuelle; Hovnanian, Alain; Titeux, Matthias

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

患有先天性T细胞CD28缺陷的人类易感染皮肤乳头瘤病毒,但其他方面都很健康。

Vivien Béziat,Franck Rapaport,Jiafen Hu,Matthias Titeux,Mathilde Bonnet des Claustres,Mathieu Bourgey,Heather Griffin,Élise Bandet,Cindy S Ma,Roya Sherkat,Hassan Rokni-Zadeh,David M Louis,Majid Changi-Ashtiani,Ottavia M Delmonte,Toshiaki Fukushima,Tanwir Habib,Andrea Guennoun,Taushif Khan,Noemi Bender,Mahbuba Rahman,Frédégonde About,Rui Yang,Geetha Rao,Claire Rouzaud,Jingwei Li,Debra Shearer,Karla Balogh,Fatima Al Ali,Manar Ata,Soroosh Dabiri,Mana Momenilandi,Justine Nammour,Marie-Alexandra Alyanakian,Marianne Leruez-Ville,David Guenat,Marie Materna,Léa Marcot,Natasha Vladikine,Christine Soret,Hassan Vahidnezhad,Leila Youssefian,Amir Hossein Saeidian,Jouni Uitto,Émilie Catherinot,Shadi Sadat Navabi,Mohammed Zarhrate,David T Woodley,Mohamed Jeljeli,Thomas Abraham,Serkan Belkaya,Lazaro Lorenzo,Jérémie Rosain,Mousa Bayat,Fanny Lanternier,Olivier Lortholary,Faramarz Zakavi,Philippe Gros,Gérard Orth,Laurent Abel,Jean-Luc Prétet,Sylvie Fraitag,Emmanuelle Jouanguy,Mark M Davis,Stuart G Tangye,Luigi D Notarangelo,Nico Marr,Tim Waterboer,David Langlais,John Doorbar,Alain Hovnanian,Neil Christensen,Xavier Bossuyt,Mohammad Shahrooei,Jean-Laurent Casanova

DNA Methylation at ATP11A cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal Study

ATP11A cg11702988 的 DNA 甲基化是囊性纤维化肺病严重程度的生物标志物:一项纵向研究

Fanny Pineau, Davide Caimmi, Sylvie Taviaux, Maurane Reveil, Laura Brosseau, Isabelle Rivals, Margot Drevait, Isabelle Vachier, Mireille Claustres, Raphaël Chiron, Albertina De Sario

Secukinumab Therapy for Netherton Syndrome

苏金单抗治疗 Netherton 综合征

Isabelle Luchsinger, Nicole Knöpfel, Martin Theiler, Mathilde Bonnet des Claustres, Claire Barbieux, Agnes Schwieger-Briel, Corinne Brunner, Davide Donghi, Michael Buettcher, Barbara Meier-Schiesser, Alain Hovnanian, Lisa Weibel

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

TCTEX1D1是杜氏肌营养不良症疾病进展的遗传修饰因子

Spitali, Pietro; Zaharieva, Irina; Bohringer, Stefan; Hiller, Monika; Chaouch, Amina; Roos, Andreas; Scotton, Chiara; Claustres, Mireille; Bello, Luca; McDonald, Craig M; Hoffman, Eric P; Koeks, Zaida; Eka Suchiman, H; Cirak, Sebahattin; Scoto, Mariacristina; Reza, Mojgan; 't Hoen, Peter A C; Niks, Erik H; Tuffery-Giraud, Sylvie; Lochmüller, Hanns; Ferlini, Alessandra; Muntoni, Francesco; Aartsma-Rus, Annemieke

First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene

首次鉴定出调控肌营养不良蛋白基因中可变外显子的RNA结合蛋白

Julie Miro ,Anne-Laure Bougé ,Eva Murauer ,Emmanuelle Beyne ,Dylan Da Cunha ,Mireille Claustres ,Michel Koenig ,Sylvie Tuffery-Giraud

DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis

囊性纤维化中肺病严重程度修饰基因的 DNA 甲基化发生改变

Milena Magalhães, Isabelle Rivals, Mireille Claustres, Jessica Varilh, Mélodie Thomasset, Anne Bergougnoux, Laurent Mely, Sylvie Leroy, Harriet Corvol, Loïc Guillot, Marlène Murris, Emmanuelle Beyne, Davide Caimmi, Isabelle Vachier, Raphaël Chiron, Albertina De Sario

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

NF-κB 和 TGFβ 通路外显子变异关联研究发现 CD40 是杜氏肌营养不良症的修饰因子

Bello, Luca; Flanigan, Kevin M; Weiss, Robert B; Spitali, Pietro; Aartsma-Rus, Annemieke; Muntoni, Francesco; Zaharieva, Irina; Ferlini, Alessandra; Mercuri, Eugenio; Tuffery-Giraud, Sylvie; Claustres, Mireille; Straub, Volker; Lochmüller, Hanns; Barp, Andrea; Vianello, Sara; Pegoraro, Elena; Punetha, Jaya; Gordish-Dressman, Heather; Giri, Mamta; McDonald, Craig M; Hoffman, Eric P

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus

完善囊性纤维化植入前遗传学诊断最佳实践指南:迈向国际共识

Girardet, Anne; Viart, Victoria; Plaza, Stéphanie; Daina, Gemma; De Rycke, Martine; Des Georges, Marie; Fiorentino, Francesco; Harton, Gary; Ishmukhametova, Aliya; Navarro, Joaquima; Raynal, Caroline; Renwick, Pamela; Saguet, Florielle; Schwarz, Martin; SenGupta, Sioban; Tzetis, Maria; Roux, Anne-Françoise; Claustres, Mireille