未登录 The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome (vol 11, 200, 2025) 化学伴侣4-苯基丁酸可修复导致血管性埃勒斯-当洛斯综合征（Ehlers-Danlos Syndrome）的COL3A1基因突变所引起的分子细胞缺陷（vol 11, 200, 2025） Omar, Ramla; Lee, Michelle A. W.; Gonzalez-Trueba, Laura; Thomson, Cameron R.; Hansen, Uwe; Lianos, Spyridonas; Hazarika, Snoopy; El Abdallah, Omar H. M. E. H.; Ammar, Malak A.; Cassels, Jennifer; Michie, Alison M.; Bulleid, Neil J.; Malfait, Fransiska; Van Agtmael, Tom 分享 收藏
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The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome 化学伴侣4-苯基丁酸可以拯救导致血管型埃勒斯-当洛斯综合征的COL3A1突变所引起的分子细胞缺陷 Omar, Ramla; Lee, Michelle A. W.; Gonzalez-Trueba, Laura; Thomson, Cameron R.; Hansen, Uwe; Lianos, Spyridonas; Hazarika, Snoopy; El Abdallah, Omar El; Ammar, Malak A.; Cassels, Jennifer; Michie, Alison M.; Bulleid, Neil J.; Malfait, Fransiska; Van Agtmael, Tom 分享 收藏
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Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development Guillemyn, Brecht; De Saffel, Hanna; Bek, Jan Willem; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Jarayseh, Tamara; Debaenst, Sophie; Willaert, Andy; De Rycke, Riet; Byers, Peter H.; Rosseel, Toon; Coucke, Paul; Blaumeiser, Bettina; Syx, Delfien; Malfait, Fransiska; Symoens, Sofie 分享 收藏
Sensory Profiling in Classical Ehlers-Danlos Syndrome: A Case-Control Study Revealing Pain Characteristics, Somatosensory Changes, and Impaired Pain Modulation Colman, Marlies; Syx, Delfien; De Wandele, Inge; Rombaut, Lies; Wille, Deborah; Malfait, Zoe; Meeus, Mira; Malfait, Anne-Marie; Van Oosterwijck, Jessica; Malfait, Fransiska 分享 收藏
NRF2 Shortage in Human Skin Fibroblasts Dysregulates Matrisome Gene Expression and Affects Collagen Fibrillogenesis Salamito, Melanie; Gillet, Benjamin; Syx, Delfien; Vaganay, Elisabeth; Malbouyres, Marilyne; Cerutti, Catherine; Tissot, Nicolas; Exbrayat-Heritier, Chloe; Perez, Philippe; Jones, Christophe; Hughes, Sandrine; Malfait, Fransiska; Haydont, Valerie; Jager, Sibylle; Ruggiero, Florence 分享 收藏
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract Jarayseh, Tamara; Guillemyn, Brecht; De Saffel, Hanna; Bek, Jan Willem; Syx, Delfien; Symoens, Sofie; Gansemans, Yannick; Nieuwerburgh, Filip; Jagadeesh, Sujatha; Raja, Jayarekha; Malfait, Fransiska; Coucke, Paul J.; De Clercq, Adelbert; Willaert, Andy 分享 收藏
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Bone Mass, Density, Geometry, and Stress-Strain Index in Adults With Osteogenesis Imperfecta Type I and Their Associations With Physical Activity and Muscle Function Parameters Coussens, Marie; Lapauw, Bruno; Verroken, Charlotte; Goemaere, Stefan; De Wandele, Inge; Malfait, Fransiska; Banica, Thiberiu; Calders, Patrick 分享 收藏
The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET (vol 17, pg 177, 2021) 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, Joao E.; Frank, Charissa; Gaglioti, Andrea; Galetti, Ilaria; Grunert, Jurgen; Guimaraes, 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; Mueller-Ladner, Ulf; Rednic, Simona; Romao, 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 分享 收藏
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms Colman, Marlies; Vroman, Robin; Dhooge, Tibbe; Malfait, Zoe; Symoens, Sofie; Burnyte, Birute; Nampoothiri, Sheela; Kariminejad, Ariana; Malfait, Fransiska; Syx, Delfien 分享 收藏
Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome: A case-control study De Wandele, Inge; Colman, Marlies; Hermans, Linda; Van Oosterwijck, Jessica; Meeus, Mira; Rombaut, Lies; Brusselmans, Griet; Syx, Delfien; Calders, Patrick; Malfait, Fransiska 分享 收藏
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Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) 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 分享 收藏
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta Tran, Thao T.; Keller, Rachel B.; Guillemyn, Brecht; Pepin, Melanie; Corteville, Jane E.; Khatib, Samir; Fallah, Mohammad-Sadegh; Zeinali, Sirous; Malfait, Fransiska; Symoens, Sofie; Coucke, Paul; Witters, Peter; Levtchenko, Elena; Bagherian, Hamideh; Nickerson, Deborah A.; Bamshad, Michael J.; Chong, Jessica X.; Byers, Peter H. 分享 收藏
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