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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
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
Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage McNeilly, Sarah; Thomson, Cameron R.; Gonzalez-Trueba, Laura; Sin, Yuan Yan; Granata, Alessandra; Hamilton, Graham; Lee, Michelle; Boland, Erin; McClure, John D.; Lumbreras-Perales, Cristina; Aman, Alisha; Kumar, Apoorva A.; Cantini, Marco; Gok, Caglar; Graham, Delyth; Tomono, Yasuko; Anderson, Christopher D.; Lu, Yinhui; Smith, Colin; Markus, Hugh S.; Abramowicz, Marc; Vilain, Catheline; Salman, Rustam Al-Shahi; Salmeron-Sanchez, Manuel; Hainsworth, Atticus H.; Fuller, William; Kadler, Karl E.; Bulleid, Neil J.; Van Agtmael, Tom 分享 收藏
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A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases Al-Thani, Maha; Goodwin-Trotman, Mary; Bell, Steven; Patel, Krushangi; Fleming, Lauren K.; Vilain, Catheline; Abramowicz, Marc; Allan, Stuart M.; Wang, Tao; Cader, M. Zameel; Horsburgh, Karen; Van Agtmael, Tom; Sinha, Sanjay; Markus, Hugh S.; Granata, Alessandra 分享 收藏
Vascular Collagen Type-IV in Hypertension and Cerebral Small Vessel Disease Kumar, Apoorva A.; Yeo, Natalie; Whittaker, Max; Attra, Priya; Barrick, Thomas R.; Bridges, Leslie R.; Dickson, Dennis W.; Esiri, Margaret M.; Farris, Chad W.; Graham, Delyth; Lin, Wen Lang; Meijles, Daniel N.; Pereira, Anthony C.; Perry, Gregory; Rosene, Douglas L.; Shtaya, Anan B.; Van Agtmael, Tom; Zamboni, Giovanna; Hainsworth, Atticus H. 分享 收藏
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Rare Missense Functional Variants at COL4A1 and COL4A2 in Sporadic Intracerebral Hemorrhage Chung, Jaeyoon; Hamilton, Graham; Kim, Minsup; Marini, Sandro; Montgomery, Bailey; Henry, Jonathan; Cho, Art E.; Brown, Devin L.; Worrall, Bradford B.; Meschia, James F.; Silliman, Scott L.; Selim, Magdy; Tirschwell, David L.; Kidwell, Chelsea S.; Kissela, Brett; Greenberg, Steven M.; Viswanathan, Anand; Goldstein, Joshua N.; Langefeld, Carl D.; Rannikmae, Kristiina; Sudlow, Catherine Lm; Samarasekera, Neshika; Rodrigues, Mark; Salman, Rustam Al-Shahi; Prendergast, James G. D.; Harris, Sarah E.; Deary, Ian; Woo, Daniel; Rosand, Jonathan; Van Agtmael, Tom; Anderson, Christopher D. 分享 收藏
Identification of an Altered Matrix Signature in Kidney Aging and Disease Randles, Michael J.; Lausecker, Franziska; Kong, Qingyang; Suleiman, Hani; Reid, Graeme; Kolatsi-Joannou, Maria; Davenport, Bernard; Tian, Pinyuan; Falcone, Sara; Potter, Paul; Van Agtmael, Tom; Norman, Jill T.; Long, David A.; Humphries, Martin J.; Miner, Jeffrey H.; Lennon, Rachel 分享 收藏
Global proteomic analysis of extracellular matrix in mouse and human brain highlights relevance to cerebrovascular disease Pokhilko, Alexandra; Brezzo, Gaia; Handunnetthi, Lahiru; Heilig, Raphael; Lennon, Rachel; Smith, Colin; Allan, Stuart M.; Granata, Alessandra; Sinha, Sanjay; Wang, Tao; Markus, Hugh S.; Naba, Alexandra; Fischer, Roman; Van Agtmael, Tom; Horsburgh, Karen; Cader, M. Zameel 分享 收藏
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Basement membrane stiffness determines metastases formation Reuten, Raphael; Zendehroud, Sina; Nicolau, Monica; Fleischhauer, Lutz; Laitala, Anu; Kiderlen, Stefanie; Nikodemus, Denise; Wullkopf, Lena; Nielsen, Sebastian Rune; McNeilly, Sarah; Prein, Carina; Rafaeva, Maria; Schoof, Erwin M.; Furtwangler, Benjamin; Porse, Bo T.; Kim, Hyobin; Won, Kyoung Jae; Sudhop, Stefanie; Zornhagen, Kamilla Westarp; Suhr, Frank; Maniati, Eleni; Pearce, Oliver M. T.; Koch, Manuel; Oddershede, Lene Broeng; Van Agtmael, Tom; Madsen, Chris D.; Mayorca-Guiliani, Alejandro E.; Bloch, Wilhelm; Netz, Roland R.; Clausen-Schaumann, Hauke; Erler, Janine T. 分享 收藏
Material-driven fibronectin assembly rescues matrix defects due to mutations in collagen IV in fibroblasts Mpoyi, Elie Ngandu; Cantini, Marco; Sin, Yuan Yan; Fleming, Lauren; Zhou, Dennis W.; Costell, Mercedes; Lu, Yinhui; Kadler, Karl; Garcia, Andres J.; Van Agtmael, Tom; Salmeron-Sanchez, Manuel 分享 收藏
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Identification and characterization of a novel member of the EXT gene family, EXTL2 Wuyts, W; Van Hul, W; Hendrickx, J; Speleman, F; Wauters, J; De Boulle, K; Van Roy, N; Van Agtmael, T; Bossuyt, P; Willems, PJ 分享 收藏
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