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Items: 1 to 20 of 45

1.
Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature
Fatma Mabrouk Ali, Jieyu Zhou, Mingyan Wang, Qiuxia Wang, Lulu Sun, Mansour Maulid Mshenga, Hongyan Lu
BMC Pediatr. 2024; 24: 242. Published online 2024 Apr 5. doi: 10.1186/s12887-024-04715-0
PMCID:
PMC10996244
AbstractArticlePDF–3.3M
2.
Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing
Syed Ashraf UDDIN, Nicole CESARATO, Aytaj HUMBATOVA, Axel SCHMIDT, Fazal UR REHMAN, Muhammad NAEEM, Sabrina WOLF, Abdul Samad TAREEN, Muhammad Anwar PANEZAI, Holger THIELE, Abdul WALI, Regina FÖLSTER-HOLST, Sulman BASIT, Muhammad AYUB, Regina C. BETZ
Acta Derm Venereol. 2020; 100(16): 5882. Published online 2020 Sep 30. doi: 10.2340/00015555-3634
PMCID:
PMC9235007
AbstractArticlePDF–1.6M
3.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1
Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen
Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119
PMCID:
PMC9231623
AbstractArticlePDF–6.0M
4.
5′RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa
Elisabeth Mayr, Michael Ablinger, Thomas Lettner, Eva M. Murauer, Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Stefan Hainzl, Manfred Kaiser, Alfred Klausegger, Johann W. Bauer, Ulrich Koller, Verena Wally
Int J Mol Sci. 2022 Feb; 23(3): 1732. Published online 2022 Feb 2. doi: 10.3390/ijms23031732
PMCID:
PMC8835740
AbstractArticlePDF–1.4M
5.
Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Testing Mutation Consequences in Dystrophic Epidermolysis Bullosa
Eijiro Akasaka, Hajime Nakano, Daisuke Sawamura
Int J Mol Sci. 2021 Dec; 22(24): 13369. Published online 2021 Dec 13. doi: 10.3390/ijms222413369
PMCID:
PMC8709150
AbstractArticlePDF–1.5M
6.
Ancestral Patterns of Recessive Dystrophic Epidermolysis Bullosa Mutations in Hispanic Populations Suggest Sephardic Ancestry
E Warshauer, A Brown, I Fuentes, J Shortt, C Gignoux, F Montinaro, M Metspalu, L Youssefian, H Vahidnezhad, J Jacków, AM Christiano, J Uitto, ÓR Fajardo-Ramírez, JC Salas-Alanis, JA McGrath, L Consuegra, C Rivera, PA Maier, G Runfeldt, DM Behar, K Skorecki, E Sprecher, F Palisson, DA Norris, AL Bruckner, I Kogut, G Bilousova, DR Roop
Am J Med Genet A. Author manuscript; available in PMC 2022 Nov 1.
Published in final edited form as: Am J Med Genet A. 2021 Nov; 185(11): 3390–3400. Published online 2021 Aug 26. doi: 10.1002/ajmg.a.62456
PMCID:
PMC8668271
AbstractArticlePDF–915K
7.
Prognostic Value of Highly Expressed Type VII Collagen (COL7A1) in Patients With Gastric Cancer
Sung Eun Oh, Mi Yun Oh, Ji Yeong An, Jun Ho Lee, Tae Sung Sohn, Jae Moon Bae, Min-Gew Choi, Kyoung-Mee Kim
Pathol Oncol Res. 2021; 27: 1609860. Published online 2021 Aug 26. doi: 10.3389/pore.2021.1609860
PMCID:
PMC8426344
AbstractArticlePDF–3.2M
8.
Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing
Thi Huyen Thuong Ma, Thi Lan Anh Luong, Thu Lan Hoang, Thi Thanh Hoa Nguyen, Thi Ha Vu, Van Khoa Tran, Duy Bac Nguyen, Tien Sang Trieu, Hai Ha Nguyen, Van Hai Nong, Dang Ton Nguyen
Mol Genet Genomic Med. 2021 Aug; 9(8): e1748. Published online 2021 Jul 19. doi: 10.1002/mgg3.1748
PMCID:
PMC8404230
AbstractArticlePDF–1.6M
9.
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1
Aintzane Urbizu, Melanie E. Garrett, Karen Soldano, Oliver Drechsel, Dorothy Loth, Anna Marcé-Grau, Olga Mestres i Soler, Maria A. Poca, Stephan Ossowski, Alfons Macaya, Francis Loth, Rick Labuda, Allison Ashley-Koch
PLoS One. 2021; 16(5): e0251289. Published online 2021 May 11. doi: 10.1371/journal.pone.0251289
PMCID:
PMC8112708
AbstractArticlePDF–1.2M
10.
Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics
Alexandra Naba, Oliver M. T. Pearce, Amanda Del Rosario, Duanduan Ma, Huiming Ding, Vinothini Rajeeve, Pedro R. Cutillas, Frances R. Balkwill, Richard O. Hynes
J Proteome Res. Author manuscript; available in PMC 2021 Apr 27.
Published in final edited form as: J Proteome Res. 2017 Aug 4; 16(8): 3083–3091. Published online 2017 Jul 19. doi: 10.1021/acs.jproteome.7b00191
PMCID:
PMC8078728
AbstractArticlePDF–2.1M
11.
Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1
Kristin A. Ham, May Thandar Aung-Htut, Sue Fletcher, Steve D. Wilton
Int J Mol Sci. 2020 Oct; 21(20): 7705. Published online 2020 Oct 18. doi: 10.3390/ijms21207705
PMCID:
PMC7590164
AbstractArticlePDF–1.7M
12.
Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing
Jose Bonafont, Ángeles Mencía, Marta García, Raúl Torres, Sandra Rodríguez, Marta Carretero, Esteban Chacón-Solano, Silvia Modamio-Høybjør, Lucía Marinas, Carlos León, María J. Escamez, Ingrid Hausser, Marcela Del Río, Rodolfo Murillas, Fernando Larcher
Mol Ther. 2019 May 8; 27(5): 986–998. Published online 2019 Mar 15. doi: 10.1016/j.ymthe.2019.03.007
PMCID:
PMC6520462
AbstractArticlePDF–3.8M
13.
Identification of novel enriched recurrent chimeric COL7A1-UCN2 in human laryngeal cancer samples using deep sequencing
Ye Tao, Neil Gross, Xiaojiao Fan, Jianming Yang, Maikun Teng, Xu Li, Guojun Li, Yang Zhang, Zhigang Huang
BMC Cancer. 2018; 18: 248. Published online 2018 Mar 2. doi: 10.1186/s12885-018-4161-8
PMCID:
PMC5834868
AbstractArticlePDF–2.5M
14.
Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa
Alexander Nyström, Olivier Bornert, Tobias Kühl, Christine Gretzmeier, Kerstin Thriene, Jörn Dengjel, Andrea Pfister-Wartha, Dimitra Kiritsi, Leena Bruckner-Tuderman
Proc Natl Acad Sci U S A. 2018 Jan 23; 115(4): E705–E714. Published online 2018 Jan 5. doi: 10.1073/pnas.1709111115
PMCID:
PMC5789908
AbstractArticlePDF–2.1M
15.
COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa
Stefan Hainzl, Patricia Peking, Thomas Kocher, Eva M. Murauer, Fernando Larcher, Marcela Del Rio, Blanca Duarte, Markus Steiner, Alfred Klausegger, Johann W. Bauer, Julia Reichelt, Ulrich Koller
Mol Ther. 2017 Nov 1; 25(11): 2573–2584. Published online 2017 Jul 13. doi: 10.1016/j.ymthe.2017.07.005
PMCID:
PMC5675435
AbstractArticlePDF–2.1M
16.
miR-29 Regulates Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa
Michael Vanden Oever, Daniel Muldoon, Wendy Mathews, Ron McElmurry, Jakub Tolar
J Invest Dermatol. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: J Invest Dermatol. 2016 Oct; 136(10): 2013–2021. Published online 2016 Jun 18. doi: 10.1016/j.jid.2016.05.115
PMCID:
PMC5341382
AbstractArticlePDF–1.4M
17.
Distinct isoform-specific complexes of TANGO1 cooperatively facilitate collagen secretion from the endoplasmic reticulum
Miharu Maeda, Kota Saito, Toshiaki Katada
Mol Biol Cell. 2016 Sep 1; 27(17): 2688–2696. doi: 10.1091/mbc.E16-03-0196
PMCID:
PMC5007089
AbstractArticlePDF–3.2M
18.
TANGO1 recruits ERGIC membranes to the endoplasmic reticulum for procollagen export
António JM Santos, Ishier Raote, Margherita Scarpa, Nathalie Brouwers, Vivek Malhotra
eLife. 2015; 4: e10982. Published online 2015 Nov 14. doi: 10.7554/eLife.10982
PMCID:
PMC4709264
AbstractArticlePDF–4.6M
19.
Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver
Alexandra Naba, Karl R Clauser, Charles A Whittaker, Steven A Carr, Kenneth K Tanabe, Richard O Hynes
BMC Cancer. 2014; 14: 518. Published online 2014 Jul 18. doi: 10.1186/1471-2407-14-518
PMCID:
PMC4223627
AbstractArticlePDF–1.5M
20.
Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa
Jakub Tolar, John A. McGrath, Lily Xia, Megan Riddle, Chris J. Lees, Cindy Eide, Douglas R. Keene, Lu Liu, Mark J. Osborn, Troy C. Lund, Bruce R. Blazar, John E. Wagner
J Invest Dermatol. Author manuscript; available in PMC 2014 Nov 1.
Published in final edited form as: J Invest Dermatol. 2014 May; 134(5): 1246–1254. Published online 2013 Dec 6. doi: 10.1038/jid.2013.523
PMCID:
PMC3989384
AbstractArticlePDF–1.3M

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