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Select item 112398191.

A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa

Gernot Neumayer, Jessica L. Torkelson, Shengdi Li, Kelly McCarthy, Hanson H. Zhen, Madhuri Vangipuram, Marius M. Mader, Gulilat Gebeyehu, Taysir M. Jaouni, Joanna Jacków-Malinowska, Avina Rami, Corey Hansen, Zongyou Guo, Sadhana Gaddam, Keri M. Tate, Alberto Pappalardo, Lingjie Li, Grace M. Chow, Kevin R. Roy, Thuylinh Michelle Nguyen, Koji Tanabe, Patrick S. McGrath, Amber Cramer, Anna Bruckner, Ganna Bilousova, Dennis Roop, Jean Y. Tang, Angela Christiano, Lars M. Steinmetz, Marius Wernig, Anthony E. Oro

Nat Commun. 2024; 15: 5834. Published online 2024 Jul 11. doi: 10.1038/s41467-024-49400-z

PMCID:: PMC11239819

Abstract Article PDF–5.7M

Select item 110813812.

Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype

William Stone, Chloe Strege, William Miller, Aron M. Geurts, Michael Grzybowski, Megan Riddle, Christopher Lees, Cindy Eide, Douglas R. Keene, Sara F. Tufa, Davis Seelig, John McGrath, Jakub Tolar

PLoS One. 2024; 19(5): e0302991. Published online 2024 May 9. doi: 10.1371/journal.pone.0302991

PMCID:: PMC11081381

Abstract Article PDF–3.3M

Select item 109962443.

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 104118254.

Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort

Divya Gupta, Charitha Jayashankar, Manoj Srinivas, Gurudatta Baraka Vishwanathan, Kristipati Raghavendra Reddy, Asha Kubba, Meenakshi Batrani, Ravi Hiremagalore

PLoS One. 2023; 18(8): e0289558. Published online 2023 Aug 9. doi: 10.1371/journal.pone.0289558

PMCID:: PMC10411825

Abstract Article PDF–2.2M

Select item 103057715.

A Retrospective Study on the Clinical, Laboratory, and Nutritional Status of Pediatric Epidermolysis Bullosa in a Tertiary Referral Hospital in West Java, Indonesia

Laila Tsaqilah, Inne Arline Diana, Srie Prihianti Gondokaryono, Raden Mohamad Rendy Ariezal Effendi, Oki Suwarsa, Hendra Gunawan, Risa Milliawati Nurul Hidayah, Reiva Farah Dwiyana

Clin Cosmet Investig Dermatol. 2023; 16: 1615–1621. Published online 2023 Jun 24. doi: 10.2147/CCID.S413093

PMCID:: PMC10305771

Abstract Article PDF–420K

Select item 102770046.

Innovations in the Treatment of Dystrophic Epidermolysis Bullosa (DEB): Current Landscape and Prospects

Ping-Chen Hou, Nathalie del Agua, Su M Lwin, Chao-Kai Hsu, John A McGrath

Ther Clin Risk Manag. 2023; 19: 455–473. Published online 2023 Jun 14. doi: 10.2147/TCRM.S386923

PMCID:: PMC10277004

Abstract Article PDF–4.2M

Select item 100024917.

COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents

Bernadette Liemberger, Johannes Bischof, Michael Ablinger, Stefan Hainzl, Eva M. Murauer, Nina Lackner, Patricia Ebner, Thomas Kocher, Alexander Nyström, Verena Wally, Elisabeth Mayr, Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Johann W. Bauer, Ulrich Koller

Int J Mol Sci. 2023 Mar; 24(5): 4341. Published online 2023 Feb 22. doi: 10.3390/ijms24054341

PMCID:: PMC10002491

Abstract Article PDF–2.0M

Select item 97031958.

In Vivo Models for the Evaluation of Antisense Oligonucleotides in Skin.

Jeroen Bremer, Peter C van den Akker

Methods Mol Biol. 2022; 2434: 315–320. doi: 10.1007/978-1-0716-2010-6_21

PMCID:: PMC9703195

Abstract Article

Select item 96669969.

ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation

Adam Sheriff, Ina Guri, Paulina Zebrowska, Virginia Llopis-Hernandez, Imogen R. Brooks, Stavroula Tekkela, Kavita Subramaniam, Ruta Gebrezgabher, Gaetano Naso, Anastasia Petrova, Katarzyna Balon, Alexandros Onoufriadis, Dorota Kujawa, Martyna Kotulska, Gregory Newby, Łukasz Łaczmański, David R. Liu, John A. McGrath, Joanna Jacków

Sci Rep. 2022; 12: 19643. Published online 2022 Nov 16. doi: 10.1038/s41598-022-24184-8

PMCID:: PMC9666996

Abstract Article PDF–2.7M

Select item 952412010.

Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa

James A. Feinstein, Anna L. Bruckner, Benjamin Chastek, Amy Anderson, Juan Roman

Orphanet J Rare Dis. 2022; 17: 367. Published online 2022 Sep 29. doi: 10.1186/s13023-022-02509-0

PMCID:: PMC9524120

Abstract Article PDF–945K

Select item 950123011.

In Vivo Skin Regeneration and Wound Healing Using Cell Micro-Transplantation

Lucia Nanić, Andrea Cedilak, Nikolina Škrobot Vidaček, Florian Gruber, Miljenko Huzak, Michael Bader, Ivica Rubelj

Pharmaceutics. 2022 Sep; 14(9): 1955. Published online 2022 Sep 15. doi: 10.3390/pharmaceutics14091955

PMCID:: PMC9501230

Abstract Article PDF–3.0M

Select item 937417812.

Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening

Giovanni Di Zenzo, Giovanna Floriddia, Sabrina Rossi, Feliciana Mariotti, Alessia Primerano, Angelo Giuseppe Condorelli, Biagio Didona, Daniele Castiglia

Front Immunol. 2022; 13: 929286. Published online 2022 Jul 29. doi: 10.3389/fimmu.2022.929286

PMCID:: PMC9374178

Abstract Article PDF–2.3M

Select item 917389413.

Oral Alterations in Heritable Epidermolysis Bullosa: A Clinical Study and Literature Review

Alessandro Polizzi, Simona Santonocito, Romeo Patini, Vincenzo Quinzi, Stefano Mummolo, Rosalia Leonardi, Alberto Bianchi, Gaetano Isola

Biomed Res Int. 2022; 2022: 6493156. Published online 2022 May 31. doi: 10.1155/2022/6493156

PMCID:: PMC9173894

Abstract Article PDF–1.1M

Select item 902773014.

Squamous Cell Carcinoma in Patients with Inherited Epidermolysis Bullosa: Review of Current Literature

Domenico Bonamonte, Angela Filoni, Aurora De Marco, Lucia Lospalluti, Eleonora Nacchiero, Valentina Ronghi, Anna Colagrande, Giuseppe Giudice, Gerardo Cazzato

Cells. 2022 Apr; 11(8): 1365. Published online 2022 Apr 17. doi: 10.3390/cells11081365

PMCID:: PMC9027730

Abstract Article PDF–279K

Select item 901366515.

Non-viral delivery of CRISPR–Cas9 complexes for targeted gene editing via a polymer delivery system

Jonathan O’Keeffe Ahern, Irene Lara-Sáez, Dezhong Zhou, Rodolfo Murillas, Jose Bonafont, Ángeles Mencía, Marta García, Darío Manzanares, Jennifer Lynch, Ruth Foley, Qian Xu, A Sigen, Fernando Larcher, Wenxin Wang

Gene Ther. 2022; 29(3-4): 157–170. Published online 2021 Aug 6. doi: 10.1038/s41434-021-00282-6

PMCID:: PMC9013665

Abstract Article PDF–4.9M

Select item 865790816.

Development of Minicircle Vectors Encoding COL7A1 Gene with Human Promoters for Non-Viral Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa

Xianqing Wang, Fatma Alshehri, Darío Manzanares, Yinghao Li, Zhonglei He, Bei Qiu, Ming Zeng, Sigen A, Irene Lara-Sáez, Wenxin Wang

Int J Mol Sci. 2021 Dec; 22(23): 12774. Published online 2021 Nov 26. doi: 10.3390/ijms222312774

PMCID:: PMC8657908

Abstract Article PDF–2.5M

Select item 863978817.

Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa

David T. Woodley, Jon Cogan, Daniel Mosallaei, Kaitlyn Yim, Mei Chen

J Dermatol Sci. Author manuscript; available in PMC 2022 Nov 1.

Published in final edited form as: J Dermatol Sci. 2021 Nov; 104(2): 104–111. Published online 2021 Sep 23. doi: 10.1016/j.jdermsci.2021.09.006

PMCID:: PMC8639788

Abstract Article PDF–1.2M

Select item 840423018.

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 837714919.

The severity of malnutrition in children with epidermolysis bullosa correlates with disease severity

Seema Manjunath, Rahul Mahajan, Dipankar De, Sanjeev Handa, Savita Attri, Banchha Nidhi Behera, Sadhna Lal Bhasin, Rishi Bolia

Sci Rep. 2021; 11: 16827. Published online 2021 Aug 19. doi: 10.1038/s41598-021-96354-z

PMCID:: PMC8377149

Abstract Article PDF–1.4M

Select item 836222620.

A comparison study of outcome measures for epidermolysis bullosa: Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) and the Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa (iscorEB)

Clare L. Rogers, Matthew Gibson, Johannes S. Kern, Linda K. Martin, Susan J. Robertson, Benjamin S. Daniel, John C. Su, Oliver G.C. Murrell, Grant Feng, Dedee F. Murrell

JAAD Int. 2021 Mar; 2: 134–152. Published online 2021 Jan 21. doi: 10.1016/j.jdin.2020.12.007

PMCID:: PMC8362226

Abstract Article PDF–7.8M

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