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Select item 30877211.

A Frameshift Mutation within LAMC2 Is Responsible for Herlitz Type Junctional Epidermolysis Bullosa (HJEB) in Black Headed Mutton Sheep

Stefanie Mömke, Andrea Kerkmann, Anne Wöhlke, Miriam Ostmeier, Marion Hewicker-Trautwein, Martin Ganter, James Kijas, for the International Sheep Consortium, Ottmar Distl

PLoS One. 2011; 6(5): e18943. Published online 2011 May 4. doi: 10.1371/journal.pone.0018943

PMCID:: PMC3087721

Abstract Article PDF–1.9M

Select item 17159672.

Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.

L Pulkkinen, F Bullrich, P Czarnecki, L Weiss, J Uitto

Am J Hum Genet. 1997 Sep; 61(3): 611–619. doi: 10.1086/515524

PMCID:: PMC1715967

Summary Page Browse PDF–1.7M

Select item 106065333.

Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa

Sarah Kiener, Heather Troyer, Daniel Ruvolo, Paula Grest, Sara Soto, Anna Letko, Vidhya Jagannathan, Tosso Leeb, Elizabeth A. Mauldin, Ching Yang, Ana Rostaher

Genes (Basel) 2023 Oct; 14(10): 1835. Published online 2023 Sep 22. doi: 10.3390/genes14101835

PMCID:: PMC10606533

Abstract Article PDF–4.9M

Select item 106022944.

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

Thomas J. Sproule, Robert Y. Wilpan, John J. Wilson, Benjamin E. Low, Yudai Kabata, Tatsuo Ushiki, Riichiro Abe, Michael V. Wiles, Derry C. Roopenian, John P. Sundberg

PLoS One. 2023; 18(10): e0293218. Published online 2023 Oct 26. doi: 10.1371/journal.pone.0293218

PMCID:: PMC10602294

Abstract Article PDF–9.0M

Select item 105532175.

Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice

Thomas J. Sproule, Robert Y. Wilpan, Benjamin E. Low, Kathleen A. Silva, Deepak Reyon, J. Keith Joung, Michael V. Wiles, Derry C. Roopenian, John P. Sundberg

PLoS One. 2023; 18(10): e0292456. Published online 2023 Oct 5. doi: 10.1371/journal.pone.0292456

PMCID:: PMC10553217

Abstract Article PDF–5.8M

Select item 103379716.

Seven naturally variant loci serve as genetic modifiers of Lamc2^jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice

Thomas J. Sproule, Vivek M. Philip, Nabig A. Chaudhry, Derry C. Roopenian, John P. Sundberg

PLoS One. 2023; 18(7): e0288263. Published online 2023 Jul 12. doi: 10.1371/journal.pone.0288263

PMCID:: PMC10337971

Abstract Article PDF–3.7M

Select item 102168407.

Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa

Grace Tartaglia, Pyung Hun Park, Michael H. Alexander, Alexander Nyström, Joel Rosenbloom, Andrew P. South

Biomolecules. 2023 May; 13(5): 740. Published online 2023 Apr 25. doi: 10.3390/biom13050740

PMCID:: PMC10216840

Abstract Article PDF–5.9M

Select item 100490618.

A Novel Fluorescence-Based Screen of Gene Editing Molecules for Junctional Epidermolysis Bullosa

Janine Zwicklhuber, Thomas Kocher, Bernadette Liemberger, Stefan Hainzl, Johannes Bischof, Dirk Strunk, Anna M. Raninger, Iris Gratz, Verena Wally, Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Johann W. Bauer, Ulrich Koller

Int J Mol Sci. 2023 Mar; 24(6): 5197. Published online 2023 Mar 8. doi: 10.3390/ijms24065197

PMCID:: PMC10049061

Abstract Article PDF–3.8M

Select item 93723119.

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa

Johannes Bischof, Oliver Patrick March, Bernadette Liemberger, Simone Alexandra Haas, Stefan Hainzl, Igor Petković, Victoria Leb-Reichl, Julia Illmer, Evgeniia Korotchenko, Alfred Klausegger, Anna Hoog, Heide-Marie Binder, Marta Garcia, Blanca Duarte, Dirk Strunk, Fernando Larcher, Julia Reichelt, Christina Guttmann-Gruber, Verena Wally, Josefina Piñón Hofbauer, Johann Wolfgang Bauer, Toni Cathomen, Thomas Kocher, Ulrich Koller

Mol Ther. 2022 Aug 3; 30(8): 2680–2692. Published online 2022 Apr 30. doi: 10.1016/j.ymthe.2022.04.020

PMCID:: PMC9372311

Abstract Article PDF–3.3M

Select item 935084410.

Kidney–Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa

Laura Trefzer, Agnes Schwieger-Briel, Alexander Nyström, Gregor Conradt, Martin Pohl, Arkadiusz Miernik, Cristina Has

JAMA Dermatol. 2022 Sep; 158(9): 1057–1062. Published online 2022 Aug 3. doi: 10.1001/jamadermatol.2022.2885

PMCID:: PMC9350844

Abstract Article

Select item 932496911.

The importance of accurate epidemiological data of epidermolysis bullosa

Rosalie Baardman, Maria C. Bolling

Br J Dermatol. 2022 May; 186(5): 765–766. Published online 2022 May 2. doi: 10.1111/bjd.21295

PMCID:: PMC9324969

Abstract Article PDF–141K

Select item 920629512.

First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate

Yao Wang, Dong Yu, Wei Wei, Hao Zheng, Ming-Hua Liu, Long Ma, Li-Na Qin, Neng-Zhuang Wang, Jia-Xi Li, Jin-Jiang Wang, Xin-Ling Bi, Hong-Li Yan

BMC Med Genomics. 2022; 15: 136. Published online 2022 Jun 18. doi: 10.1186/s12920-022-01285-x

PMCID:: PMC9206295

Abstract Article PDF–1.4M

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 912899714.

Collagen XVII Processing and Blistering Skin Diseases

Wataru NISHIE

Acta Derm Venereol. 2020; 100(5): 5662. Published online 2020 Feb 12. doi: 10.2340/00015555-3399

PMCID:: PMC9128997

Abstract Article PDF–1.3M

Select item 901849015.

Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 Mutation

Fahad Ahmed, Lisa R. Young, Marissa J. Perman

Pediatr Dermatol. Author manuscript; available in PMC 2023 Mar 1.

Published in final edited form as: Pediatr Dermatol. 2022 Mar; 39(2): 264–267. Published online 2022 Feb 17. doi: 10.1111/pde.14942

PMCID:: PMC9018490

Abstract Article PDF–647K

Select item 889236316.

Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants

Daniel Mosallaei, Michelle Hao, Richard J. Antaya, Brandon Levian, Andrew Kwong, Jon Cogan, Claire Hamilton, Agnes Schwieger-Briel, Calvin Tan, Xin Tang, David T. Woodley, Mei Chen

JAMA Dermatol. 2022 Apr; 158(4): 366–374. Published online 2022 Mar 2. doi: 10.1001/jamadermatol.2021.5992

PMCID:: PMC8892363

Abstract Article

Select item 827922617.

Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement

Ina Herrmann, Keith E. Linder, Kathryn M. Meurs, Steven G. Friedenberg, Jonah Cullen, Natasha Olby, Petra Bizikova

Vet Dermatol. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: Vet Dermatol. 2021 Aug; 32(4): 379–e108. doi: 10.1111/vde.12972

PMCID:: PMC8279226

Abstract Article PDF–2.1M

Select item 815185718.

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

PMCID:: PMC8151857

Abstract Article PDF–2.8M

Select item 809707519.

Single-keratinocyte transcriptomic analyses identify different clonal types and proliferative potential mediated by FOXM1 in human epidermal stem cells

Elena Enzo, Alessia Secone Seconetti, Mattia Forcato, Elena Tenedini, Maria Pia Polito, Irene Sala, Sonia Carulli, Roberta Contin, Clelia Peano, Enrico Tagliafico, Silvio Bicciato, Sergio Bondanza, Michele De Luca

Nat Commun. 2021; 12: 2505. Published online 2021 May 4. doi: 10.1038/s41467-021-22779-9

PMCID:: PMC8097075

Abstract Article PDF–3.0M

Select item 803662620.

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

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