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Select item 111068831.

Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases

Austin Hwang, Andie Kwon, Corinne H. Miller, Antonia Reimer-Taschenbrecker, Amy S. Paller

Orphanet J Rare Dis. 2024; 19: 206. Published online 2024 May 21. doi: 10.1186/s13023-024-03190-1

PMCID:: PMC11106883

Abstract Article PDF–1.1M

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 110186303.

Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa

Grace Tartaglia, Ignacia Fuentes, Neil Patel, Abigail Varughese, Lauren E Israel, Pyung Hun Park, Michael H Alexander, Shiv Poojan, Qingqing Cao, Brenda Solomon, Zachary M Padron, Jonathan A Dyer, Jemima E Mellerio, John A McGrath, Francis Palisson, Julio Salas-Alanis, Lin Han, Andrew P South

EMBO Mol Med. 2024 Apr; 16(4): 870–884. Published online 2024 Mar 10. doi: 10.1038/s44321-024-00048-8

PMCID:: PMC11018630

Abstract Article PDF–2.7M

Select item 108315504.

Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study

Eunice Jeffs, Elizabeth Pillay, Lesedi Ledwaba‐Chapman, Alessandra Bisquera, Susan Robertson, John McGrath, Yanzhong Wang, Anna Martinez, Anita Patel, Jemima Mellerio

Skin Health Dis. 2024 Feb; 4(1): e314. Published online 2024 Jan 10. doi: 10.1002/ski2.314

PMCID:: PMC10831550

Abstract Article PDF–486K

Select item 108153465.

Splicing Modulation via Antisense Oligonucleotides in Recessive Dystrophic Epidermolysis Bullosa

Stefan Hainzl, Lisa Trattner, Bernadette Liemberger, Johannes Bischof, Thomas Kocher, Michael Ablinger, Alexander Nyström, Astrid Obermayer, Alfred Klausegger, Christina Guttmann-Gruber, Verena Wally, Johann W. Bauer, Josefina Piñón Hofbauer, Ulrich Koller

Int J Mol Sci. 2024 Jan; 25(2): 761. Published online 2024 Jan 7. doi: 10.3390/ijms25020761

PMCID:: PMC10815346

Abstract Article PDF–3.6M

Select item 107278616.

Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants

Hyeok-Jin Kwon, Dong-Wha Yoo, Jung-Ho Yoon, Namhee Kim, Ki-Ho Kim

Ann Dermatol. 2023 Nov; 35(Suppl 2): S195–S200. Published online 2023 Oct 27. doi: 10.5021/ad.21.176

PMCID:: PMC10727861

Abstract Article PDF–383K

Select item 106619917.

Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

Yo Niida, Azusa Kobayashi, Sumihito Togi, Hiroki Ura

Hum Genome Var. 2023; 10: 29. Published online 2023 Nov 20. doi: 10.1038/s41439-023-00257-6

PMCID:: PMC10661991

Abstract Article PDF–1.2M

Select item 106356168.

Skin Allograft after Bone Marrow Transplantation of Patient with Recessive Dystrophic Epidermolysis Bullosa

Felwa A. AlMarshad, Abdullah M. AlZahrani, Nehal A. Mahabbat, Eman M. AlShammari, Saud A. AlObaida, Ali A. AlMalaq

Plast Reconstr Surg Glob Open. 2023 Nov; 11(11): e5389. Published online 2023 Nov 9. doi: 10.1097/GOX.0000000000005389

PMCID:: PMC10635616

Abstract Article PDF–947K

Select item 106307799.

CRISPR-Cas9-based non-viral gene editing therapy for topical treatment of recessive dystrophic epidermolysis bullosa

Xianqing Wang, Xi Wang, Yinghao Li, Sigen A, Bei Qiu, Albina Bushmalyova, Zhonglei He, Wenxin Wang, Irene Lara-Sáez

Mol Ther Methods Clin Dev. 2023 Dec 14; 31: 101134. Published online 2023 Oct 13. doi: 10.1016/j.omtm.2023.101134

PMCID:: PMC10630779

Abstract Article PDF–3.1M

Select item 1059126310.

CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa

Farzad Alipour, Mana Ahmadraji, Elham Yektadoust, Parvaneh Mohammadi, Hossein Baharvand, Mohsen Basiri

Cell J. 2023 Oct; 25(10): 665–667. Published online 2023 Oct 9. doi: 10.22074/CELLJ.2023.1989321.1225

PMCID:: PMC10591263

Abstract Article PDF–1.8M

Select item 1041092811.

Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study

Jemima E. Mellerio, Elizabeth I. Pillay, Lesedi Ledwaba-Chapman, Alessandra Bisquera, Susan J. Robertson, Marieta Papanikolaou, John A. McGrath, Yanzhong Wang, Anna E. Martinez, Eunice Jeffs

Orphanet J Rare Dis. 2023; 18: 235. Published online 2023 Aug 9. doi: 10.1186/s13023-023-02817-z

PMCID:: PMC10410928

Abstract Article PDF–1.5M

Select item 1035970712.

Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report

Cahyani Gita Ambarsari, Retno Palupi-Baroto, Fira Alyssa Gabriella Sinuraya, Elvi Suryati, Etty Widyastuti, Suci Widhiati

Case Rep Nephrol Dial. 2023 Jan-Dec; 13(1): 75–83. Published online 2023 Jul 14. doi: 10.1159/000530875

PMCID:: PMC10359707

Abstract Article PDF–685K

Select item 1034038713.

Biomarker Discovery in Rare Malignancies: Development of a miRNA Signature for RDEB-cSCC

Roland Zauner, Monika Wimmer, Sabine Atzmueller, Johannes Proell, Norbert Niklas, Michael Ablinger, Manuela Reisenberger, Thomas Lettner, Julia Illmer, Sonja Dorfer, Ulrich Koller, Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Johann W. Bauer, Verena Wally

Cancers (Basel) 2023 Jul; 15(13): 3286. Published online 2023 Jun 22. doi: 10.3390/cancers15133286

PMCID:: PMC10340387

Abstract Article PDF–5.5M

Select item 1029204614.

Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa

Laura TREFZER, Maria E. HESS, Lena SCHOLTEN, Kristin TECHNAU-HAFSI, Frank MEISS, Melanie BOERRIES, Cristina HAS, David RAFEI-SHAMSABADI

Acta Derm Venereol. 2023; 103: 4870. Published online 2023 Jun 20. doi: 10.2340/actadv.v103.4870

PMCID:: PMC10292046

Abstract Article PDF–2.1M

Select item 1025283015.

Kinetics of Wound Development and Healing Suggests a Skin-Stabilizing Effect of Allogeneic ABCB5⁺ Mesenchymal Stromal Cell Treatment in Recessive Dystrophic Epidermolysis Bullosa

Elke Niebergall-Roth, Kathrin Dieter, Cristina Daniele, Silvia Fluhr, Maria Khokhrina, Ines Silva, Christoph Ganss, Markus H. Frank, Mark A. Kluth

Cells. 2023 Jun; 12(11): 1468. Published online 2023 May 24. doi: 10.3390/cells12111468

PMCID:: PMC10252830

Abstract Article PDF–1.3M

Select item 1018786016.

A Case of Recessive Dystrophic Epidermolysis Bullosa Associated Colitis

Katelyn McCann, Karen Wiss, Jeffrey Covington, Vanessa Laffert, Kerri B. Gosselin

JPGN Rep. 2023 May; 4(2): e313. Published online 2023 Apr 26. doi: 10.1097/PG9.0000000000000313

PMCID:: PMC10187860

Abstract Article PDF–1.3M

Select item 1017071017.

Maintenance of chronicity signatures in fibroblasts isolated from recessive dystrophic epidermolysis bullosa chronic wound dressings under culture conditions

Cristian De Gregorio, Evelyng Catalán, Gabriel Garrido, Pilar Morandé, Jimena Castillo Bennett, Catalina Muñoz, Glenda Cofré, Ya-Lin Huang, Bárbara Cuadra, Paola Murgas, Margarita Calvo, Fernando Altermatt, María Joao Yubero, Francis Palisson, Andrew P. South, Marcelo Ezquer, Ignacia Fuentes

Biol Res. 2023; 56: 23. Published online 2023 May 10. doi: 10.1186/s40659-023-00437-2

PMCID:: PMC10170710

Abstract Article PDF–3.8M

Select item 1011867918.

Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review

Brenda Lamônica Rodrigues de Azevedo, Gabriel Marim Roni, Rosalie Matuk Fuentes Torrelio, Letícia Nogueira da Gama-de-Souza

J Pediatr Genet. 2023 Jun; 12(2): 97–104. Published online 2023 Feb 24. doi: 10.1055/s-0043-1763257

PMCID:: PMC10118679

Abstract Article PDF–1.0M

Select item 1000249119.

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