Literature DB >> 26076072

A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa.

A Schwieger-Briel1, L Weibel2,3, N Chmel1, J Leppert1, K Kernland-Lang4, G Grüninger1, C Has1.   

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Year:  2015        PMID： 26076072     DOI： 10.1111/bjd.13945

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  11 in total

1.  Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.

Authors:  Olivier Bornert; Tobias Kühl; Jeroen Bremer; Peter C van den Akker; Anna Mg Pasmooij; Alexander Nyström
Journal:  Mol Ther       Date:  2016-05-09       Impact factor: 11.454

2.  A Gene Gun-mediated Nonviral RNA trans-splicing Strategy for Col7a1 Repair.

Authors:  Patricia Peking; Ulrich Koller; Stefan Hainzl; Sophie Kitzmueller; Thomas Kocher; Elisabeth Mayr; Alexander Nyström; Thomas Lener; Julia Reichelt; Johann W Bauer; Eva M Murauer
Journal:  Mol Ther Nucleic Acids       Date:  2016-03-01       Impact factor: 10.183

Review 3.  Current and Future Perspectives of Stem Cell Therapy in Dermatology.

Authors:  Christine M Prodinger; Julia Reichelt; Johann W Bauer; Martin Laimer
Journal:  Ann Dermatol       Date:  2017-10-30       Impact factor: 1.444

4.  COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa.

Authors:  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
Journal:  Mol Ther       Date:  2017-07-13       Impact factor: 11.454

Review 5.  Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.

Authors:  Cristina Has; Andrew South; Jouni Uitto
Journal:  Mol Diagn Ther       Date:  2020-06       Impact factor: 4.074

6.  Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

Authors:  C Has; L Liu; M C Bolling; A V Charlesworth; M El Hachem; M J Escámez; I Fuentes; S Büchel; R Hiremagalore; G Pohla-Gubo; P C van den Akker; K Wertheim-Tysarowska; G Zambruno
Journal:  Br J Dermatol       Date:  2019-08-09       Impact factor: 9.302

7.  Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach.

Authors:  Luiza Monteavaro Mariath; Ana Elisa Kiszewski; Jeanine Aparecida Frantz; Marina Siebert; Ursula Matte; Lavínia Schuler-Faccini
Journal:  An Bras Dermatol       Date:  2021-02-02       Impact factor: 1.896

Review 8.  RNA-based therapies for genodermatoses.

Authors:  Olivier Bornert; Patricia Peking; Jeroen Bremer; Ulrich Koller; Peter C van den Akker; Annemieke Aartsma-Rus; Anna M G Pasmooij; Eva M Murauer; Alexander Nyström
Journal:  Exp Dermatol       Date:  2017-01       Impact factor: 3.960

9.  Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1.

Authors:  Kristin A Ham; May Thandar Aung-Htut; Sue Fletcher; Steve D Wilton
Journal:  Int J Mol Sci       Date:  2020-10-18       Impact factor: 5.923

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

Authors:  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
Journal:  Int J Mol Sci       Date:  2021-03-24       Impact factor: 5.923
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