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

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.

SEC24D 中罕见的 5'UTR 变异揭示了成骨不全症中的翻译功能障碍:RNA 治疗拯救的路线图。

Essawi Osama, Jarayseh Tamara, Tapaneeyaphan Piyanoot, Bouckaert Manon, Naessens Sarah, Malfait Fransiska, Coppieters Frauke, Coucke Paul J

Correction: The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome

更正:化学伴侣4-苯基丁酸可挽救COL3A1基因突变导致的血管型埃勒斯-当洛斯综合征的分子细胞缺陷。

Omar, Ramla; Lee, Michelle Aw; Gonzalez-Trueba, Laura; Thomson, Cameron R; Hansen, Uwe; Lianos, Spyridonas; Hazarika, Snoopy; El Abdallah, Omar Hmeh; Ammar, Malak A; Cassels, Jennifer; Michie, Alison M; Bulleid, Neil J; Malfait, Fransiska; Van Agtmael, Tom

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome.

化学伴侣 4-苯基丁酸可挽救导致血管型埃勒斯-当洛斯综合征的 COL3A1 突变的分子细胞缺陷

Omar Ramla, Lee Michelle Aw, Gonzalez-Trueba Laura, Thomson Cameron R, Hansen Uwe, Lianos Spyridonas, Hazarika Snoopy, El Abdallah Omar Hmeh, Ammar Malak A, Cassels Jennifer, Michie Alison M, Bulleid Neil J, Malfait Fransiska, Van Agtmael Tom

B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.

B3GALT6 基因突变导致埃勒斯-当洛斯综合征患者的结缔组织生物力学受损

Diana Roméo Milan, Jolivet Benjamin, Vincourt Jean-Baptiste, Hergalant Sébastien, Francius Grégory, Karami Yasaman, Khakzad Hamed, Wild Rebekka, Bourgeais Marie, Robert Anne, Wurtz Alison, Barreto Guillermo, Ramalanjaona Nick, Helle Déborah, Onifarasoaniaina Rachel, Front Sophie, Lopin-Bon Chrystel, Syx Delfien, Malfait Fransiska, Fournel-Gigleux Sylvie, Gulberti Sandrine, Bui Catherine

ADAMTS2: More than a procollagen N-proteinase

ADAMTS2:不仅仅是一种前胶原 N-蛋白酶

Vanlerberghe, Ruben; Colige, Alain; Malfait, Anne-Marie; Syx, Delfien; Malfait, Fransiska

Analysis of matrisome expression patterns in murine and human dorsal root ganglia

小鼠和人类背根神经节基质体表达模式分析

Robin Vroman, Rahel S Hunter, Matthew J Wood, Olivia C Davis, Zoë Malfait, Dale S George, Dongjun Ren, Diana Tavares-Ferreira, Theodore J Price, Richard J Miller, Anne-Marie Malfait, Fransiska Malfait, Rachel E Miller, Delfien Syx

Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation

经典型埃勒斯-当洛斯综合征的感觉特征分析:一项病例对照研究揭示了疼痛特征、躯体感觉改变和疼痛调节障碍。

Colman, Marlies; Syx, Delfien; de Wandele, Inge; Rombaut, Lies; Wilie, Deborah; Malfait, Zoë; Meeus, Mira; Malfait, Anne-Marie; Van Oosterwijck, Jessica; Malfait, Fransiska

Publisher Correction: The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET

出版商更正:COVID-19 对罕见和复杂结缔组织疾病的影响:ERN ReCONNET 的经验

Talarico, Rosaria; Aguilera, Silvia; Alexander, Tobias; Amoura, Zahir; Antunes, Ana M; Arnaud, Laurent; Avcin, Tadej; Beretta, Lorenzo; Bombardieri, Stefano; Burmester, Gerd R; Cannizzo, Sara; Cavagna, Lorenzo; Chaigne, Benjamin; Cornet, Alain; Costedoat-Chalumeau, Nathalie; Doria, Andrea; Ferraris, Alessandro; Fischer-Betz, Rebecca; Fonseca, João E; Frank, Charissa; Gaglioti, Andrea; Galetti, Ilaria; Grunert, Jürgen; Guimarães, Vera; Hachulla, Eric; Houssiau, Frederic; Iaccarino, Luca; Krieg, Thomas; Limper, Marteen; Malfait, Fransiska; Mariette, Xavier; Marinello, Diana; Martin, Thierry; Matthews, Lisa; Matucci-Cerinic, Marco; Meyer, Alain; Montecucco, Carlomaurizio; Mouthon, Luc; Müller-Ladner, Ulf; Rednic, Simona; Romão, Vasco C; Schneider, Matthias; Smith, Vanessa; Sulli, Alberto; Tamirou, Farah; Taruscio, Domenica; Taulaigo, Anna V; Terol, Enrique; Tincani, Angela; Ticciati, Simone; Turchetti, Giuseppe; van Hagen, P Martin; van Laar, Jacob M; Vieira, Ana; de Vries-Bouwstra, Jeska K; Cutolo, Maurizio; Mosca, Marta

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

66例由CHST14致病变异引起的肌肉挛缩型埃勒斯-当洛斯综合征(mcEDS-CHST14)患者的临床和分子特征

Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri, Alessandra; Ishikawa, Ken; Kobayashi, Tomoko; Aoki, Yoko; Ohura, Toshihiro; Kawame, Hiroshi; Kono, Michihiro; Mochida, Kosuke; Tokorodani, Chiho; Kikkawa, Kiyoshi; Morisaki, Takayuki; Kobayashi, Tetsuyuki; Nakane, Takaya; Kubo, Akiharu; Ranells, Judith D; Migita, Ohsuke; Sobey, Glenda; Kaur, Anupriya; Ishikawa, Masumi; Yamaguchi, Tomomi; Matsumoto, Naomichi; Malfait, Fransiska; Miyake, Noriko; Kosho, Tomoki

Editorial: Molecular Mechanisms of Heritable Connective Tissue Disorders

社论:遗传性结缔组织疾病的分子机制

Malfait, Fransiska; Forlino, Antonella; Sengle, Gerhard; Van Agtmael, Tom