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Items: 1 to 20 of 85

1.
Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers–Danlos Syndrome with Mutations in COL3A1 Exon 10 or 15?
Sasiwimon Utama, Jessica M. Cale, Chalermchai Mitrpant, Sue Fletcher, Steve D. Wilton, May T. Aung-Htut
Int J Mol Sci. 2024 Aug; 25(16): 8816. Published online 2024 Aug 13. doi: 10.3390/ijms25168816
PMCID:
PMC11354334
AbstractArticlePDF–6.1M
2.
Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene
Amit Manhas, Dipti Tripathi, Chikage Noishiki, David Wu, Lu Liu, Karim Sallam, Jason T. Lee, Eri Fukaya, Nazish Sayed
Stem Cell Res. Author manuscript; available in PMC 2024 Sep 1.
Published in final edited form as: Stem Cell Res. 2024 Sep; 79: 103485. Published online 2024 Jun 25. doi: 10.1016/j.scr.2024.103485
PMCID:
PMC11315230
AbstractArticlePDF–978K
3.
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
Serwet Demirdas, Lisa M. van den Bersselaar, Rosan Lechner, Jessica Bos, Suzanne I.M. Alsters, Marieke J.H. Baars, Annette F. Baas, Özlem Baysal, Saskia N. van der Crabben, Eelco Dulfer, Noor A.A. Giesbertz, Apollonia T.J.M. Helderman-van den Enden, Yvonne Hilhorst-Hofstee, Marlies J.E. Kempers, Fenne L. Komdeur, Bart Loeys, Daniëlle Majoor-Krakauer, Charlotte W. Ockeloen, Eline Overwater, Peter J. van Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T. Brüggenwirth, Ingrid M.B.H. van de Laar, Arjan C. Houweling
Circ Genom Precis Med. 2024 Jun; 17(3): e003978. Published online 2024 Apr 16. doi: 10.1161/CIRCGEN.122.003978
PMCID:
PMC11188628
AbstractArticlePDF–794K
4.
Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases
Zong Yi Ha, Chieko Chijiwa, Suzanne Lewis
Genes (Basel) 2024 Apr; 15(4): 461. Published online 2024 Apr 6. doi: 10.3390/genes15040461
PMCID:
PMC11049394
AbstractArticlePDF–732K
5.
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts
Reece Foehr, Keith Anderson, Owen Dombrowski, Anna Foehr, Erik D. Foehr
Orphanet J Rare Dis. 2024; 19: 9. Published online 2024 Jan 5. doi: 10.1186/s13023-023-03007-7
PMCID:
PMC10768281
AbstractArticlePDF–1.2M
6.
Case report of a young male, with recurrent pneumothorax, hemoptysis and intrapulmonary cavitary lesions
Sun Junping, Sun Tianyu, Wang Rentao, Li Shengshu, Han Xiaobo, Zhang Xinxin, Zhang Mingyue
Medicine (Baltimore) 2023 Oct 6; 102(40): e35436. Published online 2023 Oct 6. doi: 10.1097/MD.0000000000035436
PMCID:
PMC10552949
AbstractArticlePDF–543K
7.
Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome
Won Young Heo, Shin Yi Jang, Taek Kyu Park, Chang‐Seok Ki, Jong‐Won Kim, Duk‐Kyung Kim, Ja‐Hyun Jang
Mol Genet Genomic Med. 2023 Sep; 11(9): e2240. Published online 2023 Jul 17. doi: 10.1002/mgg3.2240
PMCID:
PMC10496071
AbstractArticlePDF–5.1M
8.
Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys–Dietz, and Vascular Ehlers–Danlos Syndrome
Laura Asta, Gianluca A. D’Angelo, Daniele Marinelli, Umberto Benedetto
Int J Environ Res Public Health. 2023 Aug; 20(16): 6615. Published online 2023 Aug 20. doi: 10.3390/ijerph20166615
PMCID:
PMC10454608
AbstractArticlePDF–5.6M
9.
Patient-derived extracellular matrix demonstrates role of COL3A1 in blood vessel mechanics
Elizabeth L. Doherty, Wen Yih Aw, Emily C. Warren, Max Hockenberry, Chloe P. Whitworth, Grace Krohn, Stefanie Howell, Brian O. Diekman, Wesley R. Legant, Hadi Tavakoli Nia, Anthony J. Hickey, William J. Polacheck
Acta Biomater. Author manuscript; available in PMC 2024 Aug 1.
Published in final edited form as: Acta Biomater. 2023 Aug; 166: 346–359. Published online 2023 May 13. doi: 10.1016/j.actbio.2023.05.015
PMCID:
PMC10330735
AbstractArticlePDF–1.3M
10.
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
Jessica M. Bowen, Monica Hernandez, Diana S. Johnson, Claire Green, Tammy Kammin, Duncan Baker, Sylvia Keigwin, Seiko Makino, Naomi Taylor, Oliver Watson, Nigel M. Wheeldon, Glenda J. Sobey
Eur J Hum Genet. 2023 Jul; 31(7): 749–760. Published online 2023 Mar 29. doi: 10.1038/s41431-023-01343-7
PMCID:
PMC10326011
AbstractArticlePDF–2.2M
11.
Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho
Am J Med Genet A. 2023 Jan; 191(1): 37–51. Published online 2022 Oct 3. doi: 10.1002/ajmg.a.62982
PMCID:
PMC10092364
AbstractArticlePDF–6.7M
12.
Clinical and molecular features of patients with COL1‐related disorders: Implications for the wider spectrum and the risk of vascular complications
Ryojun Takeda, Tomomi Yamaguchi, Shujiro Hayashi, Shinichirou Sano, Hiroshi Kawame, Sachiko Kanki, Takeshi Taketani, Hidekane Yoshimura, Yukio Nakamura, Tomoki Kosho
Am J Med Genet A. 2022 Sep; 188(9): 2560–2575. Published online 2022 Jul 13. doi: 10.1002/ajmg.a.62887
PMCID:
PMC9545637
AbstractArticlePDF–3.4M
13.
Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene
Sanda Huljev Frković, Ana Marija Slišković, Mia Toivonen, Andrea Crkvenac Gregorek, Ana Šutalo, Majda Vrkić Kirhmajer
Croat Med J. 2022 Aug; 63(4): 394–398. doi: 10.3325/cmj.2022.63.394
PMCID:
PMC9468738
AbstractArticlePDF–891K
14.
Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome
Anne Legrand, Charline Guery, Julie Faugeroux, Erika Fontaine, Carole Beugnon, Amélie Gianfermi, Irmine Loisel-Ferreira, Marie-Christine Verpont, Salma Adham, Tristan Mirault, Juliette Hadchouel, Xavier Jeunemaitre
PLoS Genet. 2022 Mar; 18(3): e1010059. Published online 2022 Mar 4. doi: 10.1371/journal.pgen.1010059
PMCID:
PMC8926273
AbstractArticlePDF–3.4M
15.
A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement
Federica Ruscitti, Lucia Trevisan, Giulia Rosti, Fabio Gotta, Annalia Cianflone, Alessandro Geroldi, Paola Origone, Anna Pichiecchio, Simona Viglio, Maria Iascone, Paola Mandich
Mol Genet Genomic Med. 2021 Sep; 9(9): e1753. Published online 2021 Jul 28. doi: 10.1002/mgg3.1753
PMCID:
PMC8457703
AbstractArticlePDF–1.0M
16.
Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage
Inês Pimenta, Rita Varudo, Filipa Castelao, Filipe André Gonzalez
BMJ Case Rep. 2021; 14(7): e243132. Published online 2021 Jul 5. doi: 10.1136/bcr-2021-243132
PMCID:
PMC8258562
AbstractArticlePDF–701K
17.
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed Vascular Ehlers Danlos Syndrome
Sherene Shalhub, Peter H. Byers, Kelli L. Hicks, Kristofer Charlton-Ouw, Devin Zarkowsky, Dawn M. Coleman, Frank M. Davis, Ellen S. Regalado, Giovanni De Caridi, K. Nicole Weaver, Erin M. Miller, Marc L. Schermerhorn, Katie Shean, Gustavo Oderich, Mauricio Ribeiro, Cole Nishikawa, Christian-Alexander Behrendt, E. Sebastian Debus, Yskert von Kodolitsch, Richard J Powell, Melanie Pepin, Dianna M. Milewicz, Peter F. Lawrence, Karen Woo
J Vasc Surg. Author manuscript; available in PMC 2021 Jun 29.
Published in final edited form as: J Vasc Surg. 2019 Nov; 70(5): 1543–1554. Published online 2019 May 21. doi: 10.1016/j.jvs.2019.01.069
PMCID:
PMC8240141
AbstractArticlePDF–2.2M
18.
Outcomes of vitrectomy for retinal detachment in a patient with Ehlers–Danlos syndrome type IV: a case report
Xhevat Lumi, Gaber Bergant, Anila Lumi, Mina Mahnic
J Med Case Rep. 2021; 15: 249. Published online 2021 May 20. doi: 10.1186/s13256-021-02855-w
PMCID:
PMC8135155
AbstractArticlePDF–1.2M
19.
A novel recurrent COL5A1 genetic variant is associated with a dysplasia-associated arterial disease exhibiting dissections and fibromuscular dysplasia
Julie Richer, Hannah L. Hill, Yu Wang, Min-Lee Yang, Kristina L. Hunker, Jamie Lane, Susan Blackburn, Dawn M. Coleman, Jonathan Eliason, Guillaume Sillon, Maria-Daniela D’Agostino, Prasad Jetty, François-Pierre Mongeon, Anne-Marie Laberge, Stephen E. Ryan, Natalia Fendrikova-Mahlay, Thais Coutinho, Michael R. Mathis, Matthew Zawistowski, Stanley L. Hazen, Alex E. Katz, Heather L. Gornik, Chad M. Brummett, Goncalo Abecasis, Ingrid L. Bergin, James C. Stanley, Jun Z. Li, Santhi K. Ganesh
Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2021 Nov 1.
Published in final edited form as: Arterioscler Thromb Vasc Biol. 2020 Nov; 40(11): 2686–2699. Published online 2020 Sep 17. doi: 10.1161/ATVBAHA.119.313885
PMCID:
PMC7953329
AbstractArticlePDF–1.3M
20.
Audit of Gastrointestinal Manifestations in Patients with Loeys–Dietz Syndrome and Vascular Ehlers–Danlos Syndrome
Xiao Jing Wang, Mary Babameto, Dusica Babovic-Vuksanovic, Juan M. Bowen, Michael Camilleri
Dig Dis Sci. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: Dig Dis Sci. 2021 Apr; 66(4): 1142–1152. Published online 2020 Apr 18. doi: 10.1007/s10620-020-06265-8
PMCID:
PMC7572752
AbstractArticlePDF–751K

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