ACOL7A1variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa-Reference-Cited by-同舟云学术

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ACOL7A1variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa

Published:2015-08-26 Issue:5 Volume:173 Page:1308-1311
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Schwieger-Briel A.¹,Weibel L.²³,Chmel N.¹,Leppert J.¹,Kernland-Lang K.⁴,Grüninger G.¹,Has C.¹

Affiliation:

1. Department of Dermatology; Medical Center, University of Freiburg; Hauptstrasse 7 Freiburg 79104 Germany

2. Department of Paediatric Dermatology; University Children's Hospital Zurich; University Hospital Zurich; Zurich Switzerland

3. Department of Dermatology; University Children's Hospital Zurich; University Hospital Zurich; Zurich Switzerland

4. Department of Dermatology; University Hospital Bern; Bern Switzerland

Funder

Debra International

Fritz Thyssen Foundation

Else Kröner-Fresenius Foundation

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.13945/fullpdf

Reference11 articles.

1. Dystrophic epidermolysis bullosa: pathogenesis and clinical features;Bruckner-Tuderman;Dermatol Clin,2010

2. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014

3. The genetics of skin fragility;Has;Annu Rev Genomics Hum Genet,2014

4. A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa;Titeux;Hum Mutat,2008

5. Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity;Odorisio;Hum Mol Genet,2014

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1. Twin Prime Editing Mediated Exon Skipping/Reinsertion for Restored Collagen VII Expression in Recessive Dystrophic Epidermolysis Bullosa;Journal of Investigative Dermatology;2024-05

2. Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa;Journal of Applied Genetics;2024-03-09

3. Epidermal or Dermal Collagen VII Is Sufficient for Skin Integrity: Insights to Anchoring Fibril Homeostasis;Journal of Investigative Dermatology;2023-11

4. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16

5. Stairways to Advanced Therapies for Epidermolysis Bullosa;Cold Spring Harbor Perspectives in Biology;2022-09-27

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