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Select item 114444571.

Extensive Extragenital Lichen Sclerosus-Like Lesions in a Patient with Junctional Epidermolysis Bullosa

Smriti Gupta, Sanjeev Handa, Debajyoti Chatterjee, Dipankar De, Rahul Mahajan

Indian Dermatol Online J. 2024 Sep-Oct; 15(5): 834–836. Published online 2024 Jul 15. doi: 10.4103/idoj.idoj_503_23

PMCID:: PMC11444457

Abstract Article PDF–1.9M

Select item 39824862.

Somatic Correction of Junctional Epidermolysis Bullosa by a Highly Recombinogenic AAV Variant

Sandra P Melo, Leszek Lisowski, Elizaveta Bashkirova, Hanson H Zhen, Kirk Chu, Douglas R Keene, M Peter Marinkovich, Mark A Kay, Anthony E Oro

Mol Ther. 2014 Apr; 22(4): 725–733. Prepublished online 2014 Jan 6. Published online 2014 Jan 28. doi: 10.1038/mt.2013.290

PMCID:: PMC3982486

Abstract Article PDF–1.2M

Select item 43722323.

First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse

Katia Cappelli, Chiara Brachelente, Fabrizio Passamonti, Alessandro Flati, Maurizio Silvestrelli, Stefano Capomaccio

BMC Vet Res. 2015; 11: 55. Published online 2015 Mar 10. doi: 10.1186/s12917-015-0374-0

PMCID:: PMC4372232

Abstract Article PDF–1.4M

Select item 44172764.

Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa

Pauline Michot, Oscar Fantini, Régis Braque, Aurélie Allais-Bonnet, Romain Saintilan, Cécile Grohs, Johanna Barbieri, Lucie Genestout, Coralie Danchin-Burge, Jean-Marie Gourreau, Didier Boichard, Didier Pin, Aurélien Capitan

Genet Sel Evol. 2015; 47(1): 37. Published online 2015 May 3. doi: 10.1186/s12711-015-0110-z

PMCID:: PMC4417276

Abstract Article PDF–1.8M

Select item 44254085.

Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep

Aroa Suárez-Vega, Beatriz Gutiérrez-Gil, Julio Benavides, Valentín Perez, Gwenola Tosser-Klopp, Christophe Klopp, Stephen J. Keennel, Juan José Arranz

PLoS One. 2015; 10(5): e0126416. Published online 2015 May 8. doi: 10.1371/journal.pone.0126416

PMCID:: PMC4425408

Abstract Article PDF–11M

Select item 54121416.

Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa

Minhee Kim, Swaranjali Jain, Adam G. Harris, Dedee F. Murrell

Int J Womens Dermatol. 2016 Jun; 2(2): 56–59. Published online 2016 May 19. doi: 10.1016/j.ijwd.2016.04.001

PMCID:: PMC5412141

Abstract Article PDF–530K

Select item 60484977.

Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa

Vadim Lincoln, Jon Cogan, Yingping Hou, Michaela Hirsch, Michelle Hao, Vitali Alexeev, Michele De Luca, Laura De Rosa, Johann W. Bauer, David T. Woodley, Mei Chen

Proc Natl Acad Sci U S A. 2018 Jul 10; 115(28): E6536–E6545. Published online 2018 Jun 26. doi: 10.1073/pnas.1803154115

PMCID:: PMC6048497

Abstract Article PDF–1.4M

Select item 62247838.

CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient

Daniela Benati, Francesca Miselli, Fabienne Cocchiarella, Clarissa Patrizi, Marta Carretero, Samantha Baldassarri, Virginia Ammendola, Cristina Has, Stefano Colloca, Marcela Del Rio, Fernando Larcher, Alessandra Recchia

Mol Ther. 2018 Nov 7; 26(11): 2592–2603. Published online 2018 Aug 4. doi: 10.1016/j.ymthe.2018.07.024

PMCID:: PMC6224783

Abstract Article PDF–1.5M

Select item 63105859.

Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa

Hairong Wang, Yun Yang, Jieqiong Zhou, Jiangxia Cao, Xuelian He, Long Li, Shuyang Gao, Bing Mao, Ping Tian, Aifen Zhou

Medicine (Baltimore) 2018 Dec; 97(49): e13225. Published online 2018 Dec 10. doi: 10.1097/MD.0000000000013225

PMCID:: PMC6310585

Abstract Article PDF–592K

Select item 391675710.

Long-Term Stability and Safety of Transgenic Cultured Epidermal Stem Cells in Gene Therapy of Junctional Epidermolysis Bullosa

Laura De Rosa, Sonia Carulli, Fabienne Cocchiarella, Daniela Quaglino, Elena Enzo, Eleonora Franchini, Alberto Giannetti, Giorgio De Santis, Alessandra Recchia, Graziella Pellegrini, Michele De Luca

Stem Cell Reports. 2014 Jan 14; 2(1): 1–8. Published online 2013 Dec 26. doi: 10.1016/j.stemcr.2013.11.001

PMCID:: PMC3916757

Abstract Article PDF–2.2M

Select item 707306811.

Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function

Paola Fortugno, Angelo Giuseppe Condorelli, Elena Dellambra, Liliana Guerra, Francesca Cianfarani, Lavinia Tinaburri, Vittoria Proto, Naomi De Luca, Francesca Passarelli, Francesca Ricci, Giovanna Zambruno, Daniele Castiglia

Int J Mol Sci. 2020 Feb; 21(4): 1426. Published online 2020 Feb 20. doi: 10.3390/ijms21041426

PMCID:: PMC7073068

Abstract Article PDF–4.3M

Select item 721071912.

Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations

Andrew Kwong, Jon Cogan, Yingping Hou, Richard Antaya, Michelle Hao, Gene Kim, Vadim Lincoln, Qiuyang Chen, David T. Woodley, Mei Chen

Mol Ther. 2020 May 6; 28(5): 1327–1338. Published online 2020 Mar 17. doi: 10.1016/j.ymthe.2020.03.006

PMCID:: PMC7210719

Abstract Article PDF–1.9M

Select item 739281613.

Leading Edge: Emerging Drug, Cell, and Gene Therapies for Junctional Epidermolysis Bullosa

Allison R. Keith, Kirk Twaroski, Christen L. Ebens, Jakub Tolar

Expert Opin Biol Ther. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Expert Opin Biol Ther. 2020 Aug; 20(8): 911–923. Published online 2020 Mar 20. doi: 10.1080/14712598.2020.1740678

PMCID:: PMC7392816

Abstract Article PDF–1.0M

Select item 756516414.

LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa

Sarah Kiener, Aurore Laprais, Elizabeth A. Mauldin, Vidhya Jagannathan, Thierry Olivry, Tosso Leeb

Genes (Basel) 2020 Sep; 11(9): 1055. Published online 2020 Sep 7. doi: 10.3390/genes11091055

PMCID:: PMC7565164

Abstract Article PDF–1.2M

Select item 803662615.

Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa

Michael Ablinger, Thomas Lettner, Nicole Friedl, Hannah Potocki, Theresa Palmetzhofer, Ulrich Koller, Julia Illmer, Bernadette Liemberger, Stefan Hainzl, Alfred Klausegger, Manuela Reisenberger, Jo Lambert, Mireille Van Gele, Eline Desmet, Els Van Maelsaeke, Monika Wimmer, Roland Zauner, Johann W. Bauer, Verena Wally

Int J Mol Sci. 2021 Apr; 22(7): 3326. Published online 2021 Mar 24. doi: 10.3390/ijms22073326

PMCID:: PMC8036626

Abstract Article PDF–1.9M

Select item 815185716.

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

Daniele Castiglia, Paola Fortugno, Angelo Giuseppe Condorelli, Sabina Barresi, Naomi De Luca, Simone Pizzi, Iria Neri, Claudio Graziano, Diletta Trojan, Diego Ponzin, Sabrina Rossi, Giovanna Zambruno, Marco Tartaglia

Genes (Basel) 2021 May; 12(5): 716. Published online 2021 May 11. doi: 10.3390/genes12050716