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Select item 109962441.

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

Abstract Article PDF–3.3M

Select item 92350072.

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

Abstract Article PDF–1.6M

Select item 92316233.

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

Abstract Article PDF–6.0M

Select item 88357404.

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

Abstract Article PDF–1.4M

Select item 87091505.

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

Abstract Article PDF–1.5M

Select item 86682716.

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

Abstract Article PDF–915K

Select item 84263447.

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

Abstract Article PDF–3.2M

Select item 84042308.

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

Abstract Article PDF–1.6M

Select item 81127089.

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

Abstract Article PDF–1.2M

Select item 807872810.

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

Abstract Article PDF–2.1M

Select item 759016411.

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

Abstract Article PDF–1.7M

Select item 652046212.

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

Abstract Article PDF–3.8M

Select item 583486813.

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

Abstract Article PDF–2.5M

Select item 578990814.

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

Abstract Article PDF–2.1M

Select item 567543515.

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

Abstract Article PDF–2.1M

Select item 550243216.

Corticotropin releasing hormone receptor 2 exacerbates chronic cardiac dysfunction

Takuma Tsuda, Mikito Takefuji, Nina Wettschureck, Kazuhiko Kotani, Ryota Morimoto, Takahiro Okumura, Harmandeep Kaur, Shunsuke Eguchi, Teruhiro Sakaguchi, Sohta Ishihama, Ryosuke Kikuchi, Kazumasa Unno, Kunihiro Matsushita, Shizukiyo Ishikawa, Stefan Offermanns, Toyoaki Murohara

J Exp Med. 2017 Jul 3; 214(7): 1877–1888. doi: 10.1084/jem.20161924