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

Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.

COL7A1 启动子中 Sp1 转录因子结合受损的新变异会导致轻度隐性营养不良性大疱性表皮松解症

Pironon Nathalie, Gasparyan Artyom, Yubero María Joao, Duchatelet Sabine, Hovhannesyan Kristina, Leclerc-Mercier Stephanie, Kostandyan Natella, Palisson Francis, Sarkisian Tamara, Titeux Matthias, Fuentes Ignacia, Hovnanian Alain

Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation

携带独特的 c.6527insC 突变的个体患有罕见的皮肤病——隐性营养不良性大疱性表皮松解症,研究发现其起源于塞法迪犹太人。

Warshauer, Emily Mira; Maier, Paul A; Runfeldt, Goran; Fuentes, Ignacia; Escamez, Maria José; Valinotto, Laura; Natale, Monica; Manzur, Graciela; Illera, Nuria; Garcia, Marta; Del Rio, Marcela; Mencia, Angeles; Holguin, Almudena; Larcher, Fernando; Hellenthal, Garrett; Brown, Adam R; Consuegra, Liliana; Rivera, Carolina; Nogueiro, Inês; Tang, Jean; Oro, Anthony; Marinkovich, Peter; Palisson, Francis; Titeux, Matthias; Hovnanian, Alain A; Sprecher, Eli; Skorecki, Karl; Norris, David; Bruckner, Anna; Kogut, Igor; Bilousova, Ganna; Roop, Dennis

Emotional speech markers of psychiatric disturbance in Huntington's disease

亨廷顿病精神障碍的情感性言语标志

Chenain, Lucie; Fabre, Audrey; Titeux, Hadrien; Morgado, Graça; Youssov, Katia; Clavel, Chloé; Bachoud-Lévi, Anne-Catherine

Cathelicidin antimicrobial peptide expression in neutrophils and neurons antagonistically modulates neuroinflammation

中性粒细胞和神经元中抗菌肽Cathelicidin的表达拮抗性地调节神经炎症

Subash Chand Verma ,Emmanuelle Enée ,Kanchanadevi Manasse ,Feriel Rebhi ,Axelle Penc ,David Romeo-Guitart ,Cuc Bui Thi ,Matthias Titeux ,Franck Oury ,Simon Fillatreau ,Roland Liblau ,Julien Diana

Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa.

针对 COL7A1 基因深内含子变异导致的隐性营养不良性大疱性表皮松解症,应用剪接调控策略

Pironon Nathalie, Bourrat Emmanuelle, Prost Catherine, Chen Mei, Woodley David T, Titeux Matthias, Hovnanian Alain

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

Climatic water availability modifies tree functional diversity effects on soil organic carbon storage in European forests

气候水分有效性会改变树木功能多样性对欧洲森林土壤有机碳储存的影响。

Osei, Richard; Titeux, Hugues; Del Río, Miren; Ruiz-Peinado, Ricardo; Bielak, Kamil; Bravo, Felipe; Collet, Catherine; Cools, Corentin; Cornelis, Jean-Thomas; Drössler, Lars; Heym, Michael; Korboulewsky, Nathalie; Löf, Magnus; Muys, Bart; Najib, Yasmina; Nothdurft, Arne; Pach, Maciej; Pretzsch, Hans; Ponette, Quentin

The direct drivers of recent global anthropogenic biodiversity loss

近期全球人为生物多样性丧失的直接驱动因素

Jaureguiberry, Pedro; Titeux, Nicolas; Wiemers, Martin; Bowler, Diana E; Coscieme, Luca; Golden, Abigail S; Guerra, Carlos A; Jacob, Ute; Takahashi, Yasuo; Settele, Josef; Díaz, Sandra; Molnár, Zsolt; Purvis, Andy

Predicting clinical scores in Huntington's disease: a lightweight speech test

预测亨廷顿病临床评分:一种简易的言语测试

Riad, Rachid; Lunven, Marine; Titeux, Hadrien; Cao, Xuan-Nga; Hamet Bagnou, Jennifer; Lemoine, Laurie; Montillot, Justine; Sliwinski, Agnes; Youssov, Katia; Cleret de Langavant, Laurent; Dupoux, Emmanuel; Bachoud-Lévi, Anne-Catherine

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